Variant report

Variant	esv3438948
Chromosome Location	chr1:94311389-94313937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1218)
CpG islands
(count:1038)
Chromatin interactive
region (count:38)
LncRNA
region (count:5)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1218 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:94313012-94313385	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:94313654-94313908	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:94311879-94312210	K562	blood:	n/a	n/a
4	ARID3A	chr1:94311153-94311976	HepG2	liver:	n/a	n/a
5	ATF2	chr1:94313457-94313985	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr1:94312744-94313440	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:94312670-94313408	GM12878	blood:	n/a	n/a
8	ATF2	chr1:94312732-94313398	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr1:94311057-94311531	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr1:94313432-94313983	GM12878	blood:	n/a	n/a
11	ATF2	chr1:94312616-94313424	GM12878	blood:	n/a	n/a
12	ATF2	chr1:94313518-94313877	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr1:94311827-94312451	GM12878	blood:	n/a	n/a
14	ATF2	chr1:94311062-94311516	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr1:94313430-94313897	K562	blood:	n/a	n/a
16	ATF3	chr1:94312799-94313495	A549	lung:	n/a	n/a
17	ATF3	chr1:94312555-94313819	A549	lung:	n/a	n/a
18	ATF3	chr1:94312594-94313900	HCT-116	colon:	n/a	n/a
19	ATF3	chr1:94312858-94313422	K562	blood:	n/a	n/a
20	BACH1	chr1:94312802-94313321	K562	blood:	n/a	n/a
21	BACH1	chr1:94312169-94312444	K562	blood:	n/a	n/a
22	BACH1	chr1:94311721-94312586	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr1:94313024-94313278	GM12878	blood:	n/a	n/a
24	BCL3	chr1:94311520-94312002	A549	lung:	n/a	chr1:94311806-94311819 chr1:94311842-94311855
25	BCL3	chr1:94311114-94311405	GM12878	blood:	n/a	n/a
26	BCL3	chr1:94312943-94313348	A549	lung:	n/a	chr1:94312982-94312995
27	BCL3	chr1:94312837-94313399	A549	lung:	n/a	chr1:94312982-94312995
28	BCLAF1	chr1:94311735-94312388	K562	blood:	n/a	chr1:94311806-94311819 chr1:94312183-94312196 chr1:94311842-94311855 chr1:94312145-94312158 chr1:94312131-94312144 chr1:94312316-94312329
29	BCLAF1	chr1:94312704-94313393	GM12878	blood:	n/a	chr1:94312756-94312769 chr1:94312982-94312995
30	BCLAF1	chr1:94312764-94313906	GM12878	blood:	n/a	chr1:94312982-94312995
31	BCLAF1	chr1:94311804-94312487	GM12878	blood:	n/a	chr1:94311806-94311819 chr1:94312183-94312196 chr1:94311842-94311855 chr1:94312145-94312158 chr1:94312131-94312144 chr1:94312316-94312329
32	BDP1	chr1:94312866-94313323	K562	blood:	n/a	n/a
33	BDP1	chr1:94312900-94313384	Hela-S3	cervix:	n/a	n/a
34	BHLHE40	chr1:94311236-94312481	K562	blood:	n/a	chr1:94311976-94311992
35	BHLHE40	chr1:94311048-94311612	A549	lung:	n/a	n/a
36	BHLHE40	chr1:94312650-94313816	GM12878	blood:	n/a	chr1:94312748-94312764
37	BHLHE40	chr1:94311471-94312445	GM12878	blood:	n/a	chr1:94311976-94311992
38	BHLHE40	chr1:94312731-94313294	HepG2	liver:	n/a	chr1:94312748-94312764
39	BHLHE40	chr1:94312790-94313857	K562	blood:	n/a	n/a
40	BHLHE40	chr1:94311132-94312396	HepG2	liver:	n/a	chr1:94311976-94311992
41	BRCA1	chr1:94311855-94311957	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr1:94312002-94312014	HepG2	liver:	n/a	n/a
43	BRCA1	chr1:94312868-94313983	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr1:94312957-94313242	HepG2	liver:	n/a	n/a
45	BRCA1	chr1:94311489-94312178	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr1:94312101-94312272	GM12878	blood:	n/a	n/a
47	BRCA1	chr1:94312819-94313280	GM12878	blood:	n/a	n/a
48	BRCA1	chr1:94311565-94311717	GM12878	blood:	n/a	n/a
49	BRF1	chr1:94312942-94313289	Hela-S3	cervix:	n/a	n/a
50	BRF1	chr1:94312918-94313302	K562	blood:	n/a	n/a

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:94312390-94312440	HCM	heart:	n/a
2	chr1:94312390-94312440	HCM	heart:	n/a
3	chr1:94313627-94313677	HAEpiC	amniotic membrane:	n/a
4	chr1:94312380-94312430	IMR90	lung:	fetal
5	chr1:94312390-94312440	SK-N-SH_RA	brain:	n/a
6	chr1:94313454-94313504	K562	blood:	n/a
7	chr1:94312038-94312088	HAEpiC	amniotic membrane:	n/a
8	chr1:94312360-94312410	HRE	kidney:	n/a
9	chr1:94313460-94313510	HMEC	breast:	n/a
10	chr1:94312038-94312088	HCF	heart:	n/a
11	chr1:94311802-94311852	Jurkat	blood:	n/a
12	chr1:94313460-94313510	HRPEpiC	eye:	n/a
13	chr1:94312038-94312088	NH-A	brain:	n/a
14	chr1:94312206-94312256	LNCaP	prostate:	n/a
15	chr1:94311818-94311868	LNCaP	prostate:	n/a
16	chr1:94312870-94312920	GM12878	blood:	n/a
17	chr1:94312380-94312430	ovcar-3	ovarian:	n/a
18	chr1:94313460-94313510	K562	blood:	n/a
19	chr1:94312870-94312920	PrEC	prostate:	n/a
20	chr1:94311818-94311868	PANC-1	pancreas:	n/a
21	chr1:94313454-94313504	Caco-2	colon:	n/a
22	chr1:94312390-94312440	AoSMC	blood vessel:	n/a
23	chr1:94312038-94312088	PFSK-1	brain:	n/a
24	chr1:94313460-94313510	SK-N-SH	brain:	n/a
25	chr1:94312038-94312088	SAEC	small airway:	n/a
26	chr1:94312390-94312440	PFSK-1	brain:	n/a
27	chr1:94313600-94313650	AG04450	lung:	fetal
28	chr1:94313627-94313677	HEEpiC	esophagus:	n/a
29	chr1:94312360-94312410	BJ	skin:	n/a
30	chr1:94312368-94312418	LNCaP	prostate:	n/a
31	chr1:94312233-94312283	SK-N-SH_RA	brain:	n/a
32	chr1:94311961-94312011	CMK	blood:	n/a
33	chr1:94311802-94311852	NHBE	bronchial:	n/a
34	chr1:94313600-94313650	HRCEpiC	kidney:	n/a
35	chr1:94311818-94311868	AG04449	skin:	fetal
36	chr1:94313454-94313504	LNCaP	prostate:	n/a
37	chr1:94311961-94312011	AG10803	skin:	n/a
38	chr1:94312368-94312418	HIPEpiC	eye:	n/a
39	chr1:94312368-94312418	SK-N-MC	brain:	n/a
40	chr1:94312206-94312256	SK-N-SH_RA	brain:	n/a
41	chr1:94313627-94313677	AG04449	skin:	fetal
42	chr1:94313460-94313510	GM19239	blood:	n/a
43	chr1:94312038-94312088	SKMC	muscle:	n/a
44	chr1:94312390-94312440	AG04450	lung:	fetal
45	chr1:94313454-94313504	NB4	blood:	n/a
46	chr1:94312206-94312256	Jurkat	blood:	n/a
47	chr1:94311802-94311852	PrEC	prostate:	n/a
48	chr1:94313600-94313650	HCT-116	colon:	n/a
49	chr1:94313627-94313677	AG09309	skin:	n/a
50	chr1:94312390-94312440	ECC-1	luminal epithelium:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94311698..94312428-chr12:62653393..62653903,2	Hela-S3	cervix:
2	chr1:94310035..94314107-chr1:94336308..94338315,4	K562	blood:
3	chr1:94224636..94227402-chr1:94312918..94314465,2	K562	blood:
4	chr1:94311158..94313376-chr1:94883814..94886511,2	K562	blood:
5	chr1:94313358..94316025-chr1:94316812..94319394,2	MCF-7	breast:
6	chr1:94312714..94313428-chr16:2301058..2301846,2	Hela-S3	cervix:
7	chr1:93912251..93917174-chr1:94311554..94314483,6	MCF-7	breast:
8	chr1:94312026..94313686-chr1:94337188..94339061,2	MCF-7	breast:
9	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
10	chr1:94145898..94148493-chr1:94311257..94313086,3	MCF-7	breast:
11	chr1:94312180..94314378-chr1:94343204..94344804,3	K562	blood:
12	chr1:94312783..94313640-chr15:35280176..35280971,2	Hela-S3	cervix:
13	chr1:93808883..93811348-chr1:94310727..94314254,3	K562	blood:
14	chr1:94312118..94313117-chr12:53773612..53774367,2	Hela-S3	cervix:
15	chr1:94311883..94312816-chr6:41068705..41069705,3	Hela-S3	cervix:
16	chr1:94031565..94034150-chr1:94311941..94313768,2	MCF-7	breast:
17	chr1:94311521..94312144-chr7:39988387..39989256,2	HCT-116	colon:
18	chr1:94311309..94313221-chr1:94336029..94338174,3	K562	blood:
19	chr1:94313007..94313936-chr6:26157347..26158507,3	Hela-S3	cervix:
20	chr1:93643769..93645748-chr1:94311324..94312884,2	K562	blood:
21	chr1:94312303..94314752-chr1:94373572..94376301,2	MCF-7	breast:
22	chr1:45196360..45196880-chr1:94311880..94312608,2	Hela-S3	cervix:
23	chr1:94312249..94313217-chr1:155197097..155198051,2	Hela-S3	cervix:
24	chr1:94312529..94314745-chr1:94335727..94337365,2	MCF-7	breast:
25	chr1:94311992..94315197-chr1:94341852..94346150,3	MCF-7	breast:
26	chr1:93643262..93645748-chr1:94311384..94313517,2	K562	blood:
27	chr1:94144888..94147261-chr1:94311172..94313468,2	K562	blood:
28	chr1:94311345..94312464-chr5:43483381..43484059,3	Hela-S3	cervix:
29	chr1:94032781..94034755-chr1:94312060..94314320,2	K562	blood:
30	chr1:94146501..94148043-chr1:94311466..94313377,2	MCF-7	breast:
31	chr1:94311932..94312926-chr1:173793602..173794332,2	Hela-S3	cervix:
32	chr1:94313241..94313938-chr16:31580386..31581386,2	HCT-116	colon:
33	chr1:94311636..94312585-chr10:112678360..112678969,2	Hela-S3	cervix:
34	chr1:94311791..94312311-chr18:2655228..2655886,2	Hela-S3	cervix:
35	chr1:94312789..94313294-chr18:32621178..32621938,2	Hela-S3	cervix:
36	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:
37	chr1:93544000..93546020-chr1:94311349..94313397,2	MCF-7	breast:
38	chr1:94310847..94313357-chr1:94374431..94376609,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FNBP1L-2	chr1:94312730-94314495	ENSG00000260464.1
2	lnc-FNBP1L-2	chr1:94312598-94312780	NONHSAT004549
3	lnc-DNTTIP2-1	chr1:94311123-94311461	NONHSAT004544
4	lnc-FNBP1L-2	chr1:94313323-94314010	NONHSAT004549
5	lnc-FNBP1L-2	chr1:94312708-94317158	NONHSAT004550

miRNA name	Chromosome Location	mirBase accession
hsa-miR-760	chr1:94312436-94312455	MIMAT0004957

No data

Variant related genes	Relation type
BCAR3	TF binding region
MIR760	TF binding region
ENSG00000260464	TF binding region
BCAR3	CpG island
MIR760	CpG island
ENSG00000260464	CpG island
ENSG00000161912	chromatin interactions
ENSG00000198146	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000266405	chromatin interactions
ENSG00000101596	chromatin interactions
ENSG00000067334	chromatin interactions
ENSG00000198673	chromatin interactions
ENSG00000122483	chromatin interactions
ENSG00000120334	chromatin interactions
ENSG00000143033	chromatin interactions
ENSG00000214413	chromatin interactions
ENSG00000117528	chromatin interactions
ENSG00000223745	chromatin interactions
ENSG00000185591	chromatin interactions
ENSG00000261614	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000023909	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000167969	chromatin interactions
ENSG00000137936	chromatin interactions
ENSG00000117593	chromatin interactions
ENSG00000137942	chromatin interactions
ENSG00000166974	chromatin interactions
PBX2	Mature miRNA region
PPIA	Mature miRNA region
SON	Mature miRNA region
PSMD3	Mature miRNA region
ZNF618	Mature miRNA region
RHOT2	Mature miRNA region
ACBD4	Mature miRNA region
DNTTIP1	Mature miRNA region
ATXN2L	Mature miRNA region
FDFT1	Mature miRNA region
HIPK2	Mature miRNA region
LAMB1	Mature miRNA region
PEF1	Mature miRNA region
PHIP	Mature miRNA region
NPTX1	Mature miRNA region
UNK	Mature miRNA region
SGSM1	Mature miRNA region
TUBA1B	Mature miRNA region
BCORL1	Mature miRNA region
VARS	Mature miRNA region
RAB5B	Mature miRNA region
ATP1B3	Mature miRNA region
SDHA	Mature miRNA region
FAM195A	Mature miRNA region
MT-ND2	Mature miRNA region
CSNK2A1	Mature miRNA region
TLN1	Mature miRNA region
TRRAP	Mature miRNA region
MT-CO1	Mature miRNA region
KMT2D	Mature miRNA region
GTF3C1	Mature miRNA region
EIF4EBP2	Mature miRNA region
PBX3	Mature miRNA region
PTMA	Mature miRNA region
NFATC2IP	Mature miRNA region
URB1	Mature miRNA region
LSM2	Mature miRNA region
BAMBI	Mature miRNA region
CCAR2	Mature miRNA region
LYRM2	Mature miRNA region
BAG6	Mature miRNA region
FAM213B	Mature miRNA region
RTN3	Mature miRNA region
DUSP7	Mature miRNA region
WBP1L	Mature miRNA region
EMC10	Mature miRNA region
DROSHA	Mature miRNA region
HOXA13	Mature miRNA region
RAB35	Mature miRNA region
NDFIP2	Mature miRNA region
UBAP2L	Mature miRNA region
MT-ND3	Mature miRNA region
WDR6	Mature miRNA region
NCOA6	Mature miRNA region
PDCD6IP	Mature miRNA region
SETD1A	Mature miRNA region
MAGED1	Mature miRNA region
COASY	Mature miRNA region
ZNF703	Mature miRNA region
CORO1B	Mature miRNA region
GUSB	Mature miRNA region
DCAF7	Mature miRNA region
HIST1H2AM	Mature miRNA region
MT-ND1	Mature miRNA region
SRRM1	Mature miRNA region
UBE3B	Mature miRNA region
RPL36A	Mature miRNA region
ST3GAL2	Mature miRNA region
FKBP4	Mature miRNA region
EPM2AIP1	Mature miRNA region
PRRC2A	Mature miRNA region
GPI	Mature miRNA region
HSP90AA1	Mature miRNA region
XRN2	Mature miRNA region
UBTF	Mature miRNA region
FEM1A	Mature miRNA region
UBB	Mature miRNA region
FOXJ2	Mature miRNA region
HIST2H2BF	Mature miRNA region
NT5DC2	Mature miRNA region
SYMPK	Mature miRNA region
EIF2B5	Mature miRNA region
ANKFY1	Mature miRNA region
WDR46	Mature miRNA region
HMGA2	Mature miRNA region
TUBA1C	Mature miRNA region
FAM160A2	Mature miRNA region
KIAA1244	Mature miRNA region
RPS2	Mature miRNA region
PAIP1	Mature miRNA region
MINK1	Mature miRNA region
PDXK	Mature miRNA region
RPL29	Mature miRNA region
HIST1H3G	Mature miRNA region

Extended variants
information (count: 116 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532002859	chr1:94311397-94311398	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
2	rs147335024	chr1:94311419-94311420	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
3	rs139857864	chr1:94311420-94311421	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
4	rs528031228	chr1:94311475-94311476	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs377676850	chr1:94311495-94311496	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs112586439	chr1:94311509-94311510	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs567864287	chr1:94311521-94311522	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs371027445	chr1:94311530-94311531	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs149830639	chr1:94311554-94311555	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs72967379	chr1:94311562-94311563	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12073888	chr1:94311576-94311577	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs35545334	chr1:94311668-94311669	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs571738963	chr1:94311698-94311699	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs71710678	chr1:94311703-94311704	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs538734316	chr1:94311730-94311731	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs554172104	chr1:94311732-94311733	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs565925516	chr1:94311763-94311764	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs536594421	chr1:94311812-94311813	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs554394826	chr1:94311832-94311833	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs575848142	chr1:94311835-94311836	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs543187139	chr1:94311885-94311886	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs375550107	chr1:94311930-94311931	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs145493932	chr1:94311950-94311951	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
24	rs368002202	chr1:94311959-94311960	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
25	rs540762070	chr1:94312077-94312078	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
26	rs559349511	chr1:94312082-94312083	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
27	rs115122700	chr1:94312083-94312084	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
28	rs148431184	chr1:94312100-94312101	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs561528236	chr1:94312175-94312176	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
30	rs531962680	chr1:94312182-94312183	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
31	rs113540654	chr1:94312195-94312196	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
32	rs550423950	chr1:94312219-94312220	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
33	rs571853395	chr1:94312222-94312223	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
34	rs142484350	chr1:94312225-94312226	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
35	rs547572546	chr1:94312265-94312266	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
36	rs566068284	chr1:94312273-94312274	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
37	rs536219235	chr1:94312311-94312312	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
38	rs554465942	chr1:94312363-94312364	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
39	rs535725538	chr1:94312396-94312397	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs569643928	chr1:94312442-94312443	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region miRNA	112 gene(s)	Overlapped CNVs	n/a
41	rs111681287	chr1:94312482-94312483	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs147446599	chr1:94312528-94312529	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs202198870	chr1:94312533-94312534	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs373815674	chr1:94312542-94312543	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs367709116	chr1:94312544-94312545	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs370018837	chr1:94312554-94312555	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs374051518	chr1:94312558-94312559	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs76338952	chr1:94312560-94312561	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs372673623	chr1:94312563-94312564	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs2391318	chr1:94312566-94312567	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94290200-94311400	Weak transcription	Aorta	Aorta
2	chr1:94300800-94311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:94303800-94311600	Weak transcription	Gastric	stomach
4	chr1:94307600-94311800	Weak transcription	Spleen	Spleen
5	chr1:94308400-94311600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:94309600-94311400	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:94309600-94311400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr1:94309600-94311400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:94309600-94311400	Enhancers	Placenta	Placenta
10	chr1:94309800-94311800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:94310000-94311400	Enhancers	Fetal Intestine Small	intestine
12	chr1:94310000-94311600	Enhancers	Fetal Heart	heart
13	chr1:94310200-94311400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:94310400-94311400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr1:94310400-94311600	Flanking Active TSS	Hela-S3	cervix
16	chr1:94310800-94311400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:94311000-94311400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:94311000-94311400	Enhancers	Liver	Liver
19	chr1:94311000-94311400	Enhancers	Left Ventricle	heart
20	chr1:94311000-94311400	Flanking Active TSS	NHDF-Ad	bronchial
21	chr1:94311000-94311800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:94311000-94311800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:94311000-94311800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:94311000-94311800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr1:94311000-94311800	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr1:94311000-94311800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr1:94311000-94311800	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr1:94311000-94311800	Flanking Active TSS	Dnd41	blood
29	chr1:94311000-94311800	Flanking Active TSS	NHLF	lung
30	chr1:94311000-94312400	Flanking Active TSS	HMEC	breast
31	chr1:94311200-94311400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr1:94311200-94311400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:94311200-94311400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:94311200-94311400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:94311200-94311400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:94311200-94311400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr1:94311200-94311400	Enhancers	Primary T cells from cord blood	blood
38	chr1:94311200-94311400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:94311200-94311400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:94311200-94311400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:94311200-94311400	Flanking Active TSS	Colonic Mucosa	Colon
42	chr1:94311200-94311400	Flanking Active TSS	Fetal Brain Male	brain
43	chr1:94311200-94311400	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr1:94311200-94311400	Enhancers	Fetal Thymus	thymus
45	chr1:94311200-94311400	Enhancers	Psoas Muscle	Psoas
46	chr1:94311200-94311400	Enhancers	Right Atrium	heart
47	chr1:94311200-94311400	Flanking Active TSS	Right Ventricle	heart
48	chr1:94311200-94311400	Flanking Active TSS	Thymus	Thymus
49	chr1:94311200-94311400	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr1:94311200-94311400	Flanking Active TSS	HSMM	muscle

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