Variant report

Variant	nsv998755
Chromosome Location	chr1:94294015-94341712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2247)
CpG islands
(count:1223)
Chromatin interactive
region (count:95)
LncRNA
region (count:7)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:2247 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:94311153-94311976	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:94311879-94312210	K562	blood:	n/a	n/a
3	ARID3A	chr1:94313654-94313908	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:94309827-94310183	K562	blood:	n/a	n/a
5	ARID3A	chr1:94293416-94294038	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:94309819-94310153	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:94313012-94313385	HepG2	liver:	n/a	n/a
8	ATF1	chr1:94341231-94341246	K562	blood:	n/a	n/a
9	ATF2	chr1:94313457-94313985	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr1:94312670-94313408	GM12878	blood:	n/a	n/a
11	ATF2	chr1:94312616-94313424	GM12878	blood:	n/a	n/a
12	ATF2	chr1:94311062-94311516	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr1:94313518-94313877	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr1:94313432-94313983	GM12878	blood:	n/a	n/a
15	ATF2	chr1:94311057-94311531	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr1:94309755-94310109	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr1:94311827-94312451	GM12878	blood:	n/a	n/a
18	ATF2	chr1:94312732-94313398	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr1:94312744-94313440	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF3	chr1:94312555-94313819	A549	lung:	n/a	n/a
21	ATF3	chr1:94312858-94313422	K562	blood:	n/a	n/a
22	ATF3	chr1:94312799-94313495	A549	lung:	n/a	n/a
23	ATF3	chr1:94313430-94313897	K562	blood:	n/a	n/a
24	ATF3	chr1:94312594-94313900	HCT-116	colon:	n/a	n/a
25	BACH1	chr1:94312802-94313321	K562	blood:	n/a	n/a
26	BACH1	chr1:94312169-94312444	K562	blood:	n/a	n/a
27	BACH1	chr1:94311721-94312586	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr1:94305017-94305098	K562	blood:	n/a	n/a
29	BATF	chr1:94313024-94313278	GM12878	blood:	n/a	n/a
30	BCL3	chr1:94311114-94311405	GM12878	blood:	n/a	n/a
31	BCL3	chr1:94312837-94313399	A549	lung:	n/a	chr1:94312982-94312995
32	BCL3	chr1:94312943-94313348	A549	lung:	n/a	chr1:94312982-94312995
33	BCL3	chr1:94311520-94312002	A549	lung:	n/a	chr1:94311806-94311819 chr1:94311842-94311855
34	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
35	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
36	BCLAF1	chr1:94312704-94313393	GM12878	blood:	n/a	chr1:94312756-94312769 chr1:94312982-94312995
37	BCLAF1	chr1:94312764-94313906	GM12878	blood:	n/a	chr1:94312982-94312995
38	BDP1	chr1:94312900-94313384	Hela-S3	cervix:	n/a	n/a
39	BDP1	chr1:94312866-94313323	K562	blood:	n/a	n/a
40	BHLHE40	chr1:94312650-94313816	GM12878	blood:	n/a	chr1:94312748-94312764
41	BHLHE40	chr1:94311471-94312445	GM12878	blood:	n/a	chr1:94311976-94311992
42	BHLHE40	chr1:94309832-94310199	K562	blood:	n/a	n/a
43	BHLHE40	chr1:94311236-94312481	K562	blood:	n/a	chr1:94311976-94311992
44	BHLHE40	chr1:94312790-94313857	K562	blood:	n/a	n/a
45	BHLHE40	chr1:94312731-94313294	HepG2	liver:	n/a	chr1:94312748-94312764
46	BHLHE40	chr1:94311132-94312396	HepG2	liver:	n/a	chr1:94311976-94311992
47	BHLHE40	chr1:94311048-94311612	A549	lung:	n/a	n/a
48	BRCA1	chr1:94312101-94312272	GM12878	blood:	n/a	n/a
49	BRCA1	chr1:94309888-94310149	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr1:94312002-94312014	HepG2	liver:	n/a	n/a

(count:1223 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:94313627-94313677	SKMC	muscle:	n/a
2	chr1:94312206-94312256	NT2-D1	testis:	n/a
3	chr1:94312038-94312088	SKMC	muscle:	n/a
4	chr1:94313627-94313677	SKMC	muscle:	n/a
5	chr1:94312206-94312256	NT2-D1	testis:	n/a
6	chr1:94312038-94312088	SKMC	muscle:	n/a
7	chr1:94305707-94305757	HEEpiC	esophagus:	n/a
8	chr1:94313460-94313510	LNCaP	prostate:	n/a
9	chr1:94305707-94305757	HCPEpiC	choroid plexus:	n/a
10	chr1:94316420-94316470	HL-60	blood:	n/a
11	chr1:94313627-94313677	GM12892	blood:	n/a
12	chr1:94313454-94313504	ovcar-3	ovarian:	n/a
13	chr1:94312360-94312410	ProgFib	skin:	n/a
14	chr1:94311818-94311868	NB4	blood:	n/a
15	chr1:94313343-94313393	U87	brain:	n/a
16	chr1:94313454-94313504	HEK293	kidney:	embryo
17	chr1:94312368-94312418	GM19239	blood:	n/a
18	chr1:94312233-94312283	ovcar-3	ovarian:	n/a
19	chr1:94311818-94311868	NHDF-neo	bronchial:	n/a
20	chr1:94305707-94305757	U87	brain:	n/a
21	chr1:94309630-94309680	AG04450	lung:	fetal
22	chr1:94311961-94312011	LNCaP	prostate:	n/a
23	chr1:94313627-94313677	HNPCEpiC	eye:	n/a
24	chr1:94312038-94312088	HL-60	blood:	n/a
25	chr1:94312380-94312430	HEK293	kidney:	embryo
26	chr1:94309630-94309680	PFSK-1	brain:	n/a
27	chr1:94311961-94312011	AG10803	skin:	n/a
28	chr1:94312360-94312410	MCF-7	breast:	n/a
29	chr1:94311961-94312011	HAEpiC	amniotic membrane:	n/a
30	chr1:94313745-94313795	GM06990	blood:	n/a
31	chr1:94313454-94313504	SK-N-SH_RA	brain:	n/a
32	chr1:94309630-94309680	HCPEpiC	choroid plexus:	n/a
33	chr1:94312233-94312283	NB4	blood:	n/a
34	chr1:94305707-94305757	SKMC	muscle:	n/a
35	chr1:94305707-94305757	AG09319	gingival:	n/a
36	chr1:94313745-94313795	SK-N-SH_RA	brain:	n/a
37	chr1:94312368-94312418	GM12892	blood:	n/a
38	chr1:94312233-94312283	Caco-2	colon:	n/a
39	chr1:94311818-94311868	H1-hESC	embryonic stem cell:	embryo
40	chr1:94313600-94313650	ovcar-3	ovarian:	n/a
41	chr1:94313745-94313795	HRPEpiC	eye:	n/a
42	chr1:94312360-94312410	Caco-2	colon:	n/a
43	chr1:94313600-94313650	Caco-2	colon:	n/a
44	chr1:94312233-94312283	ECC-1	luminal epithelium:	n/a
45	chr1:94313454-94313504	SK-N-SH	brain:	n/a
46	chr1:94316420-94316470	SK-N-MC	brain:	n/a
47	chr1:94313343-94313393	HEEpiC	esophagus:	n/a
48	chr1:94313460-94313510	NT2-D1	testis:	n/a
49	chr1:94305707-94305757	AG04449	skin:	fetal
50	chr1:94313745-94313795	BE2_C	brain:	n/a

(count:95 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:94311521..94312144-chr7:39988387..39989256,2	HCT-116	colon:
2	chr1:94294545..94296668-chr1:94310661..94312419,2	K562	blood:
3	chr1:94312714..94313428-chr16:2301058..2301846,2	Hela-S3	cervix:
4	chr1:94333834..94335597-chr1:94338840..94340897,2	MCF-7	breast:
5	chr1:93643262..93645748-chr1:94311384..94313517,2	K562	blood:
6	chr1:94307315..94310834-chr1:94315340..94316960,3	MCF-7	breast:
7	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
8	chr1:94312180..94314378-chr1:94343204..94344804,3	K562	blood:
9	chr1:94340612..94342966-chr1:94406740..94409371,2	K562	blood:
10	chr1:94310035..94314107-chr1:94336308..94338315,4	K562	blood:
11	chr1:94311158..94313376-chr1:94883814..94886511,2	K562	blood:
12	chr1:94337347..94339597-chr1:94344098..94346567,2	MCF-7	breast:
13	chr1:94311932..94312926-chr1:173793602..173794332,2	Hela-S3	cervix:
14	chr1:94340793..94342610-chr1:94344226..94345915,2	K562	blood:
15	chr1:94326500..94334861-chr1:94334949..94340833,11	K562	blood:
16	chr1:94310847..94313357-chr1:94374431..94376609,2	K562	blood:
17	chr1:94311698..94312428-chr12:62653393..62653903,2	Hela-S3	cervix:
18	chr1:94310035..94314107-chr1:94336308..94338315,4	K562	blood:
19	chr1:94294008..94296854-chr1:94310661..94313251,3	K562	blood:
20	chr1:94085637..94087323-chr1:94315969..94317684,2	MCF-7	breast:
21	chr1:94311345..94312464-chr5:43483381..43484059,3	Hela-S3	cervix:
22	chr1:94311804..94314669-chr1:94314970..94317163,2	MCF-7	breast:
23	chr1:94285157..94287017-chr1:94328663..94330459,2	K562	blood:
24	chr1:94146501..94148043-chr1:94311466..94313377,2	MCF-7	breast:
25	chr1:93544000..93546020-chr1:94311349..94313397,2	MCF-7	breast:
26	chr1:94341311..94342954-chr1:94373735..94375805,2	MCF-7	breast:
27	chr1:94279623..94281366-chr1:94292858..94294814,2	MCF-7	breast:
28	chr1:94329412..94331639-chr1:94331729..94334290,2	K562	blood:
29	chr1:94094795..94095616-chr1:94309558..94310553,5	K562	blood:
30	chr1:93643769..93645748-chr1:94311324..94312884,2	K562	blood:
31	chr1:94310322..94313245-chr1:94329238..94330853,2	MCF-7	breast:
32	chr1:94340857..94342610-chr1:94343304..94345726,2	K562	blood:
33	chr1:94312026..94313686-chr1:94337188..94339061,2	MCF-7	breast:
34	chr1:94329412..94331639-chr1:94331729..94334290,2	K562	blood:
35	chr1:94315633..94319063-chr1:94342848..94345734,4	K562	blood:
36	chr1:94096672..94097335-chr1:94309478..94310673,3	K562	blood:
37	chr1:94311791..94312311-chr18:2655228..2655886,2	Hela-S3	cervix:
38	chr1:94032781..94034755-chr1:94312060..94314320,2	K562	blood:
39	chr1:94330084..94333189-chr1:94373240..94377284,3	K562	blood:
40	chr1:94332079..94335914-chr1:94341026..94344306,4	K562	blood:
41	chr1:94311636..94312585-chr10:112678360..112678969,2	Hela-S3	cervix:
42	chr1:93808883..93811348-chr1:94310727..94314254,3	K562	blood:
43	chr1:93811555..93814046-chr1:94339710..94342283,2	K562	blood:
44	chr1:94304960..94306492-chr1:94311503..94313752,2	MCF-7	breast:
45	chr1:94312783..94313640-chr15:35280176..35280971,2	Hela-S3	cervix:
46	chr1:94309833..94313487-chr1:94314841..94317688,5	K562	blood:
47	chr1:94310889..94314465-chr1:94319424..94321197,3	K562	blood:
48	chr1:94337226..94339966-chr1:94373816..94376815,2	K562	blood:
49	chr1:94311883..94312816-chr6:41068705..41069705,3	Hela-S3	cervix:
50	chr1:94330084..94332502-chr1:94374420..94376591,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FNBP1L-2	chr1:94312598-94312780	NONHSAT004549
2	lnc-DNTTIP2-1	chr1:94311123-94311461	NONHSAT004544
3	lnc-DNTTIP2-1	chr1:94311123-94311268	NONHSAT004545
4	lnc-FNBP1L-2	chr1:94312708-94317158	NONHSAT004550
5	lnc-FNBP1L-2	chr1:94313323-94314010	NONHSAT004549
6	lnc-FNBP1L-4	chr1:94317793-94319887	NONHSAT004554
7	lnc-FNBP1L-2	chr1:94312730-94314495	ENSG00000260464.1

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
DNTTIP2	TF binding region
ENSG00000260464	TF binding region
BCAR3	CpG island
MIR760	CpG island
DNTTIP2	CpG island
ENSG00000260464	CpG island
ENSG00000223745	chromatin interactions
ENSG00000067334	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000168003	chromatin interactions
ENSG00000023909	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000266405	chromatin interactions
ENSG00000166974	chromatin interactions
ENSG00000198673	chromatin interactions
ENSG00000167969	chromatin interactions
ENSG00000214413	chromatin interactions
ENSG00000120334	chromatin interactions
ENSG00000161912	chromatin interactions
ENSG00000101596	chromatin interactions
ENSG00000137942	chromatin interactions
ENSG00000261614	chromatin interactions
ENSG00000260464	chromatin interactions
ENSG00000185591	chromatin interactions
ENSG00000117528	chromatin interactions
ENSG00000122483	chromatin interactions
ENSG00000137936	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000198146	chromatin interactions
ENSG00000117593	chromatin interactions
ENSG00000211575	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000143033	chromatin interactions
MT-ND1	Mature miRNA region
WBP1L	Mature miRNA region
LSM2	Mature miRNA region
DUSP7	Mature miRNA region
TLN1	Mature miRNA region
SON	Mature miRNA region
BCORL1	Mature miRNA region
ZNF618	Mature miRNA region
TUBA1C	Mature miRNA region
ACBD4	Mature miRNA region
SRRM1	Mature miRNA region
HIST1H3G	Mature miRNA region
PRRC2A	Mature miRNA region
PDCD6IP	Mature miRNA region
KMT2D	Mature miRNA region
FAM213B	Mature miRNA region
MT-ND2	Mature miRNA region
FDFT1	Mature miRNA region
RPS2	Mature miRNA region
UBTF	Mature miRNA region
BAG6	Mature miRNA region
ATXN2L	Mature miRNA region
DROSHA	Mature miRNA region
WDR46	Mature miRNA region
RAB5B	Mature miRNA region
FAM195A	Mature miRNA region
HIST1H2AM	Mature miRNA region
RHOT2	Mature miRNA region
HMGA2	Mature miRNA region
GPI	Mature miRNA region
SDHA	Mature miRNA region
BAMBI	Mature miRNA region
UNK	Mature miRNA region
PBX2	Mature miRNA region
FKBP4	Mature miRNA region
MAGED1	Mature miRNA region
CORO1B	Mature miRNA region
PSMD3	Mature miRNA region
EPM2AIP1	Mature miRNA region
HIPK2	Mature miRNA region
PDXK	Mature miRNA region
KIAA1244	Mature miRNA region
RPL29	Mature miRNA region
RTN3	Mature miRNA region
SETD1A	Mature miRNA region
HOXA13	Mature miRNA region
VARS	Mature miRNA region
UBB	Mature miRNA region
ANKFY1	Mature miRNA region
NT5DC2	Mature miRNA region
UBE3B	Mature miRNA region
PHIP	Mature miRNA region
PAIP1	Mature miRNA region
PBX3	Mature miRNA region
URB1	Mature miRNA region
DCAF7	Mature miRNA region
LAMB1	Mature miRNA region
MT-CO1	Mature miRNA region
SGSM1	Mature miRNA region
RPL36A	Mature miRNA region
GUSB	Mature miRNA region
CCAR2	Mature miRNA region
TUBA1B	Mature miRNA region
COASY	Mature miRNA region
LYRM2	Mature miRNA region
HIST2H2BF	Mature miRNA region
RAB35	Mature miRNA region
PEF1	Mature miRNA region
NPTX1	Mature miRNA region
EIF4EBP2	Mature miRNA region
WDR6	Mature miRNA region
HSP90AA1	Mature miRNA region
NCOA6	Mature miRNA region
FAM160A2	Mature miRNA region
SYMPK	Mature miRNA region
ATP1B3	Mature miRNA region
MT-ND3	Mature miRNA region
GTF3C1	Mature miRNA region
TRRAP	Mature miRNA region
NFATC2IP	Mature miRNA region
EIF2B5	Mature miRNA region
MINK1	Mature miRNA region
PTMA	Mature miRNA region
ZNF703	Mature miRNA region
EMC10	Mature miRNA region
UBAP2L	Mature miRNA region
CSNK2A1	Mature miRNA region
FEM1A	Mature miRNA region
FOXJ2	Mature miRNA region
XRN2	Mature miRNA region
ST3GAL2	Mature miRNA region
PPIA	Mature miRNA region
NDFIP2	Mature miRNA region
DNTTIP1	Mature miRNA region

Extended variants
information (count: 2060 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2060 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186430918	chr1:94294138-94294139	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs7544883	chr1:94294190-94294191	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574355619	chr1:94294200-94294201	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs115224561	chr1:94294202-94294203	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs563168629	chr1:94294215-94294216	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs530714213	chr1:94294235-94294236	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs540870542	chr1:94294243-94294244	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs113869100	chr1:94294253-94294254	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs559785351	chr1:94294299-94294300	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs147615079	chr1:94294342-94294343	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs140853782	chr1:94294350-94294351	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs566399691	chr1:94294376-94294377	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs568228116	chr1:94294407-94294408	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs530447952	chr1:94294414-94294415	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs7545147	chr1:94294473-94294474	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7552293	chr1:94294492-94294493	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs537649175	chr1:94294576-94294577	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs558786543	chr1:94294578-94294579	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs374383224	chr1:94294587-94294588	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs139706734	chr1:94294632-94294633	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs191197080	chr1:94294674-94294675	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs145275506	chr1:94294689-94294690	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs570429152	chr1:94294709-94294710	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs181478383	chr1:94294717-94294718	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs552919020	chr1:94294721-94294722	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs187051110	chr1:94294727-94294728	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs72723162	chr1:94294784-94294785	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376489433	chr1:94294821-94294822	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs556825460	chr1:94294826-94294827	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs552550302	chr1:94294860-94294861	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs545945367	chr1:94294861-94294862	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs12140014	chr1:94294864-94294865	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572869637	chr1:94294869-94294870	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs540311269	chr1:94294900-94294901	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs375542873	chr1:94294917-94294918	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs114624017	chr1:94294926-94294927	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs370612142	chr1:94294956-94294957	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs183201470	chr1:94294964-94294965	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs528887507	chr1:94294969-94294970	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs548947592	chr1:94295070-94295071	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs12121389	chr1:94295097-94295098	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531020560	chr1:94295098-94295099	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs149132337	chr1:94295111-94295112	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs567911602	chr1:94295157-94295158	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs6685747	chr1:94295170-94295171	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs535145424	chr1:94295172-94295173	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs75781336	chr1:94295247-94295248	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs372313671	chr1:94295272-94295273	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs185575836	chr1:94295336-94295337	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs189692170	chr1:94295376-94295377	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1234 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94279600-94302800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:94283400-94310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:94284000-94294600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:94284200-94306200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:94284200-94311200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:94284400-94296000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:94286400-94294800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:94286600-94295600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:94290000-94296400	Enhancers	Placenta	Placenta
10	chr1:94290200-94311400	Weak transcription	Aorta	Aorta
11	chr1:94291200-94294800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:94292200-94294200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:94292400-94294200	Enhancers	NHDF-Ad	bronchial
14	chr1:94292400-94294400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:94292400-94294800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:94292400-94294800	Enhancers	HepG2	liver
17	chr1:94292600-94294800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:94292600-94303200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:94292800-94294200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:94292800-94294200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:94292800-94294200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:94292800-94294200	Enhancers	A549	lung
23	chr1:94292800-94294800	Enhancers	HSMM	muscle
24	chr1:94292800-94295400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:94292800-94295600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:94293000-94294200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:94293000-94294200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:94293000-94294800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:94293000-94295000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:94293000-94295000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:94293000-94295400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr1:94293200-94294600	Weak transcription	HSMMtube	muscle
33	chr1:94293200-94294800	Enhancers	HMEC	breast
34	chr1:94293200-94294800	Enhancers	NHEK	skin
35	chr1:94293200-94295000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:94293200-94296600	Weak transcription	Lung	lung
37	chr1:94293400-94294400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:94293600-94294200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:94293600-94294800	Enhancers	Esophagus	oesophagus
40	chr1:94293600-94295000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:94293800-94294200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:94293800-94295400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:94293800-94295400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:94294000-94294200	Enhancers	NH-A	brain
45	chr1:94294000-94295000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:94294000-94295200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:94294000-94302200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:94294200-94295600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr1:94294200-94297800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:94294200-94305400	Weak transcription	A549	lung

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