Variant report

Variant	esv1797391
Chromosome Location	chr1:97188394-97293023
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:565)
CpG islands
(count:183)
Chromatin interactive
region (count:66)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:7)

(count:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:97237949-97238366	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:97193528-97193710	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:97205907-97205957	K562	blood:	n/a	n/a
4	BACH1	chr1:97207568-97207587	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr1:97205895-97206177	IMR90	lung:	n/a	chr1:97206051-97206062
6	CEBPB	chr1:97262073-97262288	K562	blood:	n/a	chr1:97262251-97262264
7	CEBPB	chr1:97205887-97206183	HepG2	liver:	n/a	chr1:97206051-97206062
8	CEBPB	chr1:97213180-97213471	K562	blood:	n/a	n/a
9	CEBPB	chr1:97222904-97222982	IMR90	lung:	n/a	n/a
10	CEBPB	chr1:97193517-97193755	K562	blood:	n/a	chr1:97193601-97193612
11	CEBPB	chr1:97237867-97238201	HepG2	liver:	n/a	n/a
12	CEBPB	chr1:97222827-97223094	K562	blood:	n/a	n/a
13	CEBPB	chr1:97205970-97206216	H1-hESC	embryonic stem cell:	n/a	chr1:97206051-97206062
14	CEBPB	chr1:97193435-97193769	HepG2	liver:	n/a	chr1:97193601-97193612
15	CEBPB	chr1:97205914-97206224	Hela-S3	cervix:	n/a	chr1:97206051-97206062
16	CEBPB	chr1:97205895-97206220	A549	lung:	n/a	chr1:97206051-97206062
17	CEBPB	chr1:97205875-97206220	K562	blood:	n/a	chr1:97206051-97206062
18	CEBPB	chr1:97186960-97188485	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr1:97209684-97209690	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr1:97187426-97188595	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr1:97188768-97188985	GM12878	blood:	n/a	n/a
22	CHD2	chr1:97187031-97188487	K562	blood:	n/a	chr1:97187163-97187170
23	CTCF	chr1:97222440-97222590	HCFaa	heart:	n/a	n/a
24	CTCF	chr1:97193614-97193703	Fibrobl	skin:	n/a	n/a
25	CTCF	chr1:97222500-97222650	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr1:97222360-97222510	AG04450	lung:	n/a	n/a
27	CTCF	chr1:97222387-97222680	GM12878	blood:	n/a	n/a
28	CTCF	chr1:97222400-97222550	BE2_C	brain:	n/a	n/a
29	CTCF	chr1:97222560-97222710	HPF	lung:	n/a	n/a
30	CTCF	chr1:97222440-97222590	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr1:97222460-97222610	SAEC	small airway:	n/a	n/a
32	CTCF	chr1:97222460-97222610	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr1:97222460-97222610	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr1:97222465-97222629	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr1:97222531-97222601	Gliobla	brain:	n/a	n/a
36	CTCF	chr1:97222420-97222570	GM12872	blood:	n/a	n/a
37	CTCF	chr1:97222460-97222610	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr1:97222440-97222590	HL-60	blood:	n/a	n/a
39	CTCF	chr1:97222540-97222690	RPTEC	kidney:	n/a	n/a
40	CTCF	chr1:97220620-97220770	HMF	breast:	n/a	n/a
41	CTCF	chr1:97222486-97222603	NHEK	skin:	n/a	n/a
42	CTCF	chr1:97222480-97222609	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr1:97222460-97222610	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr1:97222340-97222490	RPTEC	kidney:	n/a	n/a
45	CTCF	chr1:97222500-97222650	AG09319	gingival:	n/a	n/a
46	CTCF	chr1:97222480-97222630	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr1:97244625-97244679	GM13976	blood:	n/a	n/a
48	CTCF	chr1:97222340-97222490	BE2_C	brain:	n/a	n/a
49	CTCF	chr1:97289386-97289437	Fibrobl	skin:	n/a	n/a
50	CTCF	chr1:97222495-97222579	Hela-S3	cervix:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:97279796-97279846	HepG2	liver:	n/a
2	chr1:97279796-97279846	AG10803	skin:	n/a
3	chr1:97279796-97279846	HEEpiC	esophagus:	n/a
4	chr1:97191447-97191497	HEEpiC	esophagus:	n/a
5	chr1:97228437-97228487	HCM	heart:	n/a
6	chr1:97228437-97228487	HepG2	liver:	n/a
7	chr1:97191447-97191497	PANC-1	pancreas:	n/a
8	chr1:97279796-97279846	A549	lung:	n/a
9	chr1:97191447-97191497	AG04449	skin:	fetal
10	chr1:97279796-97279846	AoSMC	blood vessel:	n/a
11	chr1:97228437-97228487	GM12878	blood:	n/a
12	chr1:97191447-97191497	NB4	blood:	n/a
13	chr1:97279796-97279846	Hela-S3	cervix:	n/a
14	chr1:97279796-97279846	HUVEC	blood vessel:	n/a
15	chr1:97228437-97228487	NH-A	brain:	n/a
16	chr1:97191447-97191497	HEK293	kidney:	embryo
17	chr1:97279796-97279846	U87	brain:	n/a
18	chr1:97228437-97228487	ECC-1	luminal epithelium:	n/a
19	chr1:97228437-97228487	AoSMC	blood vessel:	n/a
20	chr1:97228437-97228487	PFSK-1	brain:	n/a
21	chr1:97279796-97279846	ProgFib	skin:	n/a
22	chr1:97191447-97191497	SKMC	muscle:	n/a
23	chr1:97228437-97228487	A549	lung:	n/a
24	chr1:97228437-97228487	HL-60	blood:	n/a
25	chr1:97228437-97228487	SK-N-SH_RA	brain:	n/a
26	chr1:97279796-97279846	SKMC	muscle:	n/a
27	chr1:97279796-97279846	HCPEpiC	choroid plexus:	n/a
28	chr1:97228437-97228487	NHDF-neo	bronchial:	n/a
29	chr1:97279796-97279846	AG09319	gingival:	n/a
30	chr1:97191447-97191497	HNPCEpiC	eye:	n/a
31	chr1:97191447-97191497	Caco-2	colon:	n/a
32	chr1:97279796-97279846	RPTEC	kidney:	n/a
33	chr1:97228437-97228487	BE2_C	brain:	n/a
34	chr1:97191447-97191497	BE2_C	brain:	n/a
35	chr1:97228437-97228487	HEK293	kidney:	embryo
36	chr1:97228437-97228487	SAEC	small airway:	n/a
37	chr1:97191447-97191497	HL-60	blood:	n/a
38	chr1:97279796-97279846	Caco-2	colon:	n/a
39	chr1:97279796-97279846	HCF	heart:	n/a
40	chr1:97228437-97228487	HNPCEpiC	eye:	n/a
41	chr1:97191447-97191497	PrEC	prostate:	n/a
42	chr1:97279796-97279846	HCT-116	colon:	n/a
43	chr1:97279796-97279846	HNPCEpiC	eye:	n/a
44	chr1:97228437-97228487	CMK	blood:	n/a
45	chr1:97228437-97228487	Jurkat	blood:	n/a
46	chr1:97191447-97191497	HepG2	liver:	n/a
47	chr1:97279796-97279846	HRE	kidney:	n/a
48	chr1:97279796-97279846	MCF-7	breast:	n/a
49	chr1:97191447-97191497	H1-hESC	embryonic stem cell:	embryo
50	chr1:97228437-97228487	HAEpiC	amniotic membrane:	n/a

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:97229659..97233056-chr1:97234326..97236827,4	K562	blood:
2	chr1:97239246..97241395-chr1:97243931..97246701,2	K562	blood:
3	chr1:97265925..97271005-chr1:97271723..97275305,6	K562	blood:
4	chr1:97186905..97188651-chr1:97192849..97194502,2	K562	blood:
5	chr1:97186163..97189722-chr1:97192382..97194410,3	MCF-7	breast:
6	chr1:97253331..97255735-chr1:97258859..97262551,4	K562	blood:
7	chr1:97260529..97262425-chr1:97279371..97282004,2	K562	blood:
8	chr1:97214076..97216446-chr1:97269233..97271245,2	K562	blood:
9	chr1:97192682..97195496-chr1:97195725..97198522,3	K562	blood:
10	chr1:97230559..97232452-chr1:97240199..97242637,2	K562	blood:
11	chr1:97186433..97189424-chr1:97201467..97203616,2	K562	blood:
12	chr1:97198539..97201059-chr1:97203019..97206054,3	K562	blood:
13	chr1:97183615..97185204-chr1:97188330..97190541,2	K562	blood:
14	chr1:97239246..97241395-chr1:97243931..97246701,2	K562	blood:
15	chr1:97229659..97233056-chr1:97234326..97236827,4	K562	blood:
16	chr1:97244600..97247454-chr1:97249696..97251966,2	K562	blood:
17	chr1:97196400..97201176-chr1:97201528..97207021,6	K562	blood:
18	chr1:97198539..97201059-chr1:97203019..97206054,3	K562	blood:
19	chr1:97230559..97232452-chr1:97240199..97242637,2	K562	blood:
20	chr1:97184820..97186357-chr1:97189356..97191096,2	MCF-7	breast:
21	chr1:97271243..97272760-chr1:97276004..97278150,2	K562	blood:
22	chr1:97291041..97293300-chr1:97295214..97296752,2	K562	blood:
23	chr1:97260529..97262425-chr1:97279371..97282004,2	K562	blood:
24	chr1:97244164..97244720-chr15:102234222..102234888,2	MCF-7	breast:
25	chr1:97197858..97199535-chr1:97199584..97201298,2	K562	blood:
26	chr1:97187688..97188569-chr12:6643781..6644363,2	Hela-S3	cervix:
27	chr1:97208833..97210812-chr1:97213392..97216325,3	K562	blood:
28	chr1:97185922..97188883-chr1:97189602..97191671,2	MCF-7	breast:
29	chr1:97202628..97206379-chr1:97208567..97211407,3	MCF-7	breast:
30	chr1:97242185..97244565-chr1:97259946..97261881,2	K562	blood:
31	chr1:97227700..97229605-chr1:97233140..97235543,2	K562	blood:
32	chr1:97214334..97217094-chr1:97242670..97245591,2	MCF-7	breast:
33	chr1:97245566..97247074-chr1:97248881..97250722,2	K562	blood:
34	chr1:97253331..97255735-chr1:97258859..97262551,4	K562	blood:
35	chr1:97196400..97201176-chr1:97201528..97207021,6	K562	blood:
36	chr1:97242197..97244802-chr1:97246498..97250194,3	K562	blood:
37	chr1:97271243..97273123-chr1:97276004..97278150,3	K562	blood:
38	chr1:97186153..97188145-chr1:97266939..97269895,2	K562	blood:
39	chr1:97227700..97229605-chr1:97233140..97235543,2	K562	blood:
40	chr1:97186109..97190198-chr1:97195662..97200448,7	K562	blood:
41	chr1:97237632..97240050-chr1:97250024..97251603,2	K562	blood:
42	chr1:97225024..97226584-chr1:97232418..97233938,2	K562	blood:
43	chr1:97192682..97195496-chr1:97195725..97198522,3	K562	blood:
44	chr1:97291800..97294464-chr1:97295192..97296714,2	K562	blood:
45	chr1:97190427..97193323-chr1:97215149..97216990,2	K562	blood:
46	chr1:97214076..97216446-chr1:97269233..97271245,2	K562	blood:
47	chr1:97185840..97188668-chr1:97188930..97190541,2	K562	blood:
48	chr1:97190427..97193323-chr1:97215149..97216990,2	K562	blood:
49	chr1:97225024..97226584-chr1:97232418..97233938,2	K562	blood:
50	chr1:96382207..96383918-chr1:97220930..97222939,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	PTBP2	hsa-miR-215-5p	chr1:97280108-97280128
2	PTBP2	hsa-miR-133b	chr1:97280165-97280184
3	PTBP2	hsa-miR-1	chr1:97279088-97279108
4	PTBP2	hsa-miR-133b	chr1:97279979-97280001
5	PTBP2	hsa-miR-133b	chr1:97279994-97280001
6	PTBP2	hsa-miR-192-5p	chr1:97280108-97280128
7	PTBP2	hsa-miR-133b	chr1:97237980-97237998

Variant related genes	Relation type
PTBP2	TF binding region
PTBP2	CpG island
ENSG00000117569	chromatin interactions
ENSG00000111640	chromatin interactions
ENSG00000196605	chromatin interactions

Extended variants
information (count: 3962 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:3962 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7552545	chr1:97188394-97188395	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543821155	chr1:97188422-97188423	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182761756	chr1:97188447-97188448	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563501462	chr1:97188456-97188457	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111233830	chr1:97188484-97188485	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78093879	chr1:97188495-97188496	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7531045	chr1:97188559-97188560	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs546779971	chr1:97188588-97188589	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs112795189	chr1:97188599-97188600	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs565282768	chr1:97188621-97188622	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559635759	chr1:97188675-97188676	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372816437	chr1:97188713-97188714	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367996059	chr1:97188773-97188774	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527728218	chr1:97188778-97188779	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75019551	chr1:97188783-97188784	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566687543	chr1:97188805-97188806	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529030750	chr1:97188808-97188809	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548788509	chr1:97188856-97188857	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528288453	chr1:97188890-97188891	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568579753	chr1:97188945-97188946	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553569838	chr1:97188986-97188987	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148386635	chr1:97189006-97189007	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142226500	chr1:97189007-97189008	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571221800	chr1:97189019-97189020	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533594922	chr1:97189020-97189021	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554433762	chr1:97189065-97189066	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187691653	chr1:97189075-97189076	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs3762411	chr1:97189091-97189092	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs373728182	chr1:97189126-97189127	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201223963	chr1:97189154-97189155	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568363561	chr1:97189163-97189164	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370809577	chr1:97189164-97189165	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs202229496	chr1:97189172-97189173	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535866203	chr1:97189217-97189218	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545513184	chr1:97189219-97189220	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs193109791	chr1:97189236-97189237	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572388144	chr1:97189240-97189241	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111625719	chr1:97189260-97189261	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs3762410	chr1:97189288-97189289	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs563766701	chr1:97189327-97189328	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372912621	chr1:97189341-97189342	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566868636	chr1:97189363-97189364	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529167608	chr1:97189376-97189377	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs138390411	chr1:97189377-97189378	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs538898559	chr1:97189423-97189424	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562347149	chr1:97189430-97189431	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376814063	chr1:97189433-97189434	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531448817	chr1:97189484-97189485	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551450168	chr1:97189492-97189493	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs183120217	chr1:97189518-97189519	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2944 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97186400-97188600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:97186400-97188600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr1:97186400-97189600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:97186400-97189600	Active TSS	NHDF-Ad	bronchial
5	chr1:97186400-97190000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr1:97186600-97188400	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr1:97186600-97188400	Active TSS	Pancreas	Pancrea
8	chr1:97186600-97188600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr1:97186600-97188600	Active TSS	Placenta	Placenta
10	chr1:97186600-97188800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:97186600-97188800	Active TSS	Rectal Smooth Muscle	rectum
12	chr1:97186600-97189000	Active TSS	Fetal Intestine Large	intestine
13	chr1:97186600-97189000	Active TSS	Fetal Thymus	thymus
14	chr1:97186600-97189000	Active TSS	Psoas Muscle	Psoas
15	chr1:97186600-97189200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:97186600-97189200	Active TSS	Colonic Mucosa	Colon
17	chr1:97186600-97189200	Active TSS	Colon Smooth Muscle	Colon
18	chr1:97186600-97189200	Active TSS	Fetal Brain Male	brain
19	chr1:97186600-97189200	Active TSS	Fetal Muscle Trunk	muscle
20	chr1:97186600-97189200	Active TSS	Fetal Muscle Leg	muscle
21	chr1:97186600-97189200	Active TSS	Ovary	ovary
22	chr1:97186600-97189200	Active TSS	Thymus	Thymus
23	chr1:97186600-97189400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:97186600-97189600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:97186600-97189800	Active TSS	NHLF	lung
26	chr1:97186600-97190200	Active TSS	Stomach Smooth Muscle	stomach
27	chr1:97186800-97188400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:97186800-97188400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:97186800-97188400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:97186800-97188400	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr1:97186800-97188400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:97186800-97188400	Active TSS	Gastric	stomach
33	chr1:97186800-97188400	Active TSS	Left Ventricle	heart
34	chr1:97186800-97188400	Active TSS	Lung	lung
35	chr1:97186800-97188600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:97186800-97188600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:97186800-97188600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:97186800-97188600	Active TSS	Esophagus	oesophagus
39	chr1:97186800-97188600	Active TSS	Placenta Amnion	Placenta Amnion
40	chr1:97186800-97188600	Active TSS	HepG2	liver
41	chr1:97186800-97188800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr1:97186800-97188800	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr1:97186800-97188800	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr1:97186800-97188800	Active TSS	Brain Substantia Nigra	brain
45	chr1:97186800-97188800	Active TSS	Fetal Kidney	kidney
46	chr1:97186800-97188800	Active TSS	A549	lung
47	chr1:97186800-97189000	Active TSS	Right Ventricle	heart
48	chr1:97186800-97189000	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr1:97186800-97189000	Active TSS	HSMM	muscle
50	chr1:97186800-97189200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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