Variant report

Variant	rs17083610
Chromosome Location	chr6:121751889-121751890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:121751541-121752050	MCF-7	breast:	n/a	chr6:121751763-121751781
2	STAT3	chr6:121751632-121751963	MCF10A-Er-Src	breast:	n/a	n/a
3	CTCF	chr6:121751656-121751893	A549	lung:	n/a	chr6:121751763-121751781
4	RAD21	chr6:121751611-121752068	H1-hESC	embryonic stem cell:	n/a	chr6:121751764-121751783
5	CTCF	chr6:121751640-121751908	Lung_OC	lung:	n/a	chr6:121751763-121751781
6	SMC3	chr6:121751576-121752619	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr6:121751800-121751950	RPTEC	kidney:	n/a	n/a
8	CTCF	chr6:121751624-121751965	T-47D	breast:	n/a	chr6:121751763-121751781
9	CTCF	chr6:121751414-121752191	HCT-116	colon:	n/a	chr6:121751763-121751781
10	TEAD4	chr6:121751629-121751979	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr6:121751663-121751896	K562	blood:	n/a	chr6:121751763-121751781
12	CTCF	chr6:121751740-121751890	NHLF	lung:	n/a	chr6:121751763-121751781
13	CTCF	chr6:121751594-121751960	H1-hESC	embryonic stem cell:	n/a	chr6:121751763-121751781
14	CTCF	chr6:121751650-121751889	LNCaP	prostate:	n/a	chr6:121751763-121751781
15	RAD21	chr6:121751599-121751947	GM12878	blood:	n/a	chr6:121751764-121751783
16	RAD21	chr6:121751542-121751993	SK-N-SH_RA	brain:	n/a	chr6:121751764-121751783
17	RAD21	chr6:121751516-121751982	A549	lung:	n/a	chr6:121751764-121751783
18	CTCF	chr6:121751780-121751930	NHEK	skin:	n/a	n/a
19	ARID3A	chr6:121751471-121751939	HepG2	liver:	n/a	n/a
20	SP1	chr6:121751480-121752062	A549	lung:	n/a	n/a
21	RAD21	chr6:121751620-121751924	HepG2	liver:	n/a	chr6:121751764-121751783
22	CTCF	chr6:121751880-121752030	HCT-116	colon:	n/a	n/a
23	RAD21	chr6:121751533-121752096	ECC-1	luminal epithelium:	n/a	chr6:121751764-121751783
24	RAD21	chr6:121751664-121751909	GM12878	blood:	n/a	chr6:121751764-121751783
25	SMC3	chr6:121751518-121752044	HepG2	liver:	n/a	n/a
26	STAT3	chr6:121751644-121751926	MCF10A-Er-Src	breast:	n/a	n/a
27	CTCF	chr6:121751557-121751971	K562	blood:	n/a	chr6:121751763-121751781
28	RAD21	chr6:121751622-121751962	GM12878	blood:	n/a	chr6:121751764-121751783
29	CTCF	chr6:121751408-121752179	A549	lung:	n/a	chr6:121751763-121751781
30	SMC3	chr6:121751605-121751969	GM12878	blood:	n/a	n/a
31	FOXA1	chr6:121751564-121751907	T-47D	breast:	n/a	chr6:121751698-121751710
32	RAD21	chr6:121751439-121752131	A549	lung:	n/a	chr6:121751764-121751783
33	CTCF	chr6:121751602-121751902	HepG2	liver:	n/a	chr6:121751763-121751781
34	CTCF	chr6:121751616-121752016	A549	lung:	n/a	chr6:121751763-121751781
35	TEAD4	chr6:121751621-121752050	H1-hESC	embryonic stem cell:	n/a	n/a
36	FOXA1	chr6:121751337-121752146	HepG2	liver:	n/a	chr6:121751485-121751497 chr6:121751698-121751710
37	CTCF	chr6:121751760-121751910	GM12864	blood:	n/a	chr6:121751763-121751781
38	STAT3	chr6:121751633-121751923	MCF10A-Er-Src	breast:	n/a	n/a
39	CTCF	chr6:121751415-121752292	SK-N-SH	brain:	n/a	chr6:121751763-121751781
40	FOXA2	chr6:121751430-121752024	A549	lung:	n/a	chr6:121751485-121751497 chr6:121751698-121751710
41	RAD21	chr6:121751526-121752213	IMR90	lung:	n/a	chr6:121751764-121751783
42	CTCF	chr6:121751675-121751936	A549	lung:	n/a	chr6:121751763-121751781
43	CTCF	chr6:121751649-121751890	Hela-S3	cervix:	n/a	chr6:121751763-121751781
44	BRCA1	chr6:121751634-121752475	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr6:121751673-121751893	HepG2	liver:	n/a	chr6:121751763-121751781
46	CTCF	chr6:121751636-121751899	Pancreas_OC	pancreas:	n/a	chr6:121751763-121751781
47	SMC3	chr6:121751371-121752504	SK-N-SH	brain:	n/a	n/a
48	FOXA1	chr6:121751596-121751977	HepG2	liver:	n/a	chr6:121751698-121751710
49	RAD21	chr6:121751458-121752139	HepG2	liver:	n/a	chr6:121751764-121751783
50	RAD21	chr6:121751409-121752191	A549	lung:	n/a	chr6:121751764-121751783

No.	Distal block	Cell Line	Cell type
1	chr6:121751351..121751992-chr6:122505632..122506153,2	MCF-7	breast:
2	chr6:121751445..121752001-chr6:122354544..122355168,2	MCF-7	breast:
3	chr6:121750964..121752256-chr6:121936427..121937285,3	MCF-7	breast:
4	chr6:121751293..121752559-chr6:122354537..122355313,3	MCF-7	breast:
5	chr6:121751740..121752646-chr6:122851368..122852207,2	K562	blood:
6	chr6:121751323..121752265-chr6:122170211..122171292,6	MCF-7	breast:

Variant related genes	Relation type
GJA1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3805787	1.00[YRI][hapmap]
rs7740324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7740467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121751400-121752200	Enhancers	Liver	Liver
2	chr6:121751400-121752400	Enhancers	HepG2	liver
3	chr6:121751600-121752000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:121751600-121752800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:121751600-121752800	Enhancers	Hela-S3	cervix
6	chr6:121751800-121752000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr6:121751800-121752000	Enhancers	Brain Angular Gyrus	brain
8	chr6:121751800-121752000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:121751800-121752200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:121751800-121752200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:121751800-121752200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr6:121751800-121752200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:121751800-121752200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:121751800-121752200	Active TSS	Aorta	Aorta
15	chr6:121751800-121752200	Enhancers	Brain Anterior Caudate	brain
16	chr6:121751800-121752200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:121751800-121752200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr6:121751800-121752200	Active TSS	Right Atrium	heart
19	chr6:121751800-121752200	Active TSS	Stomach Smooth Muscle	stomach
20	chr6:121751800-121752200	Flanking Active TSS	A549	lung
21	chr6:121751800-121752200	Enhancers	NHDF-Ad	bronchial
22	chr6:121751800-121752400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr6:121751800-121752400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:121751800-121752400	Enhancers	Fetal Lung	lung
25	chr6:121751800-121752400	Enhancers	HUVEC	blood vessel
26	chr6:121751800-121752400	Flanking Active TSS	Osteobl	bone
27	chr6:121751800-121752600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr6:121751800-121752600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr6:121751800-121752800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:121751800-121752800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr6:121751800-121753000	Enhancers	Fetal Heart	heart
32	chr6:121751800-121753000	Enhancers	Dnd41	blood

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