Variant report

Variant	rs3094618
Chromosome Location	chr6:30181621-30181622
allele	A/G
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	SIN3AK20	chr6:30180528-30182503	MCF-7	breast:	n/a	n/a
2	CTCF	chr6:30181561-30181635	MCF-7	breast:	n/a	n/a
3	POLR2A	chr6:30180595-30182425	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr6:30180548-30182444	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr6:30180643-30182514	Hela-S3	cervix:	n/a	n/a
6	GTF2F1	chr6:30180745-30182003	Hela-S3	cervix:	n/a	n/a
7	ATF2	chr6:30181567-30181968	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr6:30180618-30182493	HCT-116	colon:	n/a	n/a
9	CHD2	chr6:30180500-30182254	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBP	chr6:30181109-30182057	Hela-S3	cervix:	n/a	n/a
11	YY1	chr6:30181262-30182253	SK-N-SH	brain:	n/a	chr6:30182080-30182089
12	NFYB	chr6:30180780-30181652	GM12878	blood:	n/a	chr6:30181272-30181286
13	TEAD4	chr6:30181001-30181768	ECC-1	luminal epithelium:	n/a	n/a
14	RFX5	chr6:30180770-30182256	HepG2	liver:	n/a	n/a
15	EBF1	chr6:30181159-30182099	GM12878	blood:	n/a	n/a
16	ELF1	chr6:30180706-30182437	HCT-116	colon:	n/a	chr6:30182080-30182089 chr6:30182119-30182128
17	HEY1	chr6:30180902-30182414	HepG2	liver:	n/a	n/a
18	CTCF	chr6:30181515-30181632	MCF-7	breast:	n/a	n/a
19	POLR2A	chr6:30180625-30182700	GM12892	blood:	n/a	n/a
20	POLR2A	chr6:30180868-30182424	HepG2	liver:	n/a	n/a
21	WRNIP1	chr6:30181327-30181875	GM12878	blood:	n/a	n/a
22	GTF2F1	chr6:30180995-30182229	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr6:30180599-30181632	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr6:30180647-30182600	GM12878	blood:	n/a	n/a
25	MAX	chr6:30180540-30182416	ECC-1	luminal epithelium:	n/a	chr6:30181938-30181948
26	E2F6	chr6:30181073-30182266	K562	blood:	n/a	chr6:30181418-30181426 chr6:30181418-30181425 chr6:30181418-30181429 chr6:30182075-30182085 chr6:30181418-30181426 chr6:30181418-30181429 chr6:30181415-30181432 chr6:30182017-30182027 chr6:30181933-30181942 chr6:30181418-30181429 chr6:30181415-30181432
27	POLR2A	chr6:30180768-30182312	GM12891	blood:	n/a	n/a
28	EP300	chr6:30180982-30182450	ECC-1	luminal epithelium:	n/a	chr6:30180990-30181006 chr6:30181363-30181377 chr6:30182078-30182087 chr6:30182017-30182033
29	CTCF	chr6:30181520-30181670	GM12865	blood:	n/a	n/a
30	RELA	chr6:30180716-30182511	GM15510	blood:	n/a	n/a
31	ZNF143	chr6:30180846-30182198	H1-hESC	embryonic stem cell:	n/a	chr6:30182170-30182180 chr6:30181978-30181996 chr6:30181336-30181346
32	BCLAF1	chr6:30180880-30181714	GM12878	blood:	n/a	chr6:30181368-30181377
33	EP300	chr6:30181003-30182089	GM12878	blood:	n/a	chr6:30181363-30181377 chr6:30182078-30182087 chr6:30182017-30182033
34	YY1	chr6:30180792-30182258	GM12892	blood:	n/a	chr6:30182080-30182089
35	CTCF	chr6:30181425-30181625	GM12878	blood:	n/a	n/a
36	CTCF	chr6:30181575-30181632	GM13977	blood:	n/a	n/a
37	POLR2A	chr6:30180707-30182590	HL-60	blood:	n/a	n/a
38	MAX	chr6:30180503-30182252	Hela-S3	cervix:	n/a	chr6:30181938-30181948
39	POLR2A	chr6:30180590-30182779	GM12878	blood:	n/a	n/a
40	MAX	chr6:30180696-30182482	HCT-116	colon:	n/a	chr6:30181938-30181948
41	POLR2A	chr6:30180653-30182387	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr6:30180991-30181772	HepG2	liver:	n/a	n/a
43	MXI1	chr6:30180760-30182505	HepG2	liver:	n/a	n/a
44	NFIC	chr6:30181468-30182266	GM12878	blood:	n/a	n/a
45	CTCF	chr6:30181540-30181690	NHLF	lung:	n/a	n/a
46	ELF1	chr6:30181592-30182309	SK-N-SH	brain:	n/a	chr6:30182080-30182089 chr6:30182119-30182128
47	POLR2A	chr6:30180887-30181627	HepG2	liver:	n/a	n/a
48	POLR2A	chr6:30179620-30182788	H1-hESC	embryonic stem cell:	n/a	n/a
49	YY1	chr6:30180817-30182258	HepG2	liver:	n/a	chr6:30182080-30182089
50	HDAC2	chr6:30180907-30181655	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30181600-30181650	NH-A	brain:	n/a
2	chr6:30181581-30181631	HNPCEpiC	eye:	n/a
3	chr6:30181600-30181650	SK-N-SH_RA	brain:	n/a
4	chr6:30181591-30181641	HRCEpiC	kidney:	n/a
5	chr6:30181591-30181641	ProgFib	skin:	n/a
6	chr6:30181591-30181641	GM12878	blood:	n/a
7	chr6:30181600-30181650	SKMC	muscle:	n/a
8	chr6:30181604-30181654	NHBE	bronchial:	n/a
9	chr6:30181600-30181650	HCM	heart:	n/a
10	chr6:30181600-30181650	HPAEpiC	pulmonary alveolar:	n/a
11	chr6:30181604-30181654	SK-N-SH	brain:	n/a
12	chr6:30181604-30181654	HRCEpiC	kidney:	n/a
13	chr6:30181600-30181650	PANC-1	pancreas:	n/a
14	chr6:30181591-30181641	ECC-1	luminal epithelium:	n/a
15	chr6:30181581-30181631	RPTEC	kidney:	n/a
16	chr6:30181581-30181631	HPAEpiC	pulmonary alveolar:	n/a
17	chr6:30181591-30181641	BJ	skin:	n/a
18	chr6:30181581-30181631	BE2_C	brain:	n/a
19	chr6:30181604-30181654	NH-A	brain:	n/a
20	chr6:30181604-30181654	AG04449	skin:	fetal
21	chr6:30181600-30181650	HepG2	liver:	n/a
22	chr6:30181581-30181631	K562	blood:	n/a
23	chr6:30181591-30181641	HCT-116	colon:	n/a
24	chr6:30181604-30181654	AG04450	lung:	fetal
25	chr6:30181600-30181650	AoSMC	blood vessel:	n/a
26	chr6:30181581-30181631	NT2-D1	testis:	n/a
27	chr6:30181591-30181641	HAEpiC	amniotic membrane:	n/a
28	chr6:30181600-30181650	ovcar-3	ovarian:	n/a
29	chr6:30181600-30181650	HL-60	blood:	n/a
30	chr6:30181604-30181654	ovcar-3	ovarian:	n/a
31	chr6:30181581-30181631	SAEC	small airway:	n/a
32	chr6:30181591-30181641	BE2_C	brain:	n/a
33	chr6:30181591-30181641	IMR90	lung:	fetal
34	chr6:30181600-30181650	MCF10A-Er-Src	breast:	n/a
35	chr6:30181600-30181650	GM06990	blood:	n/a
36	chr6:30181581-30181631	HCF	heart:	n/a
37	chr6:30181604-30181654	AG10803	skin:	n/a
38	chr6:30181591-30181641	HEEpiC	esophagus:	n/a
39	chr6:30181581-30181631	ovcar-3	ovarian:	n/a
40	chr6:30181604-30181654	GM06990	blood:	n/a
41	chr6:30181604-30181654	RPTEC	kidney:	n/a
42	chr6:30181581-30181631	LNCaP	prostate:	n/a
43	chr6:30181581-30181631	MCF-7	breast:	n/a
44	chr6:30181591-30181641	HNPCEpiC	eye:	n/a
45	chr6:30181581-30181631	AG04449	skin:	fetal
46	chr6:30181591-30181641	HL-60	blood:	n/a
47	chr6:30181604-30181654	PrEC	prostate:	n/a
48	chr6:30181591-30181641	HepG2	liver:	n/a
49	chr6:30181600-30181650	NB4	blood:	n/a
50	chr6:30181581-30181631	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30033185..30035212-chr6:30180473..30182741,2	MCF-7	breast:
2	chr6:30181151..30182089-chr9:130692947..130693639,2	Hela-S3	cervix:
3	chr6:30156337..30158600-chr6:30180750..30182606,2	MCF-7	breast:
4	chr6:30178310..30184484-chr6:30311860..30320436,13	MCF-7	breast:
5	chr6:30181004..30182231-chr7:27779467..27780336,3	Hela-S3	cervix:
6	chr15:75744964..75747465-chr6:30180922..30182722,2	MCF-7	breast:
7	chr1:145470229..145470740-chr6:30180852..30181642,2	Hela-S3	cervix:
8	chr6:30180733..30183619-chr6:30310467..30312981,3	MCF-7	breast:
9	chr6:30068684..30075353-chr6:30179679..30184952,7	MCF-7	breast:
10	chr6:30178635..30184988-chr6:30292357..30296104,9	MCF-7	breast:
11	chr6:30181485..30183400-chr6:30291563..30295527,5	MCF-7	breast:

Variant related genes	Relation type
TRIM26	TF binding region
TRIM26	CpG island
ENSG00000169375	Chromatin interaction
ENSG00000229893	Chromatin interaction
ENSG00000233892	Chromatin interaction
ENSG00000204616	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000167103	Chromatin interaction
ENSG00000106052	Chromatin interaction
ENSG00000231226	Chromatin interaction
ENSG00000224372	Chromatin interaction
ENSG00000121851	Chromatin interaction
ENSG00000234127	Chromatin interaction
ENSG00000241370	Chromatin interaction
ENSG00000181039	Chromatin interaction
ENSG00000204619	Chromatin interaction
ENSG00000270604	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs3094065	0.81[EUR][1000 genomes]
rs3094068	0.85[EUR][1000 genomes]
rs3094079	0.81[EUR][1000 genomes]
rs3094081	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094631	0.81[EUR][1000 genomes]
rs3094677	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3129834	0.81[EUR][1000 genomes]
rs3129838	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3130397	0.81[EUR][1000 genomes]
rs9261538	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261588	0.81[EUR][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30179400-30182400	Active TSS	Fetal Intestine Small	intestine
2	chr6:30179600-30182200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:30179600-30182400	Active TSS	Esophagus	oesophagus
4	chr6:30179800-30182200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:30179800-30182200	Active TSS	Colonic Mucosa	Colon
6	chr6:30179800-30182400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:30179800-30182400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:30179800-30182400	Active TSS	Aorta	Aorta
9	chr6:30179800-30182400	Active TSS	A549	lung
10	chr6:30179800-30182600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr6:30179800-30182600	Active TSS	Lung	lung
12	chr6:30180000-30181800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:30180000-30182200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:30180000-30182200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:30180000-30182200	Active TSS	Fetal Thymus	thymus
16	chr6:30180000-30182400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr6:30180000-30182400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:30180000-30182400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:30180000-30182400	Active TSS	Fetal Intestine Large	intestine
20	chr6:30180000-30182400	Active TSS	Right Ventricle	heart
21	chr6:30180000-30182600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr6:30180000-30182600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr6:30180000-30182600	Active TSS	Psoas Muscle	Psoas
24	chr6:30180000-30182600	Active TSS	Right Atrium	heart
25	chr6:30180200-30182000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:30180200-30182000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:30180200-30182200	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr6:30180200-30182200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr6:30180200-30182200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:30180200-30182400	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr6:30180200-30182400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:30180200-30182400	Active TSS	Brain Substantia Nigra	brain
33	chr6:30180200-30182400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr6:30180200-30182400	Active TSS	Stomach Mucosa	stomach
35	chr6:30180200-30182400	Active TSS	NHDF-Ad	bronchial
36	chr6:30180200-30182400	Active TSS	NHLF	lung
37	chr6:30180200-30182600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:30180200-30182600	Active TSS	Fetal Lung	lung
39	chr6:30180200-30182600	Active TSS	HSMMtube	muscle
40	chr6:30180200-30182800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:30180400-30181800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:30180400-30182000	Active TSS	Fetal Brain Female	brain
43	chr6:30180400-30182200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:30180400-30182200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:30180400-30182200	Active TSS	Brain Anterior Caudate	brain
46	chr6:30180400-30182200	Active TSS	Fetal Heart	heart
47	chr6:30180400-30182200	Active TSS	Rectal Smooth Muscle	rectum
48	chr6:30180400-30182400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr6:30180400-30182400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:30180400-30182400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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