Variant report

Variant	rs17194614
Chromosome Location	chr6:30181399-30181400
allele	A/C
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	POLR2A	chr6:30180595-30182425	PANC-1	pancreas:	n/a	n/a
3	SIN3AK20	chr6:30180838-30181538	HepG2	liver:	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	TAF1	chr6:30180528-30181508	ECC-1	luminal epithelium:	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	STAT3	chr6:30181249-30181465	GM12878	blood:	n/a	chr6:30181362-30181373
12	SIN3AK20	chr6:30180641-30181445	SK-N-SH	brain:	n/a	n/a
13	TCF12	chr6:30180945-30181528	GM12878	blood:	n/a	chr6:30181345-30181355
14	YY1	chr6:30181262-30182253	SK-N-SH	brain:	n/a	chr6:30182080-30182089
15	NFYB	chr6:30180780-30181652	GM12878	blood:	n/a	chr6:30181272-30181286
16	TEAD4	chr6:30181001-30181768	ECC-1	luminal epithelium:	n/a	n/a
17	RFX5	chr6:30180770-30182256	HepG2	liver:	n/a	n/a
18	EBF1	chr6:30181159-30182099	GM12878	blood:	n/a	n/a
19	PAX5	chr6:30180902-30181516	GM12892	blood:	n/a	chr6:30181368-30181377
20	PAX5	chr6:30180958-30181576	GM12878	blood:	n/a	chr6:30181368-30181377
21	POLR2A	chr6:30181297-30181435	A549	lung:	n/a	n/a
22	ELF1	chr6:30180706-30182437	HCT-116	colon:	n/a	chr6:30182080-30182089 chr6:30182119-30182128
23	HEY1	chr6:30180902-30182414	HepG2	liver:	n/a	n/a
24	HA-E2F1	chr6:30180967-30181555	Hela-S3	cervix:	n/a	chr6:30181418-30181426 chr6:30180996-30181006 chr6:30181418-30181425 chr6:30181418-30181429 chr6:30181418-30181426 chr6:30181418-30181429 chr6:30181415-30181432 chr6:30181418-30181429 chr6:30181415-30181432
25	POLR2A	chr6:30180625-30182700	GM12892	blood:	n/a	n/a
26	POLR2A	chr6:30180868-30182424	HepG2	liver:	n/a	n/a
27	NFYA	chr6:30181098-30181490	K562	blood:	n/a	chr6:30181272-30181286
28	WRNIP1	chr6:30181327-30181875	GM12878	blood:	n/a	n/a
29	GTF2F1	chr6:30180995-30182229	H1-hESC	embryonic stem cell:	n/a	n/a
30	NFIC	chr6:30180813-30181459	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:30180599-30181632	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr6:30180647-30182600	GM12878	blood:	n/a	n/a
33	MAX	chr6:30180540-30182416	ECC-1	luminal epithelium:	n/a	chr6:30181938-30181948
34	ZNF143	chr6:30181078-30181510	GM12878	blood:	n/a	chr6:30181336-30181346
35	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
36	POLR2A	chr6:30180768-30182312	GM12891	blood:	n/a	n/a
37	TAF1	chr6:30180921-30181434	SK-N-SH	brain:	n/a	n/a
38	EP300	chr6:30180982-30182450	ECC-1	luminal epithelium:	n/a	chr6:30180990-30181006 chr6:30181363-30181377 chr6:30182078-30182087 chr6:30182017-30182033
39	PAX5	chr6:30181006-30181524	GM12891	blood:	n/a	chr6:30181368-30181377
40	RELA	chr6:30180716-30182511	GM15510	blood:	n/a	n/a
41	ZNF143	chr6:30180846-30182198	H1-hESC	embryonic stem cell:	n/a	chr6:30182170-30182180 chr6:30181978-30181996 chr6:30181336-30181346
42	BCLAF1	chr6:30180880-30181714	GM12878	blood:	n/a	chr6:30181368-30181377
43	EP300	chr6:30181003-30182089	GM12878	blood:	n/a	chr6:30181363-30181377 chr6:30182078-30182087 chr6:30182017-30182033
44	YY1	chr6:30180792-30182258	GM12892	blood:	n/a	chr6:30182080-30182089
45	YY1	chr6:30180980-30181547	SK-N-SH_RA	brain:	n/a	n/a
46	SMC3	chr6:30181058-30181454	Hela-S3	cervix:	n/a	n/a
47	IRF1	chr6:30181245-30181470	K562	blood:	n/a	chr6:30181360-30181380 chr6:30181364-30181378 chr6:30181365-30181379 chr6:30181361-30181374 chr6:30181362-30181376 chr6:30181354-30181374 chr6:30181366-30181379 chr6:30181361-30181375 chr6:30181365-30181382 chr6:30181359-30181376 chr6:30181368-30181378 chr6:30181360-30181374
48	POLR2A	chr6:30180707-30182590	HL-60	blood:	n/a	n/a
49	MAX	chr6:30180503-30182252	Hela-S3	cervix:	n/a	chr6:30181938-30181948
50	POLR2A	chr6:30180590-30182779	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30181383-30181433	HL-60	blood:	n/a
2	chr6:30181383-30181433	HUVEC	blood vessel:	n/a
3	chr6:30181383-30181433	SK-N-SH_RA	brain:	n/a
4	chr6:30181383-30181433	AoSMC	blood vessel:	n/a
5	chr6:30181383-30181433	LNCaP	prostate:	n/a
6	chr6:30181383-30181433	MCF-7	breast:	n/a
7	chr6:30181383-30181433	SKMC	muscle:	n/a
8	chr6:30181383-30181433	SK-N-MC	brain:	n/a
9	chr6:30181383-30181433	Caco-2	colon:	n/a
10	chr6:30181383-30181433	ECC-1	luminal epithelium:	n/a
11	chr6:30181383-30181433	HIPEpiC	eye:	n/a
12	chr6:30181383-30181433	HCF	heart:	n/a
13	chr6:30181383-30181433	MCF10A-Er-Src	breast:	n/a
14	chr6:30181383-30181433	PrEC	prostate:	n/a
15	chr6:30181383-30181433	HepG2	liver:	n/a
16	chr6:30181383-30181433	HEK293	kidney:	embryo
17	chr6:30181383-30181433	RPTEC	kidney:	n/a
18	chr6:30181383-30181433	GM12878	blood:	n/a
19	chr6:30181383-30181433	HRE	kidney:	n/a
20	chr6:30181383-30181433	NB4	blood:	n/a
21	chr6:30181383-30181433	PANC-1	pancreas:	n/a
22	chr6:30181383-30181433	HCT-116	colon:	n/a
23	chr6:30181383-30181433	NH-A	brain:	n/a
24	chr6:30181383-30181433	A549	lung:	n/a
25	chr6:30181383-30181433	BJ	skin:	n/a
26	chr6:30181383-30181433	BE2_C	brain:	n/a
27	chr6:30181383-30181433	T-47D	breast:	n/a
28	chr6:30181383-30181433	NHBE	bronchial:	n/a
29	chr6:30181383-30181433	HMEC	breast:	n/a
30	chr6:30181383-30181433	HAEpiC	amniotic membrane:	n/a
31	chr6:30181383-30181433	HEEpiC	esophagus:	n/a
32	chr6:30181383-30181433	SAEC	small airway:	n/a
33	chr6:30181383-30181433	K562	blood:	n/a
34	chr6:30181383-30181433	NHDF-neo	bronchial:	n/a
35	chr6:30181383-30181433	AG04449	skin:	fetal
36	chr6:30181383-30181433	HCM	heart:	n/a
37	chr6:30181383-30181433	AG09319	gingival:	n/a
38	chr6:30181383-30181433	Hela-S3	cervix:	n/a
39	chr6:30181383-30181433	Hepatocyte	liver:	n/a
40	chr6:30181383-30181433	ProgFib	skin:	n/a
41	chr6:30181383-30181433	HRCEpiC	kidney:	n/a
42	chr6:30181383-30181433	HNPCEpiC	eye:	n/a
43	chr6:30181383-30181433	SK-N-SH	brain:	n/a
44	chr6:30181383-30181433	ovcar-3	ovarian:	n/a
45	chr6:30181383-30181433	GM12891	blood:	n/a
46	chr6:30181383-30181433	U87	brain:	n/a
47	chr6:30181383-30181433	AG04450	lung:	fetal
48	chr6:30181383-30181433	GM19239	blood:	n/a
49	chr6:30181383-30181433	CMK	blood:	n/a
50	chr6:30181383-30181433	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr6:30180933..30181555-chr9:95526315..95527180,2	Hela-S3	cervix:
2	chr6:30033185..30035212-chr6:30180473..30182741,2	MCF-7	breast:
3	chr6:30179664..30181618-chr6:30294020..30296167,2	K562	blood:
4	chr6:30181151..30182089-chr9:130692947..130693639,2	Hela-S3	cervix:
5	chr6:30156337..30158600-chr6:30180750..30182606,2	MCF-7	breast:
6	chr6:30178310..30184484-chr6:30311860..30320436,13	MCF-7	breast:
7	chr6:30181004..30182231-chr7:27779467..27780336,3	Hela-S3	cervix:
8	chr15:75744964..75747465-chr6:30180922..30182722,2	MCF-7	breast:
9	chr13:50159263..50159994-chr6:30180805..30181444,2	NB4	blood:
10	chr1:145470229..145470740-chr6:30180852..30181642,2	Hela-S3	cervix:
11	chr11:63952885..63953627-chr6:30180687..30181425,2	Hela-S3	cervix:
12	chr6:30180733..30183619-chr6:30310467..30312981,3	MCF-7	breast:
13	chr6:30068684..30075353-chr6:30179679..30184952,7	MCF-7	breast:
14	chr6:30178635..30184988-chr6:30292357..30296104,9	MCF-7	breast:
15	chr17:40975942..40976460-chr6:30180781..30181513,2	Hela-S3	cervix:
16	chr6:30180894..30181541-chrX:119005284..119005883,2	Hela-S3	cervix:

Variant related genes	Relation type
TRIM26	TF binding region
TRIM26	CpG island
ENSG00000181039	Chromatin interaction
ENSG00000231226	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000185963	Chromatin interaction
ENSG00000229893	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000106052	Chromatin interaction
ENSG00000125352	Chromatin interaction
ENSG00000233892	Chromatin interaction
ENSG00000224372	Chromatin interaction
ENSG00000241370	Chromatin interaction
ENSG00000270604	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000136144	Chromatin interaction
ENSG00000125356	Chromatin interaction
ENSG00000204619	Chromatin interaction
ENSG00000234127	Chromatin interaction
ENSG00000167103	Chromatin interaction
ENSG00000131467	Chromatin interaction
ENSG00000121851	Chromatin interaction
ENSG00000126581	Chromatin interaction
ENSG00000204616	Chromatin interaction
ENSG00000168439	Chromatin interaction

rs_ID	r²[population]
rs9468701	0.83[AFR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30179400-30181400	Active TSS	GM12878-XiMat	blood
2	chr6:30179400-30182400	Active TSS	Fetal Intestine Small	intestine
3	chr6:30179600-30181400	Active TSS	Fetal Muscle Leg	muscle
4	chr6:30179600-30182200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:30179600-30182400	Active TSS	Esophagus	oesophagus
6	chr6:30179800-30182200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:30179800-30182200	Active TSS	Colonic Mucosa	Colon
8	chr6:30179800-30182400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:30179800-30182400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:30179800-30182400	Active TSS	Aorta	Aorta
11	chr6:30179800-30182400	Active TSS	A549	lung
12	chr6:30179800-30182600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr6:30179800-30182600	Active TSS	Lung	lung
14	chr6:30180000-30181400	Active TSS	Primary T cells fromperipheralblood	blood
15	chr6:30180000-30181400	Active TSS	HMEC	breast
16	chr6:30180000-30181600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:30180000-30181800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:30180000-30182200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:30180000-30182200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:30180000-30182200	Active TSS	Fetal Thymus	thymus
21	chr6:30180000-30182400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr6:30180000-30182400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr6:30180000-30182400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:30180000-30182400	Active TSS	Fetal Intestine Large	intestine
25	chr6:30180000-30182400	Active TSS	Right Ventricle	heart
26	chr6:30180000-30182600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr6:30180000-30182600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr6:30180000-30182600	Active TSS	Psoas Muscle	Psoas
29	chr6:30180000-30182600	Active TSS	Right Atrium	heart
30	chr6:30180200-30181400	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr6:30180200-30181400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:30180200-30181400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:30180200-30181400	Active TSS	Stomach Smooth Muscle	stomach
34	chr6:30180200-30181400	Bivalent/Poised TSS	HepG2	liver
35	chr6:30180200-30181400	Active TSS	NH-A	brain
36	chr6:30180200-30181400	Active TSS	NHEK	skin
37	chr6:30180200-30182000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:30180200-30182000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:30180200-30182200	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr6:30180200-30182200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr6:30180200-30182200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:30180200-30182400	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr6:30180200-30182400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:30180200-30182400	Active TSS	Brain Substantia Nigra	brain
45	chr6:30180200-30182400	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr6:30180200-30182400	Active TSS	Stomach Mucosa	stomach
47	chr6:30180200-30182400	Active TSS	NHDF-Ad	bronchial
48	chr6:30180200-30182400	Active TSS	NHLF	lung
49	chr6:30180200-30182600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:30180200-30182600	Active TSS	Fetal Lung	lung

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