Variant report

Variant	rs7766704
Chromosome Location	chr6:143268070-143268071
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	POLR2A	chr6:143265481-143268845	Hela-S3	cervix:	n/a	n/a
2	CHD1	chr6:143267499-143268438	H1-hESC	embryonic stem cell:	n/a	chr6:143267979-143267989 chr6:143267725-143267735 chr6:143268285-143268295
3	ZNF143	chr6:143266941-143268279	H1-hESC	embryonic stem cell:	n/a	chr6:143267660-143267678
4	RELA	chr6:143267464-143269260	GM18505	blood:	n/a	n/a
5	POLR2A	chr6:143264681-143268850	NB4	blood:	n/a	n/a
6	E2F6	chr6:143267793-143268421	H1-hESC	embryonic stem cell:	n/a	chr6:143268376-143268385
7	MAX	chr6:143266713-143268344	Hela-S3	cervix:	n/a	chr6:143267986-143267996
8	FOXM1	chr6:143266943-143268385	GM12878	blood:	n/a	n/a
9	TEAD4	chr6:143267302-143268196	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr6:143268005-143268911	GM10847	blood:	n/a	n/a
11	MAX	chr6:143267062-143269246	GM12878	blood:	n/a	chr6:143267986-143267996
12	POLR2A	chr6:143264900-143269271	GM18505	blood:	n/a	n/a
13	RCOR1	chr6:143264937-143269025	HepG2	liver:	n/a	n/a
14	ATF2	chr6:143267299-143269472	GM12878	blood:	n/a	chr6:143267566-143267580
15	MTA3	chr6:143267217-143268524	GM12878	blood:	n/a	n/a
16	EP300	chr6:143267347-143269059	HepG2	liver:	n/a	chr6:143268890-143268904 chr6:143267715-143267731 chr6:143267355-143267364
17	WRNIP1	chr6:143267746-143268422	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:143264910-143269253	GM12892	blood:	n/a	n/a
19	ATF2	chr6:143267338-143268249	H1-hESC	embryonic stem cell:	n/a	chr6:143267566-143267580
20	POLR2A	chr6:143267279-143268301	A549	lung:	n/a	n/a
21	POU2F2	chr6:143267411-143268987	GM12891	blood:	n/a	chr6:143267425-143267437 chr6:143267721-143267733 chr6:143268170-143268182 chr6:143268551-143268563
22	TCF12	chr6:143266922-143269222	ECC-1	luminal epithelium:	n/a	chr6:143267460-143267468 chr6:143267156-143267166
23	BACH1	chr6:143267528-143269174	H1-hESC	embryonic stem cell:	n/a	n/a
24	RUNX3	chr6:143265290-143269297	GM12878	blood:	n/a	n/a
25	POU2F2	chr6:143265374-143269044	GM12891	blood:	n/a	chr6:143267041-143267053 chr6:143267425-143267437 chr6:143265638-143265651 chr6:143267721-143267733 chr6:143268170-143268182 chr6:143266467-143266479 chr6:143266908-143266920 chr6:143268551-143268563 chr6:143265501-143265513
26	RELA	chr6:143267535-143269290	GM12878	blood:	n/a	n/a
27	E2F4	chr6:143267945-143268331	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:143264973-143269197	GM15510	blood:	n/a	n/a
29	PAX5	chr6:143268067-143268950	GM12892	blood:	n/a	chr6:143268100-143268109
30	TAF1	chr6:143268010-143268468	GM12878	blood:	n/a	n/a
31	RUNX3	chr6:143265307-143269332	GM12878	blood:	n/a	n/a
32	TBP	chr6:143265252-143269336	GM12878	blood:	n/a	n/a
33	MAX	chr6:143267897-143268458	ECC-1	luminal epithelium:	n/a	chr6:143267986-143267996
34	NFIC	chr6:143267277-143268454	ECC-1	luminal epithelium:	n/a	n/a
35	CHD2	chr6:143265226-143269187	GM12878	blood:	n/a	chr6:143267371-143267381 chr6:143266352-143266362 chr6:143267979-143267989 chr6:143267004-143267014 chr6:143267042-143267052 chr6:143267725-143267735 chr6:143265834-143265841 chr6:143268285-143268295
36	POLR2A	chr6:143264528-143269339	GM12878	blood:	n/a	n/a
37	ZBTB7A	chr6:143267926-143269064	ECC-1	luminal epithelium:	n/a	chr6:143267982-143267991
38	POLR2A	chr6:143265305-143269049	GM18526	blood:	n/a	n/a
39	POLR2A	chr6:143266969-143268413	H1-hESC	embryonic stem cell:	n/a	n/a
40	REST	chr6:143264762-143268793	H1-neurons	neurons:	n/a	chr6:143268619-143268629 chr6:143267976-143267989 chr6:143268232-143268250 chr6:143266976-143266986 chr6:143266523-143266533 chr6:143266707-143266721
41	TBL1XR1	chr6:143264757-143269247	GM12878	blood:	n/a	n/a
42	RCOR1	chr6:143267473-143269324	GM12878	blood:	n/a	n/a
43	EBF1	chr6:143267943-143268593	GM12878	blood:	n/a	n/a
44	SMC3	chr6:143267828-143268492	GM12878	blood:	n/a	n/a
45	POLR2A	chr6:143264569-143269376	GM12878	blood:	n/a	n/a
46	SMC3	chr6:143267402-143268348	Hela-S3	cervix:	n/a	n/a
47	MAX	chr6:143265244-143269002	A549	lung:	n/a	chr6:143266468-143266478 chr6:143265502-143265512 chr6:143267986-143267996 chr6:143265430-143265440
48	MAX	chr6:143266984-143268432	ECC-1	luminal epithelium:	n/a	chr6:143267986-143267996
49	CREB1	chr6:143265100-143269063	HepG2	liver:	n/a	n/a
50	ZNF143	chr6:143265095-143269284	GM12878	blood:	n/a	chr6:143267660-143267678 chr6:143265649-143265659 chr6:143268637-143268647

No.	Distal block	Cell Line	Cell type
1	chr6:143167088..143169502-chr6:143267608..143269824,2	MCF-7	breast:
2	chr17:56708877..56709444-chr6:143267554..143268195,2	HCT-116	colon:
3	chr6:143264696..143268807-chr6:143380557..143382998,8	MCF-7	breast:
4	chr6:143261291..143263976-chr6:143267791..143270142,2	K562	blood:
5	chr6:143267204..143268811-chr6:143547362..143549725,2	MCF-7	breast:
6	chr6:143266356..143269591-chr6:143770736..143773354,3	MCF-7	breast:
7	chr6:143266456..143269771-chr6:143270572..143274833,7	MCF-7	breast:
8	chr20:55771251..55773542-chr6:143266814..143269705,2	MCF-7	breast:
9	chr12:54752780..54753432-chr6:143267604..143268313,2	Hela-S3	cervix:
10	chr6:143266471..143269313-chr6:143346682..143349454,3	MCF-7	breast:

Variant related genes	Relation type
HIVEP2	TF binding region
ENSG00000232618	TF binding region
ENSG00000146416	Chromatin interaction
ENSG00000034693	Chromatin interaction
ENSG00000189007	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000223203	Chromatin interaction
ENSG00000232618	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs59123279	1.00[AMR][1000 genomes]
rs73588423	0.83[AMR][1000 genomes]
rs73588427	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7768273	0.83[AMR][1000 genomes]
rs9484678	1.00[AMR][1000 genomes]
rs9496484	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496485	0.92[AFR][1000 genomes];1.00[AMR][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	nsv538459	chr6:143165802-143360098	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143262600-143269400	Active TSS	Fetal Brain Female	brain
2	chr6:143263600-143269600	Active TSS	Thymus	Thymus
3	chr6:143263800-143269400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr6:143264200-143269200	Active TSS	GM12878-XiMat	blood
5	chr6:143264200-143269400	Active TSS	Psoas Muscle	Psoas
6	chr6:143264400-143269200	Active TSS	Rectal Smooth Muscle	rectum
7	chr6:143264600-143269200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:143264600-143269400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:143264600-143269600	Active TSS	Brain Angular Gyrus	brain
10	chr6:143264800-143268800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:143264800-143269000	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr6:143264800-143269200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr6:143264800-143269200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:143264800-143269400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr6:143264800-143269400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:143264800-143269400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr6:143264800-143269600	Active TSS	Brain Anterior Caudate	brain
18	chr6:143265000-143269000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:143265000-143269000	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr6:143265000-143269000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:143265000-143269000	Active TSS	Colon Smooth Muscle	Colon
22	chr6:143265000-143269000	Active TSS	HMEC	breast
23	chr6:143265000-143269200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:143265000-143269200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:143265000-143269200	Active TSS	Aorta	Aorta
26	chr6:143265000-143269200	Active TSS	Colonic Mucosa	Colon
27	chr6:143265000-143269200	Active TSS	Lung	lung
28	chr6:143265000-143269200	Active TSS	Ovary	ovary
29	chr6:143265000-143269200	Active TSS	Right Atrium	heart
30	chr6:143265000-143269400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:143265000-143269400	Active TSS	NHLF	lung
32	chr6:143265200-143268600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr6:143265200-143268800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:143265200-143268800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:143265200-143268800	Active TSS	Gastric	stomach
36	chr6:143265200-143268800	Active TSS	NHEK	skin
37	chr6:143265200-143269000	Active TSS	Small Intestine	intestine
38	chr6:143265200-143269200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr6:143265200-143269200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:143265200-143269200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:143265200-143269200	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr6:143265200-143269200	Active TSS	Brain Cingulate Gyrus	brain
43	chr6:143265200-143269200	Active TSS	Right Ventricle	heart
44	chr6:143265200-143269400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:143265400-143268200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:143265400-143268400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr6:143265400-143268800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:143265400-143268800	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr6:143265400-143268800	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr6:143265400-143268800	Active TSS	Primary T cells from cord blood	blood

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