Variant report

Variant	rs3811093
Chromosome Location	chr6:143381712-143381713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:464)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:143381680-143381830	GM12864	blood:	n/a	chr6:143381735-143381748
2	POLR2A	chr6:143381339-143382424	GM12878	blood:	n/a	n/a
3	MAX	chr6:143381270-143381939	ECC-1	luminal epithelium:	n/a	n/a
4	CTCF	chr6:143381660-143381810	AG09319	gingival:	n/a	chr6:143381735-143381748
5	RFX5	chr6:143381666-143381777	K562	blood:	n/a	n/a
6	SIN3AK20	chr6:143381292-143381906	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr6:143381600-143381750	GM12867	blood:	n/a	chr6:143381653-143381671 chr6:143381735-143381748
8	CTCF	chr6:143381661-143381782	ProgFib	skin:	n/a	chr6:143381735-143381748
9	CEBPB	chr6:143381235-143381908	K562	blood:	n/a	n/a
10	POLR2A	chr6:143380697-143382330	Hela-S3	cervix:	n/a	n/a
11	ELF1	chr6:143381306-143382024	GM12878	blood:	n/a	n/a
12	CTCF	chr6:143381680-143381830	HepG2	liver:	n/a	chr6:143381735-143381748
13	HDAC2	chr6:143381416-143381881	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:143381700-143381850	BE2_C	brain:	n/a	chr6:143381735-143381748
15	SIN3AK20	chr6:143381371-143382211	HepG2	liver:	n/a	n/a
16	RAD21	chr6:143381648-143381781	K562	blood:	n/a	n/a
17	E2F6	chr6:143381255-143382507	K562	blood:	n/a	chr6:143381560-143381572
18	CTCF	chr6:143381640-143381790	HPF	lung:	n/a	chr6:143381653-143381671 chr6:143381735-143381748
19	POLR2A	chr6:143380623-143383626	MCF10A-Er-Src	breast:	n/a	n/a
20	CTCF	chr6:143381676-143381785	GM10248	blood:	n/a	chr6:143381735-143381748
21	CHD2	chr6:143381316-143383009	HepG2	liver:	n/a	chr6:143382223-143382233
22	SIN3AK20	chr6:143381244-143382223	PANC-1	pancreas:	n/a	n/a
23	MAZ	chr6:143380531-143382414	HepG2	liver:	n/a	chr6:143382298-143382313
24	POLR2A	chr6:143381347-143381920	HepG2	liver:	n/a	n/a
25	YY1	chr6:143381354-143382385	K562	blood:	n/a	n/a
26	ZNF143	chr6:143381367-143382170	GM12878	blood:	n/a	n/a
27	CTCF	chr6:143381680-143381830	AG09319	gingival:	n/a	chr6:143381735-143381748
28	MAX	chr6:143380845-143382852	HepG2	liver:	n/a	chr6:143382298-143382313
29	TAF1	chr6:143381370-143382435	HepG2	liver:	n/a	n/a
30	BCLAF1	chr6:143381315-143381895	GM12878	blood:	n/a	chr6:143381820-143381833
31	POLR2A	chr6:143381302-143382257	HUVEC	blood vessel:	n/a	n/a
32	RAD21	chr6:143381305-143381874	Hela-S3	cervix:	n/a	chr6:143381500-143381513
33	POLR2A	chr6:143380693-143382299	HCT-116	colon:	n/a	n/a
34	TCF7L2	chr6:143381366-143382517	HCT-116	colon:	n/a	n/a
35	GTF2F1	chr6:143380809-143382231	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr6:143381426-143382692	HepG2	liver:	n/a	n/a
37	E2F6	chr6:143381337-143381909	K562	blood:	n/a	chr6:143381560-143381572
38	CEBPB	chr6:143380845-143382093	K562	blood:	n/a	n/a
39	CREB1	chr6:143381137-143382583	H1-hESC	embryonic stem cell:	n/a	n/a
40	TCF7L2	chr6:143381369-143381788	Hela-S3	cervix:	n/a	n/a
41	EP300	chr6:143381555-143381915	H1-hESC	embryonic stem cell:	n/a	n/a
42	TEAD4	chr6:143380747-143382690	K562	blood:	n/a	n/a
43	MYC	chr6:143380792-143383247	K562	blood:	n/a	chr6:143382871-143382880 chr6:143382298-143382313
44	JUND	chr6:143381320-143381826	HepG2	liver:	n/a	n/a
45	CTCF	chr6:143381580-143381730	HUVEC	blood vessel:	n/a	chr6:143381653-143381671
46	E2F1	chr6:143381493-143382227	Hela-S3	cervix:	n/a	chr6:143381560-143381572 chr6:143382028-143382039
47	RCOR1	chr6:143380958-143381896	GM12878	blood:	n/a	n/a
48	HEY1	chr6:143381259-143381915	HepG2	liver:	n/a	chr6:143381879-143381894
49	POLR2A	chr6:143381339-143382519	HL-60	blood:	n/a	n/a
50	JUND	chr6:143380738-143382734	K562	blood:	n/a	chr6:143380886-143380897

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:143381675-143381725	NHBE	bronchial:	n/a
2	chr6:143381675-143381725	IMR90	lung:	fetal
3	chr6:143381675-143381725	CMK	blood:	n/a
4	chr6:143381675-143381725	HCF	heart:	n/a
5	chr6:143381675-143381725	MCF-7	breast:	n/a
6	chr6:143381675-143381725	SKMC	muscle:	n/a
7	chr6:143381675-143381725	GM06990	blood:	n/a
8	chr6:143381675-143381725	Hela-S3	cervix:	n/a
9	chr6:143381675-143381725	T-47D	breast:	n/a
10	chr6:143381675-143381725	PANC-1	pancreas:	n/a
11	chr6:143381675-143381725	BE2_C	brain:	n/a
12	chr6:143381675-143381725	GM19239	blood:	n/a
13	chr6:143381675-143381725	HPAEpiC	pulmonary alveolar:	n/a
14	chr6:143381675-143381725	Caco-2	colon:	n/a
15	chr6:143381675-143381725	HRE	kidney:	n/a
16	chr6:143381675-143381725	HRPEpiC	eye:	n/a
17	chr6:143381675-143381725	HMEC	breast:	n/a
18	chr6:143381675-143381725	HEEpiC	esophagus:	n/a
19	chr6:143381675-143381725	SK-N-SH_RA	brain:	n/a
20	chr6:143381675-143381725	NHDF-neo	bronchial:	n/a
21	chr6:143381675-143381725	HEK293	kidney:	embryo
22	chr6:143381675-143381725	AG10803	skin:	n/a
23	chr6:143381675-143381725	BJ	skin:	n/a
24	chr6:143381675-143381725	ProgFib	skin:	n/a
25	chr6:143381675-143381725	ovcar-3	ovarian:	n/a
26	chr6:143381675-143381725	NH-A	brain:	n/a
27	chr6:143381675-143381725	AG04449	skin:	fetal
28	chr6:143381675-143381725	SK-N-MC	brain:	n/a
29	chr6:143381675-143381725	Hepatocyte	liver:	n/a
30	chr6:143381675-143381725	HL-60	blood:	n/a
31	chr6:143381675-143381725	AoSMC	blood vessel:	n/a
32	chr6:143381675-143381725	NB4	blood:	n/a
33	chr6:143381675-143381725	PrEC	prostate:	n/a
34	chr6:143381675-143381725	HAEpiC	amniotic membrane:	n/a
35	chr6:143381675-143381725	HRCEpiC	kidney:	n/a
36	chr6:143381675-143381725	SAEC	small airway:	n/a
37	chr6:143381675-143381725	LNCaP	prostate:	n/a
38	chr6:143381675-143381725	HIPEpiC	eye:	n/a
39	chr6:143381675-143381725	RPTEC	kidney:	n/a
40	chr6:143381675-143381725	ECC-1	luminal epithelium:	n/a
41	chr6:143381675-143381725	U87	brain:	n/a
42	chr6:143381675-143381725	A549	lung:	n/a
43	chr6:143381675-143381725	NT2-D1	testis:	n/a
44	chr6:143381675-143381725	AG09319	gingival:	n/a
45	chr6:143381675-143381725	GM12878	blood:	n/a
46	chr6:143381675-143381725	PFSK-1	brain:	n/a
47	chr6:143381675-143381725	AG04450	lung:	fetal
48	chr6:143381675-143381725	H1-hESC	embryonic stem cell:	embryo
49	chr6:143381675-143381725	K562	blood:	n/a
50	chr6:143381675-143381725	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:143381342..143383522-chr6:143831139..143832827,2	K562	blood:
2	chr6:143379898..143383638-chr6:143483833..143489108,8	K562	blood:
3	chr6:143264696..143268807-chr6:143380557..143382998,8	MCF-7	breast:
4	chr6:143381314..143382842-chr6:143831327..143834058,3	K562	blood:
5	chr6:143380360..143383135-chr6:143419017..143422482,3	K562	blood:
6	chr6:143381113..143383323-chr6:143484337..143488491,4	K562	blood:
7	chr6:143265912..143267606-chr6:143380498..143382671,2	MCF-7	breast:

No data

Variant related genes	Relation type
AIG1	TF binding region
AIG1	CpG island
ENSG00000010818	Chromatin interaction
ENSG00000146416	Chromatin interaction
ENSG00000225752	Chromatin interaction
ENSG00000001036	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11155277	0.86[ASN][1000 genomes]
rs12664685	0.83[ASN][1000 genomes]
rs1334478	0.83[ASN][1000 genomes]
rs17590726	0.82[ASN][1000 genomes]
rs1855559	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1855560	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1889462	0.87[ASN][1000 genomes]
rs2142936	0.93[ASN][1000 genomes]
rs3761996	0.87[ASN][1000 genomes]
rs3789782	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3804526	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3804527	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3827797	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4896614	0.96[ASN][1000 genomes]
rs4896615	0.83[ASN][1000 genomes]
rs4896617	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4896618	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59974378	0.80[ASN][1000 genomes]
rs6570545	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6902732	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6906414	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6938207	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73777857	0.83[ASN][1000 genomes]
rs7774011	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7775419	0.82[ASN][1000 genomes]
rs9321887	0.93[ASN][1000 genomes]
rs9321888	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9321889	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9390046	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9399416	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9403430	0.94[ASN][1000 genomes]
rs9403432	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143380400-143382200	Active TSS	Right Ventricle	heart
2	chr6:143380400-143382800	Active TSS	Brain Angular Gyrus	brain
3	chr6:143380400-143383000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:143380600-143382400	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr6:143380600-143382600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:143380600-143382800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr6:143380600-143382800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:143380600-143383200	Active TSS	Liver	Liver
9	chr6:143380800-143382200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:143380800-143382200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:143380800-143382200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:143380800-143382200	Active TSS	Left Ventricle	heart
13	chr6:143380800-143382200	Active TSS	Psoas Muscle	Psoas
14	chr6:143380800-143382200	Active TSS	HSMM	muscle
15	chr6:143380800-143382400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:143380800-143382800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr6:143380800-143382800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:143380800-143383000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:143380800-143383000	Active TSS	Rectal Smooth Muscle	rectum
20	chr6:143381000-143382200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:143381000-143382200	Active TSS	Colonic Mucosa	Colon
22	chr6:143381000-143382200	Active TSS	Fetal Brain Male	brain
23	chr6:143381000-143382200	Active TSS	Placenta	Placenta
24	chr6:143381000-143382200	Active TSS	Thymus	Thymus
25	chr6:143381000-143382400	Active TSS	Fetal Stomach	stomach
26	chr6:143381000-143382400	Active TSS	Ovary	ovary
27	chr6:143381000-143382400	Active TSS	Stomach Smooth Muscle	stomach
28	chr6:143381000-143382400	Active TSS	Hela-S3	cervix
29	chr6:143381000-143382400	Active TSS	HSMMtube	muscle
30	chr6:143381000-143382600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:143381000-143382600	Active TSS	Fetal Intestine Small	intestine
32	chr6:143381000-143382800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:143381000-143382800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:143381000-143382800	Active TSS	Brain Germinal Matrix	brain
35	chr6:143381000-143382800	Active TSS	Fetal Intestine Large	intestine
36	chr6:143381200-143381800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:143381200-143382200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:143381200-143382200	Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr6:143381200-143382200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr6:143381200-143382200	Active TSS	Duodenum Mucosa	Duodenum
41	chr6:143381200-143382200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr6:143381200-143382200	Active TSS	Esophagus	oesophagus
43	chr6:143381200-143382200	Active TSS	Fetal Muscle Leg	muscle
44	chr6:143381200-143382200	Active TSS	Pancreas	Pancrea
45	chr6:143381200-143382200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr6:143381200-143382200	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr6:143381200-143382200	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr6:143381200-143382400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:143381200-143382400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:143381200-143382400	Active TSS	Brain Cingulate Gyrus	brain

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