Variant report

Variant	rs3761996
Chromosome Location	chr6:143381102-143381103
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	chr6:143380697-143382330	Hela-S3	cervix:	n/a	n/a
2	TCF12	chr6:143380596-143381333	SK-N-SH	brain:	n/a	n/a
3	FOXA1	chr6:143380772-143381177	HepG2	liver:	n/a	chr6:143381063-143381075
4	POLR2A	chr6:143380623-143383626	MCF10A-Er-Src	breast:	n/a	n/a
5	MAZ	chr6:143380531-143382414	HepG2	liver:	n/a	chr6:143382298-143382313
6	MAX	chr6:143380845-143382852	HepG2	liver:	n/a	chr6:143382298-143382313
7	POLR2A	chr6:143380693-143382299	HCT-116	colon:	n/a	n/a
8	GTF2F1	chr6:143380809-143382231	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr6:143380845-143382093	K562	blood:	n/a	n/a
10	TEAD4	chr6:143380747-143382690	K562	blood:	n/a	n/a
11	MYC	chr6:143380792-143383247	K562	blood:	n/a	chr6:143382871-143382880 chr6:143382298-143382313
12	RCOR1	chr6:143380958-143381896	GM12878	blood:	n/a	n/a
13	JUND	chr6:143380738-143382734	K562	blood:	n/a	chr6:143380886-143380897
14	HEY1	chr6:143380598-143383778	HepG2	liver:	n/a	chr6:143381879-143381894
15	CEBPB	chr6:143380845-143381229	ECC-1	luminal epithelium:	n/a	n/a
16	ARID3A	chr6:143380526-143383125	HepG2	liver:	n/a	n/a
17	MYBL2	chr6:143380732-143381913	HepG2	liver:	n/a	n/a
18	MAX	chr6:143380951-143382635	ECC-1	luminal epithelium:	n/a	chr6:143382298-143382313
19	MAX	chr6:143380756-143382659	HCT-116	colon:	n/a	chr6:143382298-143382313
20	FOXA2	chr6:143380756-143381180	HepG2	liver:	n/a	chr6:143381063-143381075
21	CUX1	chr6:143380783-143381841	K562	blood:	n/a	n/a
22	TBP	chr6:143380740-143383068	HepG2	liver:	n/a	n/a
23	TBL1XR1	chr6:143381076-143382239	K562	blood:	n/a	n/a
24	POLR2A	chr6:143380797-143383231	GM12891	blood:	n/a	n/a
25	MAFK	chr6:143380827-143381787	HepG2	liver:	n/a	n/a
26	RFX5	chr6:143380747-143382567	Hela-S3	cervix:	n/a	n/a
27	SP1	chr6:143380692-143382564	HCT-116	colon:	n/a	chr6:143381559-143381570 chr6:143381608-143381619 chr6:143382214-143382223 chr6:143382213-143382227 chr6:143382212-143382224
28	POLR2A	chr6:143380884-143382366	Hela-S3	cervix:	n/a	n/a
29	MYBL2	chr6:143380611-143383315	HepG2	liver:	n/a	n/a
30	TAF1	chr6:143380726-143381104	Hela-S3	cervix:	n/a	n/a
31	STAT3	chr6:143380744-143381253	MCF10A-Er-Src	breast:	n/a	n/a
32	FOXA1	chr6:143380741-143381156	HepG2	liver:	n/a	chr6:143381063-143381075
33	PBX3	chr6:143380704-143381757	SK-N-SH	brain:	n/a	chr6:143381385-143381394
34	TEAD4	chr6:143380825-143381937	K562	blood:	n/a	n/a
35	MAZ	chr6:143380853-143382247	GM12878	blood:	n/a	n/a
36	CREB1	chr6:143380641-143381235	HepG2	liver:	n/a	n/a
37	BRCA1	chr6:143380810-143381955	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr6:143381023-143382476	GM12878	blood:	n/a	n/a
39	CREB1	chr6:143380665-143382987	HepG2	liver:	n/a	n/a
40	MBD4	chr6:143380652-143381915	HepG2	liver:	n/a	n/a
41	CEBPB	chr6:143380841-143381208	MCF-7	breast:	n/a	n/a
42	POLR2A	chr6:143380245-143384281	HepG2	liver:	n/a	n/a
43	NR2F2	chr6:143380742-143382331	K562	blood:	n/a	n/a
44	POLR2A	chr6:143380720-143381184	HepG2	liver:	n/a	n/a
45	MAFK	chr6:143380841-143381498	K562	blood:	n/a	n/a
46	MAX	chr6:143380653-143382698	HCT-116	colon:	n/a	chr6:143382298-143382313
47	JUN	chr6:143380774-143381187	HepG2	liver:	n/a	n/a
48	CEBPB	chr6:143380802-143381281	MCF-7	breast:	n/a	n/a
49	STAT3	chr6:143380804-143381423	Hela-S3	cervix:	n/a	n/a
50	NFIC	chr6:143380630-143381279	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:143379898..143383638-chr6:143483833..143489108,8	K562	blood:
2	chr6:143264696..143268807-chr6:143380557..143382998,8	MCF-7	breast:
3	chr6:143380360..143383135-chr6:143419017..143422482,3	K562	blood:
4	chr15:25683930..25684560-chr6:143380846..143381416,2	Hela-S3	cervix:
5	chr6:143265912..143267606-chr6:143380498..143382671,2	MCF-7	breast:

Variant related genes	Relation type
AIG1	TF binding region
ENSG00000146416	Chromatin interaction
ENSG00000114062	Chromatin interaction
ENSG00000010818	Chromatin interaction
ENSG00000225752	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11155277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12662675	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12662882	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12663937	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12664681	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12664685	0.82[EUR][1000 genomes]
rs12665439	0.84[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs12665506	0.82[MEX][hapmap]
rs1334477	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1334478	0.86[CHB][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs1334480	0.83[CHB][hapmap]
rs17590726	0.86[CHB][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs17590859	0.82[MEX][hapmap]
rs1855559	0.86[ASN][1000 genomes]
rs1855560	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1889462	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2142936	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2876540	0.96[EUR][1000 genomes]
rs2876541	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35073854	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35569003	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3789782	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs3804526	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs3804527	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs3804528	0.82[MEX][hapmap]
rs3804531	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs3811093	0.87[ASN][1000 genomes]
rs3827797	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs4896614	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4896615	0.82[EUR][1000 genomes]
rs4896617	0.89[ASN][1000 genomes]
rs59463222	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59873234	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59974378	0.82[EUR][1000 genomes]
rs6570545	0.89[ASN][1000 genomes]
rs6900049	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs6902732	0.89[ASN][1000 genomes]
rs6905621	0.85[CHB][hapmap]
rs6906195	0.82[ASN][1000 genomes]
rs6906414	0.89[ASN][1000 genomes]
rs6910423	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs6910964	0.83[JPT][hapmap]
rs6914857	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs6938207	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs73777857	0.82[EUR][1000 genomes]
rs7738387	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs7743474	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7750571	0.84[ASW][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7760119	0.82[MEX][hapmap]
rs7774011	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs7775419	0.82[EUR][1000 genomes]
rs7775912	0.81[CHB][hapmap]
rs9321887	0.91[CHB][hapmap];0.80[CHD][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9321888	0.91[CHB][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9321889	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9386021	0.82[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs9390046	0.87[ASN][1000 genomes]
rs9399416	0.91[CHB][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9399419	0.82[ASN][1000 genomes]
rs9403430	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9403432	0.86[ASN][1000 genomes]
rs9496521	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs989325	1.00[MEX][hapmap]

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143375200-143381200	Weak transcription	Aorta	Aorta
2	chr6:143380200-143381200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:143380200-143381200	Flanking Active TSS	HepG2	liver
4	chr6:143380200-143381400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:143380200-143381400	Flanking Active TSS	NHEK	skin
6	chr6:143380400-143381200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:143380400-143381200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr6:143380400-143381400	Active TSS	Fetal Muscle Trunk	muscle
9	chr6:143380400-143382200	Active TSS	Right Ventricle	heart
10	chr6:143380400-143382800	Active TSS	Brain Angular Gyrus	brain
11	chr6:143380400-143383000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:143380600-143381200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:143380600-143381200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr6:143380600-143381200	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr6:143380600-143381200	Active TSS	HMEC	breast
16	chr6:143380600-143381400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:143380600-143381400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr6:143380600-143381400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr6:143380600-143381400	Flanking Active TSS	Osteobl	bone
20	chr6:143380600-143381600	Flanking Active TSS	Dnd41	blood
21	chr6:143380600-143382400	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr6:143380600-143382600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:143380600-143382800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr6:143380600-143382800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr6:143380600-143383200	Active TSS	Liver	Liver
26	chr6:143380800-143381200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:143380800-143381200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
28	chr6:143380800-143381200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr6:143380800-143381200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr6:143380800-143381200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr6:143380800-143381200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr6:143380800-143381200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr6:143380800-143381200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:143380800-143381200	Enhancers	Primary B cells from peripheral blood	blood
35	chr6:143380800-143381200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr6:143380800-143381200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr6:143380800-143381200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr6:143380800-143381200	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr6:143380800-143381200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:143380800-143381200	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr6:143380800-143381200	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr6:143380800-143381200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr6:143380800-143381200	Enhancers	Fetal Heart	heart
44	chr6:143380800-143381200	Flanking Active TSS	Fetal Lung	lung
45	chr6:143380800-143381200	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr6:143380800-143381200	Enhancers	Gastric	stomach
47	chr6:143380800-143381200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr6:143380800-143381200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr6:143380800-143381200	Enhancers	Stomach Mucosa	stomach
50	chr6:143380800-143381200	Flanking Active TSS	A549	lung

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