Variant report

Variant	rs6441094
Chromosome Location	chr3:156387375-156387376
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	CTCF	chr3:156387260-156387410	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:156364332..156366414-chr3:156385028..156387855,2	MCF-7	breast:
2	chr3:156377877..156380030-chr3:156386212..156388367,2	MCF-7	breast:
3	chr3:156384119..156388903-chr3:156389462..156394403,8	MCF-7	breast:
4	chr3:156318948..156323685-chr3:156384396..156387913,5	K562	blood:

Variant related genes	Relation type
TIPARP	TF binding region
ENSG00000163659	Chromatin interaction
ENSG00000243926	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs11710516	0.83[EUR][1000 genomes]
rs11926558	0.85[AMR][1000 genomes]
rs13073605	0.85[AMR][1000 genomes]
rs1355280	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1397194	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1397195	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1510269	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1510270	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs168245	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs168295	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs180746	0.83[EUR][1000 genomes]
rs180747	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs182935	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs182936	0.83[EUR][1000 genomes]
rs184677	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1858229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs186928	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs193423	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2054881	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2129909	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2136691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2136692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs237245	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs237246	0.83[EUR][1000 genomes]
rs343991	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs343995	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs343996	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs343997	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs343998	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344000	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344001	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344005	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs344006	0.96[EUR][1000 genomes]
rs344009	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs344010	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs344011	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs344012	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs344013	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs344014	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs344015	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs344016	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344017	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344023	0.83[EUR][1000 genomes]
rs344029	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344032	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs344047	0.83[EUR][1000 genomes]
rs344048	0.83[EUR][1000 genomes]
rs344049	0.83[EUR][1000 genomes]
rs344050	0.83[EUR][1000 genomes]
rs344052	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344053	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344054	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344055	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344058	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344059	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs344060	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344061	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344062	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344063	0.83[AMR][1000 genomes]
rs344064	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344065	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344066	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344068	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344069	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs344070	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs345987	0.83[AMR][1000 genomes]
rs419287	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs427384	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4429586	0.84[EUR][1000 genomes]
rs4679784	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4680296	0.85[AMR][1000 genomes]
rs4680297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4680298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4680299	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5012666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6441088	0.85[AMR][1000 genomes]
rs6441089	1.00[AMR][1000 genomes]
rs6441092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6441093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6441095	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6799457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7636366	0.85[AMR][1000 genomes]
rs7640593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs871232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs871233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs907063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs931990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs978108	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs978109	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9823112	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9833951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9841047	0.85[AMR][1000 genomes]
rs985854	0.85[AMR][1000 genomes]
rs9877043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156382400-156388000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:156382600-156391600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:156383000-156391400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr3:156383200-156388000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr3:156383600-156387800	Weak transcription	HUVEC	blood vessel
6	chr3:156383600-156390600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:156384200-156391400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:156384200-156391400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:156385600-156390600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr3:156386200-156391600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:156386400-156390800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:156386400-156391200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr3:156386400-156391200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:156386400-156391200	Weak transcription	NHEK	skin
15	chr3:156386400-156391400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:156386400-156391400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr3:156386400-156391400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:156386400-156391400	Weak transcription	Fetal Intestine Small	intestine
19	chr3:156386400-156391600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr3:156386400-156391600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:156386400-156391600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr3:156386600-156388600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:156386600-156389200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr3:156386600-156390600	Weak transcription	HepG2	liver
25	chr3:156386600-156391200	Weak transcription	Liver	Liver
26	chr3:156386600-156391400	Weak transcription	Primary T cells from cord blood	blood
27	chr3:156386600-156391400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr3:156386600-156391400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:156386600-156391400	Weak transcription	A549	lung
30	chr3:156386600-156391400	Weak transcription	HMEC	breast
31	chr3:156386600-156391600	Weak transcription	Fetal Lung	lung
32	chr3:156386800-156387400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:156386800-156387800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:156386800-156391200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:156386800-156391200	Weak transcription	GM12878-XiMat	blood
36	chr3:156386800-156391200	Weak transcription	K562	blood
37	chr3:156386800-156391600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:156386800-156391600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:156386800-156391600	Weak transcription	Fetal Intestine Large	intestine
40	chr3:156386800-156391600	Weak transcription	NHLF	lung
41	chr3:156387000-156387800	Weak transcription	Stomach Mucosa	stomach
42	chr3:156387000-156391000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:156387000-156391200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr3:156387000-156391200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:156387000-156391200	Weak transcription	Hela-S3	cervix
46	chr3:156387000-156391400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:156387000-156391400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr3:156387000-156391400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr3:156387000-156391600	Weak transcription	NHDF-Ad	bronchial
50	chr3:156387200-156387400	Enhancers	Small Intestine	intestine

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