Variant report

Variant	rs4743968
Chromosome Location	chr9:97588695-97588696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97580961..97582572-chr9:97587930..97589947,2	MCF-7	breast:
2	chr9:97580692..97583696-chr9:97588466..97591730,4	MCF-7	breast:
3	chr9:97562492..97588737-chr9:97670126..97691056,102	MCF-7	breast:
4	chr9:97572097..97590438-chr9:97672990..97690806,63	MCF-7	breast:
5	chr9:97586655..97589155-chr9:97630334..97631988,2	MCF-7	breast:
6	chr9:97587607..97589933-chr9:97767549..97770278,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10217441	0.85[EUR][1000 genomes]
rs10732407	0.85[EUR][1000 genomes]
rs10733756	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10739988	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739990	0.85[EUR][1000 genomes]
rs10761360	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10761363	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10821407	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10821411	0.85[EUR][1000 genomes]
rs10993386	0.85[EUR][1000 genomes]
rs12553916	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1382411	0.83[AFR][1000 genomes]
rs1382412	0.83[AFR][1000 genomes]
rs1530331	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1542108	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17355875	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs191654	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2099868	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165715	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242260	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2584805	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675168	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs356125	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356128	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356132	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356133	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356136	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356139	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356145	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356147	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356148	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356149	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs365465	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs367319	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3887267	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3910730	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs397783	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs397806	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41316526	0.83[AFR][1000 genomes]
rs422502	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4332191	0.85[EUR][1000 genomes]
rs438742	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs448899	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs456276	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs457795	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4612413	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4743970	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743972	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4743973	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4744382	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744387	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4744388	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744402	0.81[AFR][1000 genomes]
rs555799	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56198429	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs562605	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56317174	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58281499	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60120	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60553517	0.87[AFR][1000 genomes]
rs61086657	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6479569	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6479575	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479576	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6479577	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479578	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479579	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6479581	0.85[EUR][1000 genomes]
rs6479582	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6479583	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs66495734	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66642068	0.83[AFR][1000 genomes]
rs66710673	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66863985	0.83[AFR][1000 genomes]
rs67208365	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68090960	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68091393	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7019602	0.85[EUR][1000 genomes]
rs7022963	0.85[EUR][1000 genomes]
rs7025100	0.85[EUR][1000 genomes]
rs7025934	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7026714	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7035166	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7038519	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7038891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7044371	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7047478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72747019	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7341710	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532355	0.87[AFR][1000 genomes]
rs73536067	0.87[AFR][1000 genomes]
rs73536074	0.87[AFR][1000 genomes]
rs73538177	0.83[AFR][1000 genomes]
rs7855781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7867856	0.85[EUR][1000 genomes]
rs7870679	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs894426	0.85[EUR][1000 genomes]
rs894428	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9409589	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9409805	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][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	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97563600-97594400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr9:97564000-97589200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr9:97567400-97593400	Weak transcription	Thymus	Thymus
4	chr9:97568600-97589000	Weak transcription	Liver	Liver
5	chr9:97569200-97589000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:97569400-97589600	Weak transcription	Fetal Thymus	thymus
7	chr9:97570000-97594400	Weak transcription	Dnd41	blood
8	chr9:97570000-97601400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:97570400-97590400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr9:97571800-97622600	Weak transcription	Primary B cells from cord blood	blood
11	chr9:97572000-97601600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr9:97572600-97593600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr9:97574200-97590000	Weak transcription	Fetal Intestine Large	intestine
14	chr9:97580400-97590600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr9:97580600-97600200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr9:97581800-97591800	Weak transcription	Small Intestine	intestine
17	chr9:97581800-97609600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:97582000-97599400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:97582200-97594000	Weak transcription	NHEK	skin
20	chr9:97583800-97590200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr9:97584000-97590400	Enhancers	Brain Hippocampus Middle	brain
22	chr9:97584200-97593800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:97584800-97589200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:97584800-97589400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:97584800-97589400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr9:97584800-97591600	Weak transcription	GM12878-XiMat	blood
27	chr9:97585000-97609600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:97585200-97589200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:97586000-97591600	Weak transcription	Hela-S3	cervix
30	chr9:97586200-97589600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:97586600-97588800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr9:97586600-97590200	Enhancers	Brain Angular Gyrus	brain
33	chr9:97586800-97589200	Enhancers	Aorta	Aorta
34	chr9:97587200-97589200	Enhancers	Psoas Muscle	Psoas
35	chr9:97587200-97589400	Enhancers	Right Atrium	heart
36	chr9:97587200-97589600	Enhancers	Placenta	Placenta
37	chr9:97587200-97589600	Genic enhancers	HSMM	muscle
38	chr9:97587400-97590200	Enhancers	Colonic Mucosa	Colon
39	chr9:97587400-97590600	Enhancers	Ovary	ovary
40	chr9:97587600-97588800	Enhancers	Brain Germinal Matrix	brain
41	chr9:97587600-97589000	Genic enhancers	HepG2	liver
42	chr9:97587600-97589400	Active TSS	Rectal Smooth Muscle	rectum
43	chr9:97587800-97588800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr9:97587800-97588800	Enhancers	A549	lung
45	chr9:97587800-97589000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr9:97587800-97589000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr9:97587800-97589600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
48	chr9:97587800-97589800	Weak transcription	Fetal Heart	heart
49	chr9:97587800-97590000	Weak transcription	NH-A	brain
50	chr9:97587800-97590400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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