Variant report

Variant	rs7002734
Chromosome Location	chr8:66942971-66942972
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66860378..66862946-chr8:66940064..66944249,3	MCF-7	breast:
2	chr8:66933795..66936922-chr8:66937756..66943533,5	K562	blood:
3	chr8:66750304..66757030-chr8:66936519..66946979,24	MCF-7	breast:
4	chr8:66743264..66756293-chr8:66938648..66949139,49	MCF-7	breast:
5	chr8:66928177..66937337-chr8:66937383..66943347,17	MCF-7	breast:
6	chr8:66939130..66942548-chr8:66942805..66946877,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272192	Chromatin interaction
ENSG00000147570	Chromatin interaction
ENSG00000205268	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10092435	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10097206	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10097560	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10098417	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10104877	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11988360	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11995587	0.92[EUR][1000 genomes]
rs11995702	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11995704	0.91[EUR][1000 genomes]
rs11997658	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12114319	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16932411	0.92[EUR][1000 genomes]
rs2357566	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2357568	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2357569	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2357577	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2357579	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2357657	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2357663	0.83[EUR][1000 genomes]
rs2357666	0.81[EUR][1000 genomes]
rs28402886	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28605672	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2884235	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4262311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4317552	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4355757	0.92[EUR][1000 genomes]
rs4380924	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4637811	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55861240	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55864718	0.92[EUR][1000 genomes]
rs60020249	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60520895	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60667481	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6472241	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6472242	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6982577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6983945	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6985149	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6989099	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6989850	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6990209	0.83[EUR][1000 genomes]
rs6992002	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6996761	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7003160	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7006789	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7010113	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7010679	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7017618	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7465415	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7812954	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7821284	0.82[EUR][1000 genomes]
rs9694378	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9918852	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66933800-66944400	Weak transcription	Pancreas	Pancrea
2	chr8:66934000-66943800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:66934000-66944400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:66935400-66945800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:66938600-66943000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:66938600-66945800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr8:66938600-66946400	Enhancers	Fetal Thymus	thymus
8	chr8:66938600-66946600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr8:66938600-66946800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr8:66938800-66945400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr8:66938800-66945600	Enhancers	Primary B cells from peripheral blood	blood
12	chr8:66938800-66946400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:66939000-66944400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:66939200-66944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:66939200-66944400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:66939600-66944000	Weak transcription	NHDF-Ad	bronchial
17	chr8:66939600-66944400	Weak transcription	NHLF	lung
18	chr8:66939600-66952800	Weak transcription	Psoas Muscle	Psoas
19	chr8:66940000-66944800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:66940000-66945000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:66940000-66945200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:66940200-66943600	Enhancers	Primary B cells from cord blood	blood
23	chr8:66940200-66946000	Enhancers	Thymus	Thymus
24	chr8:66940400-66944600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:66940400-66945400	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:66940600-66944400	Weak transcription	Hela-S3	cervix
27	chr8:66940800-66943200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr8:66940800-66944000	Weak transcription	A549	lung
29	chr8:66941000-66943800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:66941000-66944600	Weak transcription	Placenta	Placenta
31	chr8:66941000-66945400	Weak transcription	Dnd41	blood
32	chr8:66941400-66944200	Enhancers	Primary T cells from cord blood	blood
33	chr8:66941400-66944400	Weak transcription	Esophagus	oesophagus
34	chr8:66941400-66945200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr8:66941600-66944200	Weak transcription	HMEC	breast
36	chr8:66941600-66944400	Weak transcription	Lung	lung
37	chr8:66941800-66944000	Weak transcription	NHEK	skin
38	chr8:66941800-66944400	Weak transcription	Spleen	Spleen
39	chr8:66941800-66945400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr8:66942000-66948200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:66942200-66943800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:66942200-66944400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr8:66942200-66944400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:66942200-66944400	Weak transcription	Small Intestine	intestine
45	chr8:66942400-66944400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:66942400-66944400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:66942400-66944400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:66942400-66944400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr8:66942600-66944400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:66942800-66943800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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