Variant report

Variant	rs28736344
Chromosome Location	chr8:120852992-120852993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120843828..120846589-chr8:120852079..120853867,2	K562	blood:
2	chr8:120847721..120850147-chr8:120852543..120855750,4	K562	blood:
3	chr8:120843795..120849237-chr8:120850670..120854947,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064313	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10087723	0.88[EUR][1000 genomes]
rs10096486	0.82[ASN][1000 genomes]
rs10096846	0.81[ASN][1000 genomes]
rs10101278	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10102038	0.86[EUR][1000 genomes]
rs10108071	0.80[ASN][1000 genomes]
rs10109513	0.82[ASN][1000 genomes]
rs10109718	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10109808	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10109901	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10109951	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10110061	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10110601	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10113252	0.82[ASN][1000 genomes]
rs10113562	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10505374	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1055130	0.82[ASN][1000 genomes]
rs1055131	0.90[ASN][1000 genomes]
rs1055133	0.90[ASN][1000 genomes]
rs11985300	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11989053	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12155707	0.84[ASN][1000 genomes]
rs12542706	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12543087	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12545479	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12707880	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13255420	0.88[EUR][1000 genomes]
rs13255850	0.86[EUR][1000 genomes]
rs13257002	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13258336	0.88[ASN][1000 genomes]
rs13261032	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13262434	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13268676	0.82[ASN][1000 genomes]
rs13270831	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13272214	0.90[ASN][1000 genomes]
rs13272852	0.88[EUR][1000 genomes]
rs14027	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1433951	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1433952	0.80[ASN][1000 genomes]
rs1433953	0.86[EUR][1000 genomes]
rs1469755	0.89[EUR][1000 genomes]
rs1509348	0.80[ASN][1000 genomes]
rs1567358	0.80[ASN][1000 genomes]
rs1567359	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16893025	0.85[EUR][1000 genomes]
rs16893027	0.85[EUR][1000 genomes]
rs16893077	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16893101	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16893109	0.81[ASN][1000 genomes]
rs16893113	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16893140	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1960438	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1960439	0.88[ASN][1000 genomes]
rs1976575	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2043430	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2048239	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2063282	0.81[ASN][1000 genomes]
rs2136374	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2289011	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2326377	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2326378	0.81[ASN][1000 genomes]
rs2634	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28486048	0.87[ASN][1000 genomes]
rs28486074	0.89[EUR][1000 genomes]
rs28634937	0.89[EUR][1000 genomes]
rs28715681	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28756749	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34718068	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35019302	0.81[ASN][1000 genomes]
rs35103910	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35148850	0.82[ASN][1000 genomes]
rs35449013	0.93[EUR][1000 genomes]
rs35496588	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35660840	0.86[EUR][1000 genomes]
rs35954443	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3812463	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870955	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4870956	0.86[ASN][1000 genomes]
rs4871578	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871595	0.80[ASN][1000 genomes]
rs4871599	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4871629	0.83[ASN][1000 genomes]
rs4871634	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871640	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4871642	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4871648	0.86[ASN][1000 genomes]
rs4871659	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871660	0.89[ASN][1000 genomes]
rs62526565	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6469846	0.83[ASN][1000 genomes]
rs6469849	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469852	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469853	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6469854	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67905698	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6983932	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6989559	0.88[ASN][1000 genomes]
rs6989791	0.84[ASN][1000 genomes]
rs6992109	0.90[ASN][1000 genomes]
rs6996250	0.86[ASN][1000 genomes]
rs7001182	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7009073	0.83[ASN][1000 genomes]
rs7011974	0.81[ASN][1000 genomes]
rs7012857	0.83[ASN][1000 genomes]
rs7017010	0.82[ASN][1000 genomes]
rs7017045	0.83[ASN][1000 genomes]
rs7017279	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7813438	0.83[ASN][1000 genomes]
rs7813651	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7813680	0.90[ASN][1000 genomes]
rs7821501	0.82[ASN][1000 genomes]
rs7827482	0.86[ASN][1000 genomes]
rs7833112	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833490	0.84[ASN][1000 genomes]
rs7833706	0.82[ASN][1000 genomes]
rs7837589	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7839110	0.82[ASN][1000 genomes]
rs7843304	0.83[ASN][1000 genomes]
rs9693207	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120845600-120853200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:120845600-120865600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:120845600-120867400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:120845800-120855200	Weak transcription	NH-A	brain
5	chr8:120846000-120855000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:120846000-120867200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:120846200-120854200	Weak transcription	Psoas Muscle	Psoas
8	chr8:120846200-120854600	Weak transcription	Spleen	Spleen
9	chr8:120846200-120855400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:120846200-120856000	Weak transcription	Left Ventricle	heart
11	chr8:120846200-120857000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:120846200-120857200	Strong transcription	Fetal Thymus	thymus
13	chr8:120846200-120859400	Weak transcription	Lung	lung
14	chr8:120846200-120865600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:120846200-120865600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:120846200-120865800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:120846200-120866000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:120846200-120867000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:120846200-120867000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:120846200-120867000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr8:120846200-120867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:120846200-120867000	Weak transcription	Osteobl	bone
23	chr8:120846200-120867200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:120846200-120867200	Weak transcription	Right Ventricle	heart
25	chr8:120846200-120867400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:120846200-120867600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:120846200-120867600	Weak transcription	Gastric	stomach
28	chr8:120846200-120867600	Weak transcription	Pancreas	Pancrea
29	chr8:120846400-120856800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:120846400-120857000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:120846400-120861200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:120846400-120866800	Weak transcription	Primary B cells from cord blood	blood
33	chr8:120846400-120867000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:120846400-120867200	Weak transcription	Liver	Liver
35	chr8:120846600-120854600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:120846600-120854800	Weak transcription	NHDF-Ad	bronchial
37	chr8:120846600-120866000	Weak transcription	HepG2	liver
38	chr8:120846600-120867000	Weak transcription	Primary T cells from cord blood	blood
39	chr8:120846800-120866400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:120847400-120854200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:120847400-120867000	Weak transcription	HSMM	muscle
42	chr8:120847600-120857000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:120847800-120854200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:120847800-120855000	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr8:120847800-120855000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:120847800-120858600	Weak transcription	Fetal Intestine Small	intestine
47	chr8:120847800-120861200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr8:120847800-120863000	Strong transcription	Dnd41	blood
49	chr8:120848000-120853600	Strong transcription	Fetal Muscle Leg	muscle
50	chr8:120848000-120855000	Strong transcription	Fetal Muscle Trunk	muscle

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