Variant report

Variant	rs28756749
Chromosome Location	chr8:120815404-120815405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120814901..120817854-chr8:120818185..120821075,2	K562	blood:

Extended variants
information (count: 152 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10087723	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10088232	0.82[ASN][1000 genomes]
rs10095282	0.86[ASN][1000 genomes]
rs10096486	0.88[ASN][1000 genomes]
rs10096846	0.92[ASN][1000 genomes]
rs10101278	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10102038	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10103886	0.87[ASN][1000 genomes]
rs10109513	0.88[ASN][1000 genomes]
rs10109718	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10109808	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109901	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10109951	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10110061	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10110601	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10113252	0.89[ASN][1000 genomes]
rs10113562	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505374	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1055131	0.83[ASN][1000 genomes]
rs1055133	0.83[ASN][1000 genomes]
rs11985300	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11989053	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12155707	0.88[ASN][1000 genomes]
rs12542706	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12543087	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12545479	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12707876	0.89[ASN][1000 genomes]
rs12707880	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13252708	0.87[ASN][1000 genomes]
rs13253139	0.87[ASN][1000 genomes]
rs13255420	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13255850	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13257002	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13258336	0.84[ASN][1000 genomes]
rs13261032	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13262434	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13268676	0.88[ASN][1000 genomes]
rs13270831	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13272852	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs14027	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1433951	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1433952	0.87[ASN][1000 genomes]
rs1433953	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1469755	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1509348	0.87[ASN][1000 genomes]
rs1567358	0.87[ASN][1000 genomes]
rs1567359	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16893025	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16893027	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16893071	0.89[ASN][1000 genomes]
rs16893077	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16893101	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16893104	0.91[ASN][1000 genomes]
rs16893109	0.91[ASN][1000 genomes]
rs16893113	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16893140	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1960438	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1976575	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2043430	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2043431	0.89[ASN][1000 genomes]
rs2048239	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2063282	0.92[ASN][1000 genomes]
rs2136374	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2136375	0.82[ASN][1000 genomes]
rs2289011	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2326377	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2326378	0.92[ASN][1000 genomes]
rs2634	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28421406	0.91[ASN][1000 genomes]
rs28486048	0.84[ASN][1000 genomes]
rs28486074	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28576821	0.91[ASN][1000 genomes]
rs28634937	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28665481	0.91[ASN][1000 genomes]
rs28711081	0.86[ASN][1000 genomes]
rs28715681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28736344	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34070855	0.87[ASN][1000 genomes]
rs34718068	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35019302	0.85[ASN][1000 genomes]
rs35103910	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35449013	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35496588	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35521072	0.87[ASN][1000 genomes]
rs35660840	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35679846	0.81[EUR][1000 genomes]
rs35954443	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3812463	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4870955	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870956	0.87[ASN][1000 genomes]
rs4871578	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871595	0.87[ASN][1000 genomes]
rs4871599	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871629	0.90[ASN][1000 genomes]
rs4871634	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871640	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871642	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871648	0.87[ASN][1000 genomes]
rs4871659	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62526565	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6469841	0.88[ASN][1000 genomes]
rs6469846	0.90[ASN][1000 genomes]
rs6469849	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6469852	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6469853	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6469854	0.85[ASN][1000 genomes]
rs67905698	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983932	0.85[ASN][1000 genomes]
rs6989559	0.84[ASN][1000 genomes]
rs6989791	0.88[ASN][1000 genomes]
rs6992109	0.83[ASN][1000 genomes]
rs6992632	0.86[ASN][1000 genomes]
rs6994604	0.91[ASN][1000 genomes]
rs6996250	0.87[ASN][1000 genomes]
rs6997976	0.88[ASN][1000 genomes]
rs6998058	0.81[ASN][1000 genomes]
rs7005200	0.86[ASN][1000 genomes]
rs7009073	0.94[ASN][1000 genomes]
rs7011974	0.92[ASN][1000 genomes]
rs7012791	0.85[ASN][1000 genomes]
rs7012857	0.87[ASN][1000 genomes]
rs7017010	0.88[ASN][1000 genomes]
rs7017045	0.90[ASN][1000 genomes]
rs7017279	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7813438	0.90[ASN][1000 genomes]
rs7813651	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7813680	0.82[ASN][1000 genomes]
rs7821501	0.88[ASN][1000 genomes]
rs7825803	0.87[ASN][1000 genomes]
rs7827482	0.87[ASN][1000 genomes]
rs7829198	0.81[ASN][1000 genomes]
rs7829390	0.82[ASN][1000 genomes]
rs7832755	0.82[ASN][1000 genomes]
rs7833112	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7833490	0.88[ASN][1000 genomes]
rs7837213	0.91[ASN][1000 genomes]
rs7837589	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839110	0.89[ASN][1000 genomes]
rs7843304	0.94[ASN][1000 genomes]
rs9297603	0.85[ASN][1000 genomes]
rs9297604	0.89[ASN][1000 genomes]
rs9297605	0.82[ASN][1000 genomes]
rs9693207	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	esv3481251	chr8:120800778-120823850	Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3481253	chr8:120800792-120823847	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:120781200-120829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:120791000-120833200	Weak transcription	Fetal Heart	heart
5	chr8:120800200-120821800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:120801800-120830400	Weak transcription	NHEK	skin
7	chr8:120802600-120818200	Weak transcription	Small Intestine	intestine
8	chr8:120804800-120824200	Weak transcription	Stomach Mucosa	stomach
9	chr8:120805200-120841400	Weak transcription	Gastric	stomach
10	chr8:120805200-120843000	Weak transcription	Psoas Muscle	Psoas
11	chr8:120806600-120836800	Weak transcription	Esophagus	oesophagus
12	chr8:120808000-120830200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:120812000-120821800	Strong transcription	Liver	Liver
14	chr8:120812600-120818600	Strong transcription	Left Ventricle	heart
15	chr8:120812600-120823000	Strong transcription	Adipose Nuclei	Adipose
16	chr8:120812600-120833000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:120812800-120816600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:120812800-120817200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:120812800-120817200	Strong transcription	Brain Hippocampus Middle	brain
20	chr8:120812800-120817600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:120812800-120817600	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:120812800-120817800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:120812800-120818000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:120812800-120818400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:120812800-120818600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:120812800-120818600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:120812800-120818600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:120812800-120818600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr8:120812800-120818800	Strong transcription	Fetal Intestine Large	intestine
30	chr8:120812800-120819000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:120812800-120819400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:120812800-120819800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:120812800-120820200	Strong transcription	Fetal Stomach	stomach
34	chr8:120812800-120820800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr8:120812800-120821400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:120812800-120822000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr8:120812800-120822600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:120812800-120822800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:120812800-120822800	Strong transcription	HSMM	muscle
40	chr8:120812800-120823000	Strong transcription	Primary T cells from cord blood	blood
41	chr8:120812800-120823200	Strong transcription	Fetal Thymus	thymus
42	chr8:120812800-120826600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:120812800-120834200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:120812800-120835000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr8:120812800-120835400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr8:120812800-120837600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr8:120812800-120842800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr8:120812800-120843600	Strong transcription	Placenta	Placenta
49	chr8:120813000-120816000	Weak transcription	Fetal Kidney	kidney
50	chr8:120813200-120816600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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