Variant report

Variant	rs10949863
Chromosome Location	chr7:63506445-63506446
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10238001	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10238781	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10250989	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10257979	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10282465	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1036611	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10807673	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10807674	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10949865	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10949866	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769287	0.96[EUR][1000 genomes]
rs11979814	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12668280	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13227194	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1347879	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1439144	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1439145	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1439147	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1807031	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1814044	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1821956	0.83[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1837333	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1898827	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1946853	0.83[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1946854	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2011824	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2018295	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2278573	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2278574	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2861504	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4467830	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4621679	0.83[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4717163	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4717966	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4717967	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4717969	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460105	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460106	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6460107	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6949981	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6957535	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6959038	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6959059	0.99[EUR][1000 genomes]
rs6959359	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6973547	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6973557	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6973779	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6975985	0.83[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs6979758	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7779829	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7783518	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7793587	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7810753	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs981084	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888255	chr7:63175168-63990100	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv888258	chr7:63294907-63537173	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv534361	chr7:63328472-63955286	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv888259	chr7:63363001-64009193	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	esv3365963	chr7:63367092-63587809	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	esv3496812	chr7:63367459-63649196	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	esv3496813	chr7:63367459-63649196	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	esv3336155	chr7:63368772-63650552	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv464514	chr7:63383123-63847894	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
10	nsv607304	chr7:63383123-63847894	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
11	nsv888260	chr7:63389550-63565953	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1016151	chr7:63420068-63704289	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv1019447	chr7:63420068-63766444	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
14	nsv1016466	chr7:63438466-63969492	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	nsv888263	chr7:63464342-63565953	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv3378509	chr7:63482728-63739475	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv607305	chr7:63502629-63783386	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63504400-63507400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr7:63504600-63507000	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr7:63504800-63507600	Active TSS	Brain Anterior Caudate	brain
4	chr7:63505200-63506800	Active TSS	Colon Smooth Muscle	Colon
5	chr7:63505200-63507000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr7:63505200-63507400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:63505400-63506600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
8	chr7:63505400-63506800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:63505400-63506800	Active TSS	Aorta	Aorta
10	chr7:63505400-63506800	Active TSS	Brain Angular Gyrus	brain
11	chr7:63505400-63507000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr7:63505400-63507000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr7:63505400-63507000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr7:63505400-63507200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr7:63505400-63507200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr7:63505400-63507200	Active TSS	Right Atrium	heart
17	chr7:63505600-63506600	Active TSS	Primary B cells from peripheral blood	blood
18	chr7:63505600-63506800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:63505600-63506800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:63505600-63506800	Active TSS	Pancreas	Pancrea
21	chr7:63505600-63506800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr7:63505600-63507000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:63505600-63507000	Active TSS	Brain Hippocampus Middle	brain
24	chr7:63505600-63507000	Active TSS	Brain Substantia Nigra	brain
25	chr7:63505600-63507000	Active TSS	Rectal Smooth Muscle	rectum
26	chr7:63505600-63507200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:63505600-63507200	Active TSS	Brain Cingulate Gyrus	brain
28	chr7:63505600-63507200	Active TSS	Ovary	ovary
29	chr7:63505600-63507400	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr7:63505800-63506600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:63505800-63506600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr7:63505800-63506600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr7:63505800-63506600	Active TSS	Psoas Muscle	Psoas
34	chr7:63505800-63506800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:63505800-63507000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:63505800-63507200	Active TSS	Stomach Smooth Muscle	stomach
37	chr7:63506000-63506800	Active TSS	Left Ventricle	heart
38	chr7:63506200-63506600	Active TSS	Esophagus	oesophagus
39	chr7:63506200-63506800	Active TSS	Lung	lung
40	chr7:63506200-63507200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:63506400-63507200	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr7:63506400-63507200	Flanking Active TSS	Dnd41	blood

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