Variant report

Variant	rs9644629
Chromosome Location	chr8:19369290-19369291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10105097	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10105464	0.83[ASN][1000 genomes]
rs10888165	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11204046	0.86[ASN][1000 genomes]
rs11204047	0.88[ASN][1000 genomes]
rs11204048	0.90[ASN][1000 genomes]
rs11204049	0.89[ASN][1000 genomes]
rs11204050	0.89[ASN][1000 genomes]
rs11204052	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11780475	0.97[ASN][1000 genomes]
rs11783263	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13261442	0.99[ASN][1000 genomes]
rs13261732	0.80[ASN][1000 genomes]
rs13265751	0.83[ASN][1000 genomes]
rs13266857	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13267265	0.84[ASN][1000 genomes]
rs13267569	0.84[ASN][1000 genomes]
rs13276417	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13280711	0.97[ASN][1000 genomes]
rs17128525	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17479777	0.86[ASN][1000 genomes]
rs28671342	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3923920	0.96[ASN][1000 genomes]
rs4073790	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4073791	0.97[ASN][1000 genomes]
rs4244453	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4273861	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4317590	0.96[ASN][1000 genomes]
rs4319111	0.85[ASN][1000 genomes]
rs4339658	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4413788	0.80[ASN][1000 genomes]
rs4442163	0.83[ASN][1000 genomes]
rs4455848	0.85[ASN][1000 genomes]
rs4483172	0.88[ASN][1000 genomes]
rs4484715	0.97[ASN][1000 genomes]
rs4513991	0.89[ASN][1000 genomes]
rs4554481	0.93[ASN][1000 genomes]
rs4599829	0.96[ASN][1000 genomes]
rs4614013	0.89[ASN][1000 genomes]
rs4631482	0.88[ASN][1000 genomes]
rs4631483	0.96[ASN][1000 genomes]
rs4921651	0.83[ASN][1000 genomes]
rs4921652	0.84[ASN][1000 genomes]
rs4921653	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4921654	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4921655	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4921656	0.94[ASN][1000 genomes]
rs4921657	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4922037	0.80[ASN][1000 genomes]
rs4922038	0.85[ASN][1000 genomes]
rs4922039	0.85[ASN][1000 genomes]
rs4922041	0.89[ASN][1000 genomes]
rs4922044	0.89[ASN][1000 genomes]
rs4922045	0.88[ASN][1000 genomes]
rs4922046	0.88[ASN][1000 genomes]
rs4922047	0.88[ASN][1000 genomes]
rs4922048	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4922049	0.88[ASN][1000 genomes]
rs6586839	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6586840	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6984644	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6988743	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991941	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6998334	0.90[ASN][1000 genomes]
rs6998991	0.85[ASN][1000 genomes]
rs6999542	0.89[ASN][1000 genomes]
rs7005075	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7017776	0.86[ASN][1000 genomes]
rs7460541	0.83[ASN][1000 genomes]
rs7464357	0.88[ASN][1000 genomes]
rs7464358	0.88[ASN][1000 genomes]
rs7816777	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7818691	0.89[ASN][1000 genomes]
rs7828197	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7830404	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9644628	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9644630	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9644631	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv890623	chr8:19307051-19383697	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19338800-19370600	Weak transcription	Esophagus	oesophagus
2	chr8:19348000-19376600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:19363000-19369600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:19363000-19372600	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr8:19363200-19372800	Weak transcription	Spleen	Spleen
6	chr8:19363200-19376600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:19364800-19376400	Weak transcription	Hela-S3	cervix
8	chr8:19365400-19372400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr8:19365800-19372400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:19366600-19370600	Enhancers	Fetal Lung	lung
11	chr8:19366600-19370800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr8:19366600-19372400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr8:19367000-19385000	Weak transcription	Ovary	ovary
14	chr8:19367200-19370800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:19367400-19370800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:19367600-19370600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:19367800-19370800	Enhancers	Right Atrium	heart
18	chr8:19368000-19369400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr8:19368200-19369600	Enhancers	Fetal Thymus	thymus
20	chr8:19368400-19369400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr8:19368400-19369400	Enhancers	Dnd41	blood
22	chr8:19368400-19369600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:19368400-19370000	Enhancers	Pancreas	Pancrea
24	chr8:19368400-19370600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:19368400-19371000	Enhancers	Left Ventricle	heart
26	chr8:19368400-19371200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:19368400-19372600	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:19368600-19369400	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:19368600-19370400	Weak transcription	Fetal Stomach	stomach
30	chr8:19368600-19370800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr8:19368600-19371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:19368800-19369600	Weak transcription	Right Ventricle	heart
33	chr8:19368800-19370200	Weak transcription	Brain Anterior Caudate	brain
34	chr8:19368800-19371400	Weak transcription	Thymus	Thymus
35	chr8:19368800-19372400	Enhancers	Primary T cells from cord blood	blood
36	chr8:19368800-19372600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:19368800-19372600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:19368800-19372600	Weak transcription	Placenta	Placenta
39	chr8:19368800-19372800	Weak transcription	Gastric	stomach
40	chr8:19369000-19369400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:19369000-19369800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:19369000-19370400	Weak transcription	Brain Angular Gyrus	brain
43	chr8:19369000-19370400	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:19369000-19370400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:19369000-19370600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr8:19369000-19370800	Strong transcription	A549	lung
47	chr8:19369000-19372400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:19369000-19372600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr8:19369000-19372600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:19369200-19369400	Enhancers	Primary B cells from cord blood	blood

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