Variant report

Variant	rs4922037
Chromosome Location	chr8:19339703-19339704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10105097	0.80[ASN][1000 genomes]
rs10503653	0.88[ASN][1000 genomes]
rs10888165	0.82[ASN][1000 genomes]
rs11204044	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11204045	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11204046	0.91[ASN][1000 genomes]
rs11204047	0.92[ASN][1000 genomes]
rs11204048	0.89[ASN][1000 genomes]
rs11204049	0.91[ASN][1000 genomes]
rs11204050	0.91[ASN][1000 genomes]
rs11777566	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11778734	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11780475	0.80[ASN][1000 genomes]
rs13265751	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13267265	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13267569	0.96[ASN][1000 genomes]
rs13280711	0.80[ASN][1000 genomes]
rs17479777	0.91[ASN][1000 genomes]
rs3923920	0.82[ASN][1000 genomes]
rs4073790	0.80[ASN][1000 genomes]
rs4073791	0.80[ASN][1000 genomes]
rs4244451	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4244452	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4244453	0.82[ASN][1000 genomes]
rs4311666	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4317590	0.82[ASN][1000 genomes]
rs4319111	0.84[ASN][1000 genomes]
rs4339658	0.80[ASN][1000 genomes]
rs4413788	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4442162	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4442163	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4455848	0.90[ASN][1000 genomes]
rs4483172	0.92[ASN][1000 genomes]
rs4484715	0.80[ASN][1000 genomes]
rs4513991	0.91[ASN][1000 genomes]
rs4524812	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4540423	0.81[EUR][1000 genomes]
rs4599829	0.82[ASN][1000 genomes]
rs4614013	0.91[ASN][1000 genomes]
rs4631482	0.92[ASN][1000 genomes]
rs4631483	0.82[ASN][1000 genomes]
rs4921646	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4921647	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4921648	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4921649	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4921651	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4921652	0.93[ASN][1000 genomes]
rs4921653	0.82[ASN][1000 genomes]
rs4921654	0.82[ASN][1000 genomes]
rs4921657	0.80[ASN][1000 genomes]
rs4922034	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4922038	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4922039	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4922041	0.91[ASN][1000 genomes]
rs4922044	0.91[ASN][1000 genomes]
rs4922045	0.92[ASN][1000 genomes]
rs4922046	0.92[ASN][1000 genomes]
rs4922047	0.92[ASN][1000 genomes]
rs4922048	0.82[ASN][1000 genomes]
rs4922049	0.89[ASN][1000 genomes]
rs5013219	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6586836	0.86[ASN][1000 genomes]
rs6586837	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6586838	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6988743	0.80[ASN][1000 genomes]
rs6991941	0.82[ASN][1000 genomes]
rs6994352	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6998334	0.89[ASN][1000 genomes]
rs6998991	0.87[ASN][1000 genomes]
rs6999542	0.91[ASN][1000 genomes]
rs7002357	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7017776	0.91[ASN][1000 genomes]
rs7460541	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7464357	0.92[ASN][1000 genomes]
rs7464358	0.92[ASN][1000 genomes]
rs7818691	0.91[ASN][1000 genomes]
rs7828197	0.80[ASN][1000 genomes]
rs7830404	0.82[ASN][1000 genomes]
rs7839041	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9644628	0.80[ASN][1000 genomes]
rs9644629	0.80[ASN][1000 genomes]
rs9644631	0.80[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	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats 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	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
5	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
6	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
7	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
8	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19310600-19359600	Weak transcription	Ovary	ovary
2	chr8:19319600-19362800	Weak transcription	Spleen	Spleen
3	chr8:19331000-19352800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:19333400-19362200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:19334600-19347400	Weak transcription	Right Atrium	heart
6	chr8:19336000-19341800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:19336000-19341800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr8:19336000-19345000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr8:19336600-19340200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr8:19337000-19341200	Weak transcription	Adipose Nuclei	Adipose
11	chr8:19337600-19342600	Enhancers	Left Ventricle	heart
12	chr8:19338000-19351000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:19338200-19340800	Enhancers	Hela-S3	cervix
14	chr8:19338600-19340800	Weak transcription	Placenta	Placenta
15	chr8:19338600-19341000	Weak transcription	NH-A	brain
16	chr8:19338600-19341400	Weak transcription	HSMM	muscle
17	chr8:19338600-19344000	Weak transcription	Brain Anterior Caudate	brain
18	chr8:19338800-19340000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr8:19338800-19340800	Weak transcription	HSMMtube	muscle
20	chr8:19338800-19341000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:19338800-19341000	Weak transcription	HUVEC	blood vessel
22	chr8:19338800-19347200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:19338800-19370600	Weak transcription	Esophagus	oesophagus
24	chr8:19339000-19340000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr8:19339000-19340000	Enhancers	Primary hematopoietic stem cells	blood
26	chr8:19339000-19340000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:19339000-19340200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr8:19339000-19340400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:19339000-19340600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:19339000-19340600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:19339000-19340800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:19339000-19340800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:19339000-19341000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:19339000-19341000	Weak transcription	NHDF-Ad	bronchial
35	chr8:19339000-19341000	Weak transcription	Osteobl	bone
36	chr8:19339000-19341200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:19339000-19341200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:19339000-19341200	Weak transcription	NHLF	lung
39	chr8:19339000-19341400	Weak transcription	Aorta	Aorta
40	chr8:19339000-19347800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:19339000-19351800	Weak transcription	Primary B cells from cord blood	blood
42	chr8:19339200-19339800	Enhancers	Thymus	Thymus
43	chr8:19339200-19340000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr8:19339200-19340000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:19339200-19340200	Enhancers	Fetal Thymus	thymus
46	chr8:19339200-19340400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:19339400-19339800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:19339400-19340000	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr8:19339400-19340400	Enhancers	Right Ventricle	heart
50	chr8:19339400-19340800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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