Variant report

Variant	rs73212587
Chromosome Location	chr8:19372543-19372544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19371116..19373771-chr8:19377059..19378982,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10105464	0.96[EUR][1000 genomes]
rs11777593	0.80[EUR][1000 genomes]
rs11778525	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781106	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11782907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782972	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784776	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11787032	0.80[EUR][1000 genomes]
rs11994059	0.89[ASN][1000 genomes]
rs11994933	0.89[ASN][1000 genomes]
rs17479581	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17479749	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4436140	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4554481	0.98[EUR][1000 genomes]
rs4921650	0.82[EUR][1000 genomes]
rs4921656	0.93[EUR][1000 genomes]
rs4922040	0.89[ASN][1000 genomes]
rs4922042	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4922050	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4922054	0.84[AFR][1000 genomes]
rs55637382	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55647560	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55851368	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55856414	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55889457	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55915417	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56155045	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56163568	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57321774	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73212558	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73212568	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73212569	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73212582	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73212588	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818871	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv1018057	chr8:19370830-19435399	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19348000-19376600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:19363000-19372600	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr8:19363200-19372800	Weak transcription	Spleen	Spleen
4	chr8:19363200-19376600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:19364800-19376400	Weak transcription	Hela-S3	cervix
6	chr8:19367000-19385000	Weak transcription	Ovary	ovary
7	chr8:19368400-19372600	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:19368800-19372600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:19368800-19372600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:19368800-19372600	Weak transcription	Placenta	Placenta
11	chr8:19368800-19372800	Weak transcription	Gastric	stomach
12	chr8:19369000-19372600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr8:19369000-19372600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr8:19369200-19373800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:19369800-19372600	Enhancers	Primary B cells from cord blood	blood
16	chr8:19369800-19372800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:19370600-19372600	Weak transcription	Lung	lung
18	chr8:19370600-19372600	Weak transcription	Pancreas	Pancrea
19	chr8:19370600-19372600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:19370800-19372600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr8:19370800-19372600	Weak transcription	Right Atrium	heart
22	chr8:19370800-19372600	Weak transcription	Right Ventricle	heart
23	chr8:19370800-19372800	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:19370800-19374400	Weak transcription	A549	lung
25	chr8:19370800-19376800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:19370800-19381200	Weak transcription	Fetal Stomach	stomach
27	chr8:19370800-19385000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:19371200-19380000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:19371400-19373000	Enhancers	Left Ventricle	heart
30	chr8:19371400-19374400	Enhancers	Fetal Thymus	thymus
31	chr8:19371400-19374400	Enhancers	Thymus	Thymus
32	chr8:19371600-19372600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:19371800-19378400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:19372000-19372600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:19372400-19372800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr8:19372400-19372800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:19372400-19373000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr8:19372400-19373000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:19372400-19373000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr8:19372400-19373400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr8:19372400-19373400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr8:19372400-19373600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr8:19372400-19373600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr8:19372400-19373600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr8:19372400-19373600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:19372400-19373600	Enhancers	GM12878-XiMat	blood
47	chr8:19372400-19373800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:19372400-19374000	Enhancers	Primary hematopoietic stem cells	blood

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