Variant report

Variant	rs2267586
Chromosome Location	chr19:36159368-36159369
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36159215..36161380-chr19:36163087..36164675,2	K562	blood:

Variant related genes	Relation type
ENSG00000226510	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11546662	0.83[EUR][1000 genomes]
rs11546665	0.83[EUR][1000 genomes]
rs11881242	0.82[TSI][hapmap]
rs12459935	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs16970649	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs17776834	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2227278	0.88[CEU][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs2234360	0.88[CEU][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs2234375	0.85[EUR][1000 genomes]
rs2267585	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2285420	1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2311873	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2871893	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2871894	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34562867	0.84[EUR][1000 genomes]
rs3817622	0.85[EUR][1000 genomes]
rs3893069	0.85[EUR][1000 genomes]
rs41361648	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4580318	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4992668	0.85[EUR][1000 genomes]
rs56849855	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57180990	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58255615	0.85[EUR][1000 genomes]
rs58496446	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58952294	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60264154	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61220012	0.88[EUR][1000 genomes]
rs61254015	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61351824	0.80[EUR][1000 genomes]
rs61375471	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73590543	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73590544	0.86[AMR][1000 genomes]
rs73590559	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73590564	0.85[EUR][1000 genomes]
rs73590568	0.87[EUR][1000 genomes]
rs73590576	0.85[EUR][1000 genomes]
rs73590585	0.84[EUR][1000 genomes]
rs73590591	0.84[EUR][1000 genomes]
rs73590598	0.85[EUR][1000 genomes]
rs73592416	0.85[EUR][1000 genomes]
rs73592448	0.83[EUR][1000 genomes]
rs73592461	0.83[EUR][1000 genomes]
rs73599271	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73599272	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73599274	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73599279	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73599281	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73599286	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73599289	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73600880	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73600881	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73600885	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73600892	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73600893	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73600896	0.82[AMR][1000 genomes]
rs73600899	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73602803	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73602804	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73602806	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73602823	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73602827	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73602832	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73602833	0.88[AMR][1000 genomes];0.86[EUR][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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv543995	chr19:36139204-36203592	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
6	nsv526166	chr19:36156588-36159368	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv817832	chr19:36156588-36159368	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
9	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36140400-36164000	Weak transcription	Right Atrium	heart
2	chr19:36149600-36164000	Weak transcription	HMEC	breast
3	chr19:36149800-36161600	Weak transcription	Osteobl	bone
4	chr19:36149800-36163400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:36150000-36160800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:36151200-36159400	Weak transcription	A549	lung
7	chr19:36151200-36160800	Weak transcription	Brain Substantia Nigra	brain
8	chr19:36151200-36160800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr19:36152600-36159800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:36152600-36160800	Weak transcription	Brain Hippocampus Middle	brain
11	chr19:36152600-36161000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr19:36152800-36162600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:36153000-36164000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:36153400-36160000	Weak transcription	HepG2	liver
15	chr19:36153600-36159600	Weak transcription	Primary B cells from cord blood	blood
16	chr19:36155000-36159600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:36155200-36159800	Weak transcription	Brain Angular Gyrus	brain
18	chr19:36155400-36161000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:36155600-36164000	Weak transcription	HSMM	muscle
20	chr19:36156200-36164000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:36156400-36160600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:36156600-36160600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr19:36156600-36164200	Weak transcription	Gastric	stomach
24	chr19:36156800-36159400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:36156800-36159400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr19:36156800-36159400	Weak transcription	Primary T cells from cord blood	blood
27	chr19:36156800-36159600	Weak transcription	Fetal Thymus	thymus
28	chr19:36156800-36160000	Weak transcription	Left Ventricle	heart
29	chr19:36156800-36160600	Weak transcription	Fetal Intestine Small	intestine
30	chr19:36156800-36161000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:36156800-36164000	Weak transcription	Spleen	Spleen
32	chr19:36157200-36159600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:36157200-36160400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:36157200-36164000	Weak transcription	Esophagus	oesophagus
35	chr19:36157400-36164200	Weak transcription	Right Ventricle	heart
36	chr19:36157600-36161800	Weak transcription	Thymus	Thymus
37	chr19:36157800-36164000	Weak transcription	Pancreas	Pancrea
38	chr19:36159000-36159600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:36159200-36159400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:36159200-36159400	Enhancers	Ovary	ovary
41	chr19:36159200-36159600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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