Variant report

Variant	rs62136457
Chromosome Location	chr2:64262730-64262731
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64244952..64247462-chr2:64258343..64262786,4	K562	blood:
2	chr2:64256991..64258692-chr2:64262523..64264445,2	MCF-7	breast:
3	chr2:64256185..64258127-chr2:64260254..64262848,2	K562	blood:

Variant related genes	Relation type
ENSG00000143952	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10496104	1.00[ASN][1000 genomes]
rs11884555	1.00[ASN][1000 genomes]
rs11896894	0.83[ASN][1000 genomes]
rs11899693	1.00[ASN][1000 genomes]
rs17028239	1.00[ASN][1000 genomes]
rs17028275	1.00[ASN][1000 genomes]
rs17028316	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033864	1.00[ASN][1000 genomes]
rs4277507	1.00[ASN][1000 genomes]
rs4470330	1.00[ASN][1000 genomes]
rs4517960	1.00[ASN][1000 genomes]
rs55977137	0.94[EUR][1000 genomes]
rs56053068	0.84[EUR][1000 genomes]
rs56155077	0.94[EUR][1000 genomes]
rs56683028	1.00[ASN][1000 genomes]
rs56978264	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57085982	1.00[ASN][1000 genomes]
rs57252448	0.94[EUR][1000 genomes]
rs57936760	0.94[EUR][1000 genomes]
rs58074696	0.94[EUR][1000 genomes]
rs58198691	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58297806	0.94[EUR][1000 genomes]
rs58732522	1.00[ASN][1000 genomes]
rs58889204	0.94[EUR][1000 genomes]
rs58982089	0.94[EUR][1000 genomes]
rs59156176	0.82[EUR][1000 genomes]
rs59736629	0.94[EUR][1000 genomes]
rs60044466	1.00[ASN][1000 genomes]
rs60350159	0.94[EUR][1000 genomes]
rs60847776	0.82[EUR][1000 genomes]
rs61486417	0.94[EUR][1000 genomes]
rs62136402	1.00[ASN][1000 genomes]
rs62136407	1.00[ASN][1000 genomes]
rs62136423	1.00[ASN][1000 genomes]
rs62136425	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136429	0.94[EUR][1000 genomes]
rs62136436	1.00[EUR][1000 genomes]
rs62136446	0.94[EUR][1000 genomes]
rs62136447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136458	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420692	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription 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	27 gene(s)	inside rSNPs	diseases
6	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64247600-64262800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:64251200-64273200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:64258400-64263200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:64261200-64263200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr2:64261200-64266200	Weak transcription	HepG2	liver
6	chr2:64261400-64263800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:64261800-64263400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:64261800-64263800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:64261800-64264200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:64261800-64264800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:64262000-64262800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:64262000-64263000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:64262000-64263200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr2:64262000-64263200	Enhancers	Osteobl	bone
15	chr2:64262000-64263600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr2:64262200-64262800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:64262200-64262800	Enhancers	NHLF	lung
18	chr2:64262200-64263200	Enhancers	Primary T cells from cord blood	blood
19	chr2:64262200-64263200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:64262200-64263200	Enhancers	Dnd41	blood
21	chr2:64262200-64263200	Enhancers	GM12878-XiMat	blood
22	chr2:64262200-64263600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:64262200-64263600	Enhancers	Thymus	Thymus
24	chr2:64262200-64263800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:64262200-64263800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:64262200-64264400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr2:64262400-64263000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:64262400-64263000	Weak transcription	NHDF-Ad	bronchial
29	chr2:64262400-64263200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:64262400-64263200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:64262400-64263600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:64262400-64263600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:64262400-64263800	Enhancers	HSMM	muscle
34	chr2:64262400-64264000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:64262600-64263800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:64262600-64264000	Enhancers	HUES64 Cell Line	embryonic stem cell

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