Variant report

Variant	rs62136447
Chromosome Location	chr2:64252072-64252073
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	chr2:64244419..64248447-chr2:64249482..64256147,6	MCF-7	breast:
2	chr2:64251335..64255008-chr2:64255786..64259305,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143952	Chromatin interaction

Extended variants
information (count: 45 )
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	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136429	0.94[EUR][1000 genomes]
rs62136436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62136446	0.94[EUR][1000 genomes]
rs62136457	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136458	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136459	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420692	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64247200-64254200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:64247400-64253000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:64247400-64253800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:64247600-64262800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:64248000-64252600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:64248400-64252600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:64249000-64252400	Weak transcription	Primary T cells from cord blood	blood
8	chr2:64249000-64252600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:64249000-64252600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:64249000-64254000	Weak transcription	K562	blood
11	chr2:64249000-64256200	Weak transcription	NHDF-Ad	bronchial
12	chr2:64249200-64252200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:64249200-64252400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:64249200-64253000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:64249200-64253200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:64250600-64252600	Enhancers	Liver	Liver
17	chr2:64250800-64252200	Enhancers	Fetal Intestine Small	intestine
18	chr2:64250800-64252400	Enhancers	Fetal Intestine Large	intestine
19	chr2:64251200-64253800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:64251200-64253800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:64251200-64273200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:64251400-64252400	Weak transcription	Fetal Thymus	thymus
23	chr2:64251400-64252400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:64251400-64252400	Weak transcription	Dnd41	blood
25	chr2:64251400-64253000	Weak transcription	Thymus	Thymus
26	chr2:64251400-64253000	Weak transcription	GM12878-XiMat	blood
27	chr2:64251400-64253800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:64251400-64253800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:64251400-64254000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:64251400-64254000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:64251400-64255800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:64251400-64256600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:64251400-64256600	Weak transcription	Stomach Mucosa	stomach
34	chr2:64252000-64254600	Enhancers	HepG2	liver

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