Variant report

Variant	rs61276563
Chromosome Location	chr2:191735099-191735100
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191733897..191736229-chr2:191743172..191747273,3	K562	blood:
2	chr2:191727623..191730259-chr2:191733808..191736303,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235852	Chromatin interaction
ENSG00000115419	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16832940	1.00[EUR][1000 genomes]
rs16833146	1.00[EUR][1000 genomes]
rs3024863	1.00[EUR][1000 genomes]
rs3024881	1.00[EUR][1000 genomes]
rs41363648	1.00[EUR][1000 genomes]
rs41381545	1.00[EUR][1000 genomes]
rs41383548	1.00[EUR][1000 genomes]
rs41390345	1.00[EUR][1000 genomes]
rs41429347	1.00[EUR][1000 genomes]
rs41446247	1.00[EUR][1000 genomes]
rs41457850	1.00[EUR][1000 genomes]
rs41463952	1.00[EUR][1000 genomes]
rs41508653	1.00[EUR][1000 genomes]
rs45581732	1.00[EUR][1000 genomes]
rs45582434	1.00[EUR][1000 genomes]
rs45625838	1.00[EUR][1000 genomes]
rs56722217	1.00[EUR][1000 genomes]
rs57478729	1.00[EUR][1000 genomes]
rs58224506	1.00[EUR][1000 genomes]
rs58801716	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60491063	1.00[EUR][1000 genomes]
rs60582710	1.00[EUR][1000 genomes]
rs6712504	1.00[EUR][1000 genomes]
rs6721631	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043470	1.00[EUR][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	nsv875622	chr2:191618824-191745389	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv584064	chr2:191644537-191789907	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv584065	chr2:191644537-191875901	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191726400-191740600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:191728200-191744400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:191729200-191739800	Weak transcription	Primary T cells from cord blood	blood
4	chr2:191729600-191744200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:191729600-191744200	Weak transcription	HSMM	muscle
6	chr2:191732600-191736000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:191732600-191736200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:191732800-191735600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:191732800-191739800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:191733200-191744200	Weak transcription	Primary B cells from cord blood	blood
11	chr2:191733800-191735200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:191733800-191735200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:191733800-191736200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:191733800-191736400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:191734000-191735400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:191734000-191744800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:191734200-191735400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:191734200-191736200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:191734800-191736600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:191735000-191736200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:191735000-191736200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:191735000-191736400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:191735000-191736400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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