Variant report

Variant	rs11562970
Chromosome Location	chr2:234900132-234900133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234898313..234900423-chr2:234907610..234909955,2	MCF-7	breast:
2	2:234494396-234495604..2:234898811-234918017	K562	blood:
3	2:234498935-234505513..2:234898811-234918017	Hela-S3	cervix:
4	2:234772667-234780240..2:234898811-234918017	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000224287	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11562993	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11563031	1.00[YRI][hapmap]
rs11563126	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11563127	1.00[YRI][hapmap]
rs11563128	1.00[YRI][hapmap]
rs11563129	1.00[YRI][hapmap]
rs11563253	1.00[YRI][hapmap]
rs28901880	1.00[YRI][hapmap];0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription 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	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr2:234886400-234901200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:234892400-234901000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:234893000-234901200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:234893400-234904800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:234896600-234903400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:234896800-234903200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:234896800-234903600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr2:234896800-234905000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:234897400-234900200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:234898000-234900400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr2:234898200-234903400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:234898600-234912400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:234899000-234901200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:234899200-234901800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr2:234899200-234903600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:234899200-234904400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:234899400-234901400	Weak transcription	HepG2	liver
18	chr2:234899400-234902000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:234899400-234902400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:234899600-234905200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:234899800-234903600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:234900000-234901600	Enhancers	Primary T cells from cord blood	blood
23	chr2:234900000-234908000	Strong transcription	Liver	Liver

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