Variant report

Variant	rs28948674
Chromosome Location	chr2:234908172-234908173
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: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11562948	1.00[JPT][hapmap]
rs11563071	1.00[JPT][hapmap]
rs17864759	1.00[JPT][hapmap]
rs17864777	1.00[JPT][hapmap]
rs17865679	1.00[JPT][hapmap]
rs17866588	1.00[JPT][hapmap]
rs17869068	1.00[JPT][hapmap]
rs17869069	1.00[JPT][hapmap]
rs17869070	1.00[JPT][hapmap]
rs28948673	0.80[CHB][hapmap];1.00[JPT][hapmap]

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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234898600-234912400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:234903000-234912400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:234903400-234909000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:234903600-234909200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:234904800-234911400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:234905000-234908600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:234905000-234909400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:234905200-234909000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:234906000-234911400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:234906800-234908200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:234906800-234909000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:234906800-234909200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:234906800-234912000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:234907000-234909000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:234907200-234908400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:234907200-234909400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:234907400-234908600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:234907800-234908200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:234907800-234908200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:234907800-234908400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:234908000-234908200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr2:234908000-234908400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:234908000-234908400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:234908000-234908600	Genic enhancers	Liver	Liver

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