Variant report

Variant	rs4972944
Chromosome Location	chr2:231147911-231147912
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10209959	0.82[JPT][hapmap]
rs13010639	0.82[YRI][hapmap]
rs1559910	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2894708	1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs4143559	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6436926	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6739193	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231090200-231170000	Weak transcription	Spleen	Spleen
2	chr2:231128200-231166000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:231133600-231150200	Weak transcription	Left Ventricle	heart
4	chr2:231136400-231158400	Weak transcription	Primary T cells from cord blood	blood
5	chr2:231136600-231150000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:231136600-231151400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:231136600-231157600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:231136800-231151800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:231137000-231151000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:231137200-231149800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:231137200-231150200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:231137400-231150000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:231137600-231151200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:231138200-231148200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:231140600-231149800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:231144600-231148800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:231144800-231150000	Weak transcription	GM12878-XiMat	blood
18	chr2:231145000-231148200	Weak transcription	Primary B cells from cord blood	blood
19	chr2:231146000-231160600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:231147200-231165400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:231147800-231148000	Enhancers	Right Atrium	heart
22	chr2:231147800-231182400	Weak transcription	Rectal Mucosa Donor 29	rectum

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