Variant report

Variant	rs6710297
Chromosome Location	chr2:231157512-231157513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10933330	1.00[ASN][1000 genomes]
rs12694846	0.95[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12694867	1.00[CHD][hapmap]
rs13007094	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023767	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397985	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs13413034	1.00[CHD][hapmap]
rs2396742	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396743	1.00[ASN][1000 genomes]
rs28445040	1.00[CHD][hapmap];0.88[GIH][hapmap]
rs34004493	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35256947	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191195	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191198	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62192163	1.00[ASN][1000 genomes]
rs6710287	1.00[CHD][hapmap]
rs6716753	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs6743984	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs6755306	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7423615	1.00[CHD][hapmap];0.88[GIH][hapmap]
rs890581	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933957	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs9967748	0.82[YRI][hapmap]
rs9989899	1.00[CHD][hapmap];0.88[GIH][hapmap]

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:21 , 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	chr2:231136400-231158400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:231136600-231157600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:231146000-231160600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:231147200-231165400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr2:231147800-231182400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:231148200-231160600	Strong transcription	Primary B cells from cord blood	blood
9	chr2:231148800-231161000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:231149800-231160800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:231149800-231161000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:231152800-231161200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:231153000-231161200	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:231153000-231165400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:231153400-231165400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:231153600-231159600	Strong transcription	GM12878-XiMat	blood
17	chr2:231153800-231183400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:231154000-231165400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:231154600-231164400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:231156800-231157600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:231156800-231158400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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