Variant report

Variant	rs56716621
Chromosome Location	chr2:231135662-231135663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3769847	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3820976	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59559342	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6707997	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73106372	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7563479	0.94[EUR][1000 genomes]
rs7602027	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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	chr2:231119200-231141200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:231125400-231136800	Strong transcription	Primary B cells from cord blood	blood
4	chr2:231128200-231166000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:231129400-231137200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:231129800-231140800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:231130000-231138200	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:231130200-231137800	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:231133400-231137600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:231133600-231137000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:231133600-231150200	Weak transcription	Left Ventricle	heart
12	chr2:231133800-231136600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:231134000-231136800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:231134000-231137200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:231134200-231137000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:231134200-231137400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:231134200-231137600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:231134800-231136600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:231135000-231144000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:231135400-231136400	Strong transcription	Primary T cells from cord blood	blood
21	chr2:231135600-231136600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:231135600-231137200	ZNF genes & repeats	GM12878-XiMat	blood

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