Variant report

Variant	rs263681
Chromosome Location	chr2:211063352-211063353
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:211059527..211062192-chr2:211062532..211065500,2	K562	blood:
2	chr2:211032101..211034393-chr2:211062710..211064748,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10179268	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192315	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs1155845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11675027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11678206	1.00[ASN][1000 genomes]
rs11682370	1.00[ASN][1000 genomes]
rs11686587	1.00[CHB][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs11688180	1.00[ASN][1000 genomes]
rs11688922	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs11900095	0.80[EUR][1000 genomes]
rs12989455	1.00[ASN][1000 genomes]
rs12992714	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13002602	1.00[ASN][1000 genomes]
rs13006132	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs13009071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[ASN][1000 genomes]
rs13009890	1.00[ASN][1000 genomes]
rs13011543	1.00[ASN][1000 genomes]
rs13015354	1.00[ASN][1000 genomes]
rs13015487	0.80[EUR][1000 genomes]
rs13017647	1.00[ASN][1000 genomes]
rs13017752	1.00[ASN][1000 genomes]
rs13018349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs13019613	1.00[ASN][1000 genomes]
rs13020232	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13022638	0.80[EUR][1000 genomes]
rs13023313	0.80[EUR][1000 genomes]
rs13025700	1.00[CHB][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509568	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1509570	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509571	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844058	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16844213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2048277	0.80[EUR][1000 genomes]
rs2160020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs2539005	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263668	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.82[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs263680	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263686	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34334556	1.00[ASN][1000 genomes]
rs34678259	1.00[ASN][1000 genomes]
rs34693593	0.80[EUR][1000 genomes]
rs35125543	1.00[ASN][1000 genomes]
rs36080651	1.00[ASN][1000 genomes]
rs62202972	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435561	1.00[ASN][1000 genomes]
rs6714161	1.00[ASN][1000 genomes]
rs6716836	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs6732486	1.00[ASN][1000 genomes]
rs6732506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs6735292	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749996	1.00[CHB][hapmap];1.00[MEX][hapmap];0.80[EUR][1000 genomes]
rs6754591	1.00[ASN][1000 genomes]
rs6760874	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71350736	1.00[ASN][1000 genomes]
rs71350737	0.80[EUR][1000 genomes]
rs7557043	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7609345	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr2:211051000-211086600	Weak transcription	Adipose Nuclei	Adipose
2	chr2:211052200-211085600	Weak transcription	Aorta	Aorta
3	chr2:211052400-211067400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:211060200-211086600	Weak transcription	Pancreas	Pancrea
5	chr2:211060400-211066000	Weak transcription	NHLF	lung
6	chr2:211060400-211078600	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:211060400-211089000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:211060800-211064400	Weak transcription	Fetal Kidney	kidney
9	chr2:211062800-211063600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:211062800-211063800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:211062800-211064000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:211062800-211067200	Weak transcription	Liver	Liver
13	chr2:211063000-211063400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:211063000-211063400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:211063000-211063400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:211063000-211063400	Enhancers	HMEC	breast
17	chr2:211063000-211063800	Enhancers	HUVEC	blood vessel
18	chr2:211063000-211063800	Enhancers	NHEK	skin
19	chr2:211063000-211064000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:211063200-211063600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:211063200-211063600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:211063200-211063600	Enhancers	NH-A	brain
23	chr2:211063200-211063800	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:211063200-211063800	Enhancers	Dnd41	blood

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