Variant report

Variant	rs34503992
Chromosome Location	chr2:63048417-63048418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10208675	1.00[CHD][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap]
rs1038570	0.89[CHD][hapmap]
rs12617178	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12987254	0.84[CEU][hapmap];0.88[MKK][hapmap]
rs13003895	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13030015	0.84[CEU][hapmap];0.81[GIH][hapmap];0.95[MKK][hapmap]
rs13398408	0.89[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap]
rs1362311	1.00[CEU][hapmap];0.88[GIH][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs1386400	0.89[CHD][hapmap]
rs2054835	0.80[AMR][1000 genomes]
rs2421816	0.83[MKK][hapmap]
rs2539979	0.84[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs2539986	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2553042	0.84[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap]
rs2710635	1.00[JPT][hapmap]
rs2710642	0.88[MKK][hapmap]
rs2931488	0.94[CEU][hapmap]
rs2969300	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs35499742	0.93[GIH][hapmap];0.91[MEX][hapmap]
rs35801289	0.91[EUR][1000 genomes]
rs36009942	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs360786	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs360787	0.80[AMR][1000 genomes]
rs360788	0.80[AMR][1000 genomes]
rs360789	0.80[AMR][1000 genomes]
rs360790	0.80[AMR][1000 genomes]
rs360793	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs360794	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs360795	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs360796	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs360798	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs360802	0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes]
rs360805	0.89[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap]
rs360806	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs36193012	0.80[AMR][1000 genomes]
rs56065771	0.83[AMR][1000 genomes]
rs6545973	0.84[MKK][hapmap]
rs6758263	0.80[AMR][1000 genomes]
rs6760804	0.82[CHD][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs67657712	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[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	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63017400-63049400	Weak transcription	Fetal Heart	heart
2	chr2:63020600-63082000	Weak transcription	Pancreas	Pancrea
3	chr2:63023800-63049000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:63028600-63063400	Weak transcription	Brain Substantia Nigra	brain
5	chr2:63031000-63083000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:63031400-63082000	Weak transcription	Thymus	Thymus
7	chr2:63031600-63053800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:63033800-63052800	Weak transcription	Primary T cells from cord blood	blood
9	chr2:63033800-63060600	Weak transcription	Aorta	Aorta
10	chr2:63034400-63054000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:63035200-63053000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:63038200-63054000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:63040400-63048600	Weak transcription	Liver	Liver
14	chr2:63040600-63082000	Weak transcription	Lung	lung
15	chr2:63040800-63048600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:63040800-63053400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:63041000-63053200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:63041400-63053200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:63041600-63053200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:63041600-63060400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:63041800-63052400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:63041800-63053200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:63041800-63054000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:63041800-63060400	Weak transcription	K562	blood
25	chr2:63042000-63054200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:63044000-63060200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:63044600-63049200	Weak transcription	A549	lung
28	chr2:63045000-63053200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:63045000-63053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:63045400-63060200	Weak transcription	Psoas Muscle	Psoas
31	chr2:63045600-63053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:63045600-63053200	Weak transcription	Ovary	ovary
33	chr2:63045600-63072400	Weak transcription	NHEK	skin
34	chr2:63045800-63052200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:63045800-63052200	Weak transcription	NHDF-Ad	bronchial
36	chr2:63045800-63052800	Weak transcription	HMEC	breast
37	chr2:63045800-63053200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:63046000-63053000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:63046400-63101800	Weak transcription	Brain Angular Gyrus	brain
40	chr2:63048200-63054000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:63048400-63048600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr2:63048400-63049000	Genic enhancers	HepG2	liver

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