Variant report

Variant	rs7608885
Chromosome Location	chr2:64225198-64225199
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10171008	0.82[ASN][1000 genomes]
rs10187013	1.00[CEU][hapmap]
rs10201844	1.00[CEU][hapmap];0.86[GIH][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap]
rs10207847	0.87[EUR][1000 genomes]
rs11125986	0.89[EUR][1000 genomes]
rs12611543	0.88[ASN][1000 genomes]
rs12612549	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap]
rs12615049	0.88[ASN][1000 genomes]
rs1362797	0.89[EUR][1000 genomes]
rs1440004	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2080649	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164735	0.89[ASN][1000 genomes]
rs2165210	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2302809	0.88[EUR][1000 genomes]
rs2901636	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs329477	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs329480	0.89[CHB][hapmap]
rs329483	0.89[ASN][1000 genomes]
rs329486	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3980405	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072113	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[GIH][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap]
rs6546038	1.00[CEU][hapmap];0.84[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[EUR][1000 genomes]
rs6546039	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs6546040	0.82[EUR][1000 genomes]
rs6546042	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6546043	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6546046	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6705192	0.88[EUR][1000 genomes]
rs6716322	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6716558	0.81[EUR][1000 genomes]
rs6724024	0.84[ASN][1000 genomes]
rs6727120	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6736556	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6737855	1.00[CEU][hapmap]
rs6746875	0.90[EUR][1000 genomes]
rs6757168	0.83[ASN][1000 genomes]
rs7420396	0.82[ASN][1000 genomes]
rs7560265	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7589241	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7596262	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes]
rs7602952	0.86[AMR][1000 genomes];0.93[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	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
2	chr2:64176000-64228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:64194000-64243200	Weak transcription	NHLF	lung
5	chr2:64198600-64228000	Weak transcription	Right Ventricle	heart
6	chr2:64202800-64232400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:64203200-64228400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:64203400-64228000	Weak transcription	Ovary	ovary
9	chr2:64204200-64227600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:64205600-64228000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:64209000-64229200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:64209400-64244800	Weak transcription	HSMM	muscle
13	chr2:64210200-64243000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:64212800-64228400	Weak transcription	NHEK	skin
15	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
16	chr2:64217200-64227800	Weak transcription	Left Ventricle	heart
17	chr2:64217800-64225400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:64219200-64227800	Weak transcription	Fetal Stomach	stomach
19	chr2:64219200-64237000	Weak transcription	Placenta	Placenta
20	chr2:64219400-64238400	Weak transcription	Gastric	stomach
21	chr2:64221000-64228000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:64221400-64228600	Weak transcription	Thymus	Thymus
23	chr2:64221800-64226000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:64222400-64228600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:64222400-64230800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:64222400-64242600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:64222400-64243000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:64222600-64228800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:64223600-64235600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:64224000-64227200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:64224200-64225600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr2:64224600-64225800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:64224800-64225400	Weak transcription	HepG2	liver
34	chr2:64224800-64232600	Weak transcription	A549	lung
35	chr2:64224800-64233000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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