Variant report

Variant	rs6544330
Chromosome Location	chr2:40585274-40585275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10165271	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10168748	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10178405	0.90[CHB][hapmap]
rs10192546	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10490051	0.80[CHB][hapmap]
rs11124739	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11690171	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12468092	0.91[ASN][1000 genomes]
rs12611602	0.82[CEU][hapmap]
rs12712692	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs12987979	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12988856	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12989200	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12989852	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12995004	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12996962	0.80[CHB][hapmap]
rs13014950	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13017968	0.86[CHB][hapmap];0.83[MEX][hapmap]
rs13022231	0.90[CHB][hapmap]
rs13031340	0.85[CHB][hapmap]
rs13031441	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs13405065	0.82[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1477004	0.90[CHB][hapmap]
rs1558654	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558655	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2192779	0.82[CHB][hapmap]
rs2373857	0.90[CHB][hapmap]
rs34443271	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4446101	0.95[CHB][hapmap]
rs4645043	0.90[CHB][hapmap]
rs4952409	0.85[CHB][hapmap]
rs6544323	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6544324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6544325	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6544326	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6544329	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6544334	0.86[CHB][hapmap]
rs6709574	0.91[ASN][1000 genomes]
rs6738580	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6738673	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7594786	0.82[ASN][1000 genomes]
rs967351	0.85[CHB][hapmap]
rs981739	0.90[CHB][hapmap]
rs984707	0.86[CHB][hapmap]
rs990270	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv873914	chr2:40573350-40586022	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
2	chr2:40574600-40586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:40574600-40590600	Weak transcription	Aorta	Aorta
4	chr2:40576800-40587600	Weak transcription	NH-A	brain
5	chr2:40579600-40586800	Enhancers	Colon Smooth Muscle	Colon
6	chr2:40580200-40587600	Weak transcription	NHLF	lung
7	chr2:40580600-40586800	Weak transcription	NHDF-Ad	bronchial
8	chr2:40580600-40587600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:40580600-40587800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:40580600-40587800	Weak transcription	HMEC	breast
11	chr2:40581200-40587600	Weak transcription	HSMM	muscle
12	chr2:40581200-40590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:40581200-40591800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:40581600-40591600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:40582000-40586000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:40583200-40586000	Weak transcription	Left Ventricle	heart
17	chr2:40583200-40586400	Enhancers	Fetal Heart	heart
18	chr2:40583200-40587600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:40583200-40587600	Weak transcription	Hela-S3	cervix
20	chr2:40583400-40587600	Weak transcription	Right Atrium	heart
21	chr2:40583600-40585400	Enhancers	Stomach Smooth Muscle	stomach
22	chr2:40584400-40587600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:40584400-40588800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:40584600-40587600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:40584800-40589000	Enhancers	Osteobl	bone
26	chr2:40585000-40585600	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:40585200-40586800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:40585200-40590800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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