Variant report

Variant	rs17640469
Chromosome Location	chr2:33392365-33392366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33383408..33387314-chr2:33391651..33394582,3	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10205739	0.89[CEU][hapmap]
rs10211514	0.81[AMR][1000 genomes]
rs10432657	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs10495783	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1065324	0.82[CHB][hapmap];0.84[MEX][hapmap]
rs11124309	0.85[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.80[AMR][1000 genomes]
rs11676681	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11681694	0.88[CEU][hapmap]
rs12611532	0.81[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes]
rs12617970	0.82[CHB][hapmap];0.88[MEX][hapmap]
rs12620853	0.83[MEX][hapmap]
rs1377946	0.96[CEU][hapmap]
rs1377947	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs17012632	0.92[YRI][hapmap]
rs17566780	0.81[CHB][hapmap]
rs17641062	0.82[CHB][hapmap]
rs17641115	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1869542	0.96[CEU][hapmap];0.84[GIH][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs1902049	0.91[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1947444	0.88[MEX][hapmap]
rs2061026	0.82[CEU][hapmap]
rs2290449	0.92[CEU][hapmap]
rs2367619	0.81[AMR][1000 genomes]
rs2367620	0.80[AMR][1000 genomes]
rs2367624	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs34577456	0.81[ASN][1000 genomes]
rs4542826	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4670184	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4670186	0.83[AMR][1000 genomes]
rs4670225	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4670252	0.81[AMR][1000 genomes]
rs4670307	0.89[CEU][hapmap];0.82[GIH][hapmap]
rs4670778	0.82[CHB][hapmap]
rs4670822	0.81[AMR][1000 genomes]
rs4670833	0.81[AMR][1000 genomes]
rs4670857	0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes]
rs4670860	0.82[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs4670863	0.81[AMR][1000 genomes]
rs4671016	0.92[CEU][hapmap]
rs5006120	0.81[AMR][1000 genomes]
rs5006124	0.80[AMR][1000 genomes]
rs5006125	0.81[AMR][1000 genomes]
rs55911139	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55957962	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62146679	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62146704	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6543689	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6543690	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6543691	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6543698	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes]
rs6707911	0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6707962	0.82[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs6708836	0.96[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6712473	0.82[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs6715793	0.83[MEX][hapmap]
rs6720059	0.81[AMR][1000 genomes]
rs6720185	0.81[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes]
rs6728094	0.85[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6736908	0.80[AMR][1000 genomes]
rs6739323	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6743685	0.85[CEU][hapmap];0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6748806	0.81[AMR][1000 genomes]
rs6751657	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes]
rs6759943	0.81[AMR][1000 genomes]
rs7423390	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs7571401	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9308931	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs961239	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs964702	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs996102	0.89[CEU][hapmap];0.82[EUR][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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33369800-33404000	Weak transcription	Right Ventricle	heart
2	chr2:33371600-33395600	Weak transcription	Psoas Muscle	Psoas
3	chr2:33375000-33408400	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:33384800-33392400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:33386200-33392600	Weak transcription	Aorta	Aorta
6	chr2:33388800-33394000	Weak transcription	Fetal Lung	lung
7	chr2:33389800-33393200	Enhancers	NH-A	brain
8	chr2:33389800-33394400	Enhancers	NHDF-Ad	bronchial
9	chr2:33390000-33394400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:33390000-33394400	Enhancers	NHLF	lung
11	chr2:33390200-33392800	Enhancers	HUVEC	blood vessel
12	chr2:33390200-33393800	Weak transcription	Fetal Heart	heart
13	chr2:33390200-33394800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:33390400-33394400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:33390800-33393000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:33391600-33392600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:33391800-33392800	Enhancers	Right Atrium	heart
18	chr2:33391800-33393200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:33391800-33394400	Enhancers	Ovary	ovary
20	chr2:33391800-33394800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:33392000-33392600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:33392000-33392800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:33392000-33393400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:33392000-33394400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:33392200-33393400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:33392200-33393800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:33392200-33393800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:33392200-33394400	Enhancers	Osteobl	bone
29	chr2:33392200-33411800	Weak transcription	Left Ventricle	heart

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