Variant report

Variant	rs1947444
Chromosome Location	chr2:33391901-33391902
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: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10211514	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10432657	0.85[CEU][hapmap]
rs10495783	0.84[MEX][hapmap]
rs1065324	0.96[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12104955	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12611532	0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12611549	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12617948	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12617970	0.96[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.84[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12620853	0.96[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1454379	0.80[GIH][hapmap]
rs17565877	0.96[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17566780	0.92[CEU][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17567417	0.89[CEU][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.81[MKK][hapmap];0.82[EUR][1000 genomes]
rs17568051	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs17640469	0.88[MEX][hapmap]
rs17641062	0.96[CEU][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17641180	0.96[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs17641906	0.92[CEU][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap]
rs17642074	0.85[CEU][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap]
rs2061026	0.81[CEU][hapmap]
rs2061027	0.96[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs2290448	0.85[CEU][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap]
rs2367619	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2367620	0.83[EUR][1000 genomes]
rs2367623	0.89[CEU][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs34577456	0.85[EUR][1000 genomes]
rs4474865	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4542826	0.81[JPT][hapmap]
rs4630744	0.81[CEU][hapmap]
rs4670186	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4670245	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4670251	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4670252	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4670660	0.82[EUR][1000 genomes]
rs4670778	0.96[CEU][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4670822	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4670828	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4670833	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4670836	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4670849	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4670857	0.92[GIH][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4670860	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4670863	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4670928	0.96[CEU][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4671010	0.96[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs4671024	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs4671035	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs5006120	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5006124	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5006125	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5006126	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55673259	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55911139	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56282338	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56988251	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60000782	0.87[EUR][1000 genomes]
rs60558455	0.82[EUR][1000 genomes]
rs60692621	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs62133341	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62146677	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62146678	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62146679	0.84[EUR][1000 genomes]
rs62146726	0.86[EUR][1000 genomes]
rs6543698	0.81[CEU][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6543699	0.92[CEU][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6543700	0.85[EUR][1000 genomes]
rs6705772	0.96[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs6707904	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6707962	0.81[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6708836	0.84[MEX][hapmap]
rs6712473	0.81[CEU][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs6715793	0.86[ASW][hapmap];0.96[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6720059	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6720185	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6720405	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6728094	0.85[CEU][hapmap];0.86[CHD][hapmap];0.80[MEX][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6736908	0.85[EUR][1000 genomes]
rs6743685	0.85[CEU][hapmap];0.82[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6748806	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6751657	0.81[CEU][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6759943	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs726429	0.96[CEU][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7580348	0.96[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs7584473	0.84[EUR][1000 genomes]
rs7595240	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs996103	0.89[CEU][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.82[MKK][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	chr2:33384400-33392000	Weak transcription	Left Ventricle	heart
5	chr2:33384800-33392400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:33386200-33392600	Weak transcription	Aorta	Aorta
7	chr2:33388600-33392000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:33388800-33394000	Weak transcription	Fetal Lung	lung
9	chr2:33389800-33393200	Enhancers	NH-A	brain
10	chr2:33389800-33394400	Enhancers	NHDF-Ad	bronchial
11	chr2:33390000-33394400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:33390000-33394400	Enhancers	NHLF	lung
13	chr2:33390200-33392800	Enhancers	HUVEC	blood vessel
14	chr2:33390200-33393800	Weak transcription	Fetal Heart	heart
15	chr2:33390200-33394800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:33390400-33394400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:33390800-33393000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:33391000-33392000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:33391400-33392200	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:33391600-33392200	Flanking Active TSS	Osteobl	bone
21	chr2:33391600-33392600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:33391800-33392000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:33391800-33392000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:33391800-33392000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr2:33391800-33392200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:33391800-33392800	Enhancers	Right Atrium	heart
27	chr2:33391800-33393200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:33391800-33394400	Enhancers	Ovary	ovary
29	chr2:33391800-33394800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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