Variant report

Variant	rs4670225
Chromosome Location	chr2:33402392-33402393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10205739	0.92[CEU][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.86[EUR][1000 genomes]
rs10211514	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10432657	0.81[CEU][hapmap];0.85[YRI][hapmap]
rs10495783	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10495784	0.81[CEU][hapmap];0.83[JPT][hapmap]
rs11124309	0.89[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11676681	0.81[AMR][1000 genomes]
rs11681694	0.92[CEU][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.87[EUR][1000 genomes]
rs12466553	0.86[JPT][hapmap]
rs12611532	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1377946	1.00[CEU][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs1377947	1.00[CEU][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1454379	0.81[CEU][hapmap];0.83[JPT][hapmap]
rs17565877	0.81[JPT][hapmap]
rs17640469	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]
rs17641115	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1869542	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.82[LWK][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1902049	0.86[CHB][hapmap];0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs2061026	0.85[CEU][hapmap];0.83[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes]
rs2290449	0.96[CEU][hapmap];0.87[GIH][hapmap];0.83[JPT][hapmap];0.84[MKK][hapmap];0.82[TSI][hapmap];0.88[YRI][hapmap];0.83[EUR][1000 genomes]
rs2367619	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2367620	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2367624	1.00[CEU][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs34577456	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4542826	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4670184	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4670186	0.84[AMR][1000 genomes]
rs4670252	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4670307	0.92[CEU][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap];0.93[YRI][hapmap];0.88[EUR][1000 genomes]
rs4670660	0.81[AMR][1000 genomes]
rs4670822	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4670833	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4670857	0.83[ASW][hapmap];0.81[CEU][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.86[MKK][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4670860	0.85[CEU][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4670863	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4671016	0.96[CEU][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs5006120	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs5006121	0.83[AMR][1000 genomes]
rs5006122	0.84[AMR][1000 genomes]
rs5006123	0.83[AMR][1000 genomes]
rs5006124	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs5006125	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55911139	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55957962	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58920936	0.86[EUR][1000 genomes]
rs62146679	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62146704	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6543689	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6543690	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6543691	0.96[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6543698	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6543699	0.86[JPT][hapmap]
rs6543700	0.83[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6707911	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6707962	0.89[ASW][hapmap];0.85[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.86[MKK][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6708836	0.89[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6712473	0.89[ASW][hapmap];0.85[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.85[MKK][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6720059	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6720185	0.85[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6728094	0.81[CEU][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6736908	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6739323	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6743685	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs6748806	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6751657	0.89[ASW][hapmap];0.85[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.86[MKK][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6759943	0.80[JPT][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7423390	0.93[CEU][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7571401	0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9308931	1.00[CEU][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs961239	0.92[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs964702	1.00[CEU][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs964703	0.83[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs996102	0.92[CEU][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.89[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33369800-33404000	Weak transcription	Right Ventricle	heart
2	chr2:33375000-33408400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:33392200-33411800	Weak transcription	Left Ventricle	heart
4	chr2:33392600-33405600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:33392800-33413600	Weak transcription	HUVEC	blood vessel
6	chr2:33393000-33405000	Weak transcription	Aorta	Aorta
7	chr2:33393200-33408400	Weak transcription	NH-A	brain
8	chr2:33393400-33405000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:33394000-33420600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:33394400-33406000	Weak transcription	Osteobl	bone
11	chr2:33394400-33408200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:33394400-33408400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:33394400-33410000	Weak transcription	NHLF	lung
14	chr2:33394400-33412000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:33394400-33415000	Weak transcription	NHDF-Ad	bronchial
16	chr2:33394800-33408200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:33394800-33408400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:33398600-33408400	Weak transcription	Ovary	ovary
19	chr2:33400400-33413600	Weak transcription	Liver	Liver
20	chr2:33400800-33405000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:33401600-33405200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:33402000-33402400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:33402000-33408400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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