Variant report

Variant	rs996103
Chromosome Location	chr2:33428307-33428308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10205739	0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs10211514	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10495784	0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs1065324	0.86[ASW][hapmap];0.92[CEU][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.84[LWK][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11124310	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11681694	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs12104955	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12611532	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs12611549	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12617948	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12617970	0.93[ASW][hapmap];0.92[CEU][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12620853	0.85[CEU][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1377946	0.80[CHB][hapmap];0.86[CHD][hapmap]
rs1377947	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs1454378	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1454379	0.86[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs17012632	0.81[YRI][hapmap]
rs17012668	0.85[CHB][hapmap]
rs17565877	0.85[CEU][hapmap];0.81[ASN][1000 genomes]
rs17566780	0.87[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17567417	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17568051	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17641062	0.96[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17641180	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17641906	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17642074	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1869542	0.86[CHB][hapmap];0.89[CHD][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs1947444	0.89[CEU][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.82[MKK][hapmap];0.82[EUR][1000 genomes]
rs2061026	0.86[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2061027	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2290448	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2290449	0.81[CHB][hapmap]
rs2367619	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2367620	0.84[EUR][1000 genomes]
rs2367623	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2367624	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs34577456	0.86[EUR][1000 genomes]
rs4474865	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs4630744	0.86[JPT][hapmap];0.80[TSI][hapmap]
rs4670186	0.82[EUR][1000 genomes]
rs4670245	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4670251	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4670252	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4670307	0.86[CHB][hapmap];0.89[CHD][hapmap];0.86[ASN][1000 genomes]
rs4670660	0.81[EUR][1000 genomes]
rs4670778	0.92[CEU][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4670822	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4670828	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4670833	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4670836	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4670849	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4670857	0.97[GIH][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4670860	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4670863	0.86[EUR][1000 genomes]
rs4670928	1.00[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.88[LWK][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671010	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4671016	0.90[CHB][hapmap]
rs4671024	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671035	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5006120	0.87[EUR][1000 genomes]
rs5006124	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5006125	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5006126	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55911139	0.83[EUR][1000 genomes]
rs56163907	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56282338	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56988251	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58774073	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58920936	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60000782	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60558455	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62146677	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62146678	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62146679	0.85[EUR][1000 genomes]
rs62146726	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62146732	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6543698	0.86[EUR][1000 genomes]
rs6543699	0.89[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6543700	0.86[EUR][1000 genomes]
rs6705772	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6707904	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6707962	0.97[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6712473	0.97[GIH][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6715793	0.85[CEU][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs6720059	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6720185	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6720405	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6736908	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6748806	0.86[EUR][1000 genomes]
rs6751657	0.81[CHD][hapmap];0.97[GIH][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6759943	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs726429	0.91[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7423390	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs7580348	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581446	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7584473	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595240	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7608222	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7608535	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9308931	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs964702	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs964703	0.82[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs996102	0.80[CHB][hapmap];0.88[ASN][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33409200-33441600	Weak transcription	Psoas Muscle	Psoas
3	chr2:33410400-33438000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:33414000-33434200	Weak transcription	HUVEC	blood vessel
5	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
6	chr2:33415000-33434400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:33415200-33441600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:33415400-33441600	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:33415600-33431800	Weak transcription	NHDF-Ad	bronchial
10	chr2:33415600-33434200	Weak transcription	K562	blood
11	chr2:33415800-33431800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:33417400-33431800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:33418200-33433400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:33418400-33435000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:33419000-33434200	Weak transcription	NH-A	brain
16	chr2:33420000-33432000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:33420800-33430400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:33423000-33439400	Weak transcription	Pancreas	Pancrea
19	chr2:33423000-33439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:33426600-33435000	Weak transcription	Gastric	stomach
21	chr2:33427000-33428400	Enhancers	Fetal Heart	heart
22	chr2:33427400-33432200	Weak transcription	Fetal Lung	lung
23	chr2:33427600-33428400	Enhancers	Left Ventricle	heart
24	chr2:33427600-33430600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:33427600-33431800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:33427800-33428400	Enhancers	Aorta	Aorta
27	chr2:33427800-33428600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:33427800-33428600	Enhancers	Right Atrium	heart
29	chr2:33427800-33428600	Enhancers	Right Ventricle	heart
30	chr2:33428000-33428600	Strong transcription	NHLF	lung
31	chr2:33428000-33428800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:33428000-33429000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:33428000-33429000	Strong transcription	Osteobl	bone
34	chr2:33428000-33435200	Weak transcription	Ovary	ovary
35	chr2:33428000-33437000	Weak transcription	Liver	Liver
36	chr2:33428200-33428600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:33428200-33432000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:33428200-33432200	Weak transcription	Stomach Smooth Muscle	stomach

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