Variant report

Variant	rs7577238
Chromosome Location	chr2:72796096-72796097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10183056	1.00[CHB][hapmap]
rs10206555	1.00[CHB][hapmap]
rs1032982	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs10460572	1.00[CHB][hapmap]
rs10865391	1.00[CHB][hapmap]
rs11126370	1.00[CHB][hapmap]
rs11126373	1.00[CHB][hapmap]
rs11126374	1.00[CHB][hapmap]
rs11126376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11676555	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11677707	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11679683	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11684985	1.00[CHB][hapmap]
rs11685114	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11686713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11893504	0.84[EUR][1000 genomes]
rs12052508	1.00[CHB][hapmap]
rs12471136	1.00[CHB][hapmap]
rs12471312	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12476130	1.00[CHB][hapmap]
rs12476397	1.00[CHB][hapmap]
rs12618390	1.00[CHB][hapmap]
rs12713772	1.00[CHB][hapmap]
rs12713773	1.00[CHB][hapmap]
rs12713774	1.00[CHB][hapmap]
rs12992973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12996319	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs12996406	1.00[CHB][hapmap]
rs12998681	1.00[CHB][hapmap]
rs13006497	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13008041	1.00[CHB][hapmap]
rs13008258	1.00[CHB][hapmap]
rs13011477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1400581	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1400582	1.00[CHB][hapmap]
rs1446887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs1446888	1.00[CHB][hapmap]
rs1446890	1.00[CHB][hapmap]
rs1446891	1.00[CHB][hapmap]
rs1446892	1.00[CHB][hapmap]
rs1446893	1.00[CHB][hapmap]
rs1446895	1.00[CHB][hapmap]
rs1446896	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1508061	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1517181	1.00[CHB][hapmap]
rs1517185	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1596930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1596931	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1711838	1.00[CHB][hapmap]
rs1911690	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1947118	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2048171	1.00[CHB][hapmap]
rs2138683	1.00[CHB][hapmap]
rs2203679	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs2901146	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs3115351	1.00[CHB][hapmap]
rs4364045	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4852291	1.00[CHB][hapmap]
rs4852292	1.00[CHB][hapmap]
rs4852293	1.00[CHB][hapmap]
rs4852294	0.82[EUR][1000 genomes]
rs4852298	1.00[CHB][hapmap]
rs4852872	1.00[CHB][hapmap]
rs4852873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4852874	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4852875	1.00[CHB][hapmap]
rs4852876	1.00[CHB][hapmap]
rs4852877	1.00[CHB][hapmap]
rs4852878	1.00[CHB][hapmap]
rs4852879	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4852880	1.00[CHB][hapmap]
rs4852883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs4852886	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4852888	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4852889	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4852890	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4852891	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs583673	1.00[CHB][hapmap]
rs585653	1.00[CHB][hapmap]
rs585938	1.00[CHB][hapmap]
rs587744	1.00[CHB][hapmap]
rs589547	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs590252	1.00[CHB][hapmap]
rs590345	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs602465	1.00[CHB][hapmap]
rs614653	1.00[CHB][hapmap]
rs628432	1.00[CHB][hapmap]
rs630241	1.00[CHB][hapmap]
rs632670	1.00[CHB][hapmap]
rs634476	1.00[CHB][hapmap]
rs634574	1.00[CHB][hapmap]
rs634929	1.00[CHB][hapmap]
rs636734	1.00[CHB][hapmap]
rs638854	1.00[CHB][hapmap]
rs640610	1.00[CHB][hapmap]
rs641123	1.00[CHB][hapmap]
rs641939	1.00[CHB][hapmap]
rs642652	1.00[CHB][hapmap]
rs645489	1.00[CHB][hapmap]
rs646357	1.00[CHB][hapmap]
rs647242	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs647269	1.00[CHB][hapmap]
rs650352	1.00[CHB][hapmap]
rs653220	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs6546777	1.00[CHB][hapmap]
rs6546778	1.00[CHB][hapmap]
rs6546779	1.00[CHB][hapmap]
rs6546781	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs6546782	1.00[CHB][hapmap]
rs6546783	1.00[CHB][hapmap]
rs656370	1.00[CHB][hapmap]
rs656440	1.00[CHB][hapmap]
rs658067	1.00[CHB][hapmap]
rs659833	1.00[CHB][hapmap]
rs663218	1.00[CHB][hapmap]
rs666233	1.00[CHB][hapmap]
rs666361	1.00[CHB][hapmap]
rs6714595	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs671721	1.00[CHB][hapmap]
rs6724529	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6742312	1.00[CHB][hapmap]
rs6747378	1.00[CHB][hapmap]
rs674863	1.00[CHB][hapmap]
rs6750766	1.00[CHB][hapmap]
rs6758593	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs678684	1.00[CHB][hapmap]
rs680380	1.00[CHB][hapmap]
rs681574	1.00[CHB][hapmap]
rs683328	1.00[CHB][hapmap]
rs684673	1.00[CHB][hapmap]
rs687325	1.00[CHB][hapmap]
rs688433	1.00[CHB][hapmap]
rs689154	1.00[CHB][hapmap]
rs7420667	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7560529	1.00[CHB][hapmap]
rs7565198	1.00[CHB][hapmap]
rs7571064	1.00[CHB][hapmap]
rs7580268	1.00[CHB][hapmap]
rs7588400	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs7591025	1.00[CHB][hapmap]
rs7591303	1.00[CHB][hapmap]
rs7598238	1.00[CHB][hapmap]
rs7600273	0.82[EUR][1000 genomes]
rs7601020	1.00[CHB][hapmap]
rs7601318	1.00[CHB][hapmap]
rs983928	1.00[CHB][hapmap]
rs990569	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72775000-72808800	Weak transcription	Ovary	ovary
2	chr2:72784000-72800800	Weak transcription	Placenta	Placenta
3	chr2:72784200-72799600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:72786000-72803800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:72789200-72803600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:72789400-72803400	Weak transcription	Adipose Nuclei	Adipose
7	chr2:72789800-72799200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:72789800-72803600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:72790000-72797200	Weak transcription	HSMM	muscle
10	chr2:72790000-72798800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:72790000-72803200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:72790000-72804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:72790200-72801400	Weak transcription	HepG2	liver
14	chr2:72791000-72799400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:72795000-72797400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:72795200-72797200	Weak transcription	A549	lung
17	chr2:72795200-72803200	Weak transcription	Osteobl	bone
18	chr2:72795400-72797800	Weak transcription	Placenta Amnion	Placenta Amnion

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