Variant report

Variant	rs2161983
Chromosome Location	chr2:148649386-148649387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs1014064	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1015096	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs1020653	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1030317	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10460259	0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10497024	0.96[CEU][hapmap];0.98[EUR][1000 genomes]
rs10803523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1128919	0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11884013	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11886876	0.96[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap]
rs11888152	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11889608	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11900506	0.92[CEU][hapmap];0.95[YRI][hapmap]
rs11901963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11904758	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12053113	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12053401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs12104822	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12105745	0.90[YRI][hapmap]
rs1234416	0.86[YRI][hapmap]
rs12463798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12464617	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12469015	0.89[EUR][1000 genomes]
rs12469504	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12469939	0.91[EUR][1000 genomes]
rs12472058	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12475399	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12479193	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12987286	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs12989250	0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap]
rs12989596	0.89[EUR][1000 genomes]
rs12990262	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12990959	0.92[CEU][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12992412	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs12997065	0.85[EUR][1000 genomes]
rs12998729	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs13000597	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13004041	0.91[EUR][1000 genomes]
rs13004451	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13005423	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13006184	0.91[EUR][1000 genomes]
rs13008497	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs13012311	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13013743	0.93[EUR][1000 genomes]
rs13013867	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13014904	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13014926	0.88[EUR][1000 genomes]
rs13016083	0.87[EUR][1000 genomes]
rs13016400	0.91[YRI][hapmap]
rs13017754	0.93[EUR][1000 genomes]
rs13019386	0.86[EUR][1000 genomes]
rs13019809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021605	0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap]
rs13021972	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13022319	0.84[EUR][1000 genomes]
rs13022962	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap]
rs13025219	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13025589	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13025701	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13026220	0.93[EUR][1000 genomes]
rs13026650	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13027200	0.91[EUR][1000 genomes]
rs13027706	0.96[CEU][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13028348	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs13028411	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13029038	0.83[CEU][hapmap]
rs13031064	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13033589	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13033696	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13034494	0.97[EUR][1000 genomes]
rs13034561	0.85[EUR][1000 genomes]
rs13034793	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1345994	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1364658	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs1364660	0.85[EUR][1000 genomes]
rs1424944	0.95[CEU][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1424946	0.85[EUR][1000 genomes]
rs1424949	0.87[EUR][1000 genomes]
rs1424954	0.96[CEU][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1469210	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1531032	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1598207	0.88[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap]
rs16855486	0.85[EUR][1000 genomes]
rs1863152	0.92[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1863153	0.92[CEU][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1895693	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1975748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap]
rs1991169	0.92[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2059422	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2113793	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap]
rs2161984	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap]
rs2161985	0.84[EUR][1000 genomes]
rs2288190	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2303392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2307394	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2382201	0.96[CEU][hapmap]
rs34005843	0.85[EUR][1000 genomes]
rs34539489	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35370215	0.84[EUR][1000 genomes]
rs3764955	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs3768687	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3768689	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3820716	0.91[YRI][hapmap]
rs3926960	0.80[EUR][1000 genomes]
rs4419186	0.90[YRI][hapmap]
rs4972272	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4972316	0.86[EUR][1000 genomes]
rs4972317	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4972318	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4972322	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs4972356	0.93[EUR][1000 genomes]
rs4972357	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57679331	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6430241	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6430242	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6711673	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6729465	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6729997	0.97[EUR][1000 genomes]
rs6734998	0.92[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6760703	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs723681	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs7423878	0.88[AMR][1000 genomes]
rs7559714	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7559925	0.97[EUR][1000 genomes]
rs7594075	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7598361	0.96[CEU][hapmap]
rs7600869	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs897172	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs929939	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9679427	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs987122	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3405592	chr2:148641025-148650069	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148634600-148668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
3	chr2:148637400-148654800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:148639000-148654800	Weak transcription	Fetal Intestine Large	intestine
5	chr2:148642600-148668200	Weak transcription	Psoas Muscle	Psoas
6	chr2:148642800-148657000	Weak transcription	Fetal Kidney	kidney
7	chr2:148642800-148668200	Weak transcription	Fetal Lung	lung
8	chr2:148642800-148670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:148642800-148674600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:148643200-148660000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:148643200-148663800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:148644800-148657200	Weak transcription	Left Ventricle	heart
13	chr2:148645600-148671000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:148645800-148657200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:148645800-148671400	Weak transcription	Fetal Heart	heart
16	chr2:148646000-148660600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:148646200-148684400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:148646400-148657200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:148646600-148650600	Weak transcription	Liver	Liver
20	chr2:148646600-148657200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:148646600-148663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:148646600-148668400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:148646600-148671200	Weak transcription	HMEC	breast
24	chr2:148646600-148691000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:148646800-148657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:148646800-148657600	Weak transcription	Adipose Nuclei	Adipose
27	chr2:148647000-148655000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:148647000-148657200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:148647200-148719600	Weak transcription	Pancreas	Pancrea
30	chr2:148649200-148657000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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