Variant report

Variant	rs12987286
Chromosome Location	chr2:148663568-148663569
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1014064	1.00[CEU][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs1015096	0.96[CEU][hapmap]
rs1020653	0.88[EUR][1000 genomes]
rs1030317	0.91[EUR][1000 genomes]
rs10460259	1.00[CEU][hapmap];0.86[GIH][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs10497024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10803523	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs1128919	1.00[CEU][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes]
rs11884013	0.83[EUR][1000 genomes]
rs11886876	1.00[CEU][hapmap];0.84[GIH][hapmap];0.97[TSI][hapmap]
rs11888152	1.00[CEU][hapmap];0.86[GIH][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs11889608	0.93[EUR][1000 genomes]
rs11900506	0.88[CEU][hapmap];0.93[TSI][hapmap]
rs11901963	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs11904758	0.95[EUR][1000 genomes]
rs12053113	0.90[EUR][1000 genomes]
rs12053401	0.96[CEU][hapmap];0.83[GIH][hapmap]
rs12104822	0.89[EUR][1000 genomes]
rs12463798	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs12464617	0.93[EUR][1000 genomes]
rs12469015	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12469504	0.84[EUR][1000 genomes]
rs12469939	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12472058	0.83[EUR][1000 genomes]
rs12473564	0.82[JPT][hapmap];0.82[YRI][hapmap]
rs12475399	0.83[EUR][1000 genomes]
rs12479193	0.83[EUR][1000 genomes]
rs12989250	1.00[CEU][hapmap]
rs12989596	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12990262	0.88[EUR][1000 genomes]
rs12990959	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs12992412	0.87[CEU][hapmap]
rs12997065	0.84[EUR][1000 genomes]
rs12998729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13000597	0.94[EUR][1000 genomes]
rs13004041	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13004451	0.91[EUR][1000 genomes]
rs13005423	0.82[EUR][1000 genomes]
rs13006184	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13008497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13012311	0.91[EUR][1000 genomes]
rs13013743	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13013867	0.93[EUR][1000 genomes]
rs13013887	1.00[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap]
rs13014904	0.85[EUR][1000 genomes]
rs13014926	0.83[EUR][1000 genomes]
rs13016083	0.87[EUR][1000 genomes]
rs13017754	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13019386	0.86[EUR][1000 genomes]
rs13019809	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs13021605	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs13022319	0.83[EUR][1000 genomes]
rs13022962	0.96[CEU][hapmap]
rs13025219	0.91[EUR][1000 genomes]
rs13025589	0.93[EUR][1000 genomes]
rs13025701	0.83[EUR][1000 genomes]
rs13026220	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13026650	1.00[CEU][hapmap];0.82[JPT][hapmap];0.98[EUR][1000 genomes]
rs13027200	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13027706	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs13028348	0.96[CEU][hapmap]
rs13028411	0.93[EUR][1000 genomes]
rs13029038	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap]
rs13031064	0.93[EUR][1000 genomes]
rs13033589	0.91[EUR][1000 genomes]
rs13033696	1.00[CEU][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes]
rs13034494	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13034561	0.85[EUR][1000 genomes]
rs13034793	0.91[EUR][1000 genomes]
rs1345994	0.94[EUR][1000 genomes]
rs1364658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1364660	0.85[EUR][1000 genomes]
rs1424944	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1424946	0.85[EUR][1000 genomes]
rs1424949	0.83[EUR][1000 genomes]
rs1424954	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1469210	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.97[EUR][1000 genomes]
rs1531032	1.00[CEU][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs1598207	0.91[CEU][hapmap]
rs16855486	0.85[EUR][1000 genomes]
rs1863152	0.88[CEU][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs1863153	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs1895693	0.94[EUR][1000 genomes]
rs1975748	0.96[CEU][hapmap]
rs1991169	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs2059422	0.92[EUR][1000 genomes]
rs2113793	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs2161983	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs2161984	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs2161985	0.84[EUR][1000 genomes]
rs2288190	0.84[CEU][hapmap]
rs2303392	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs2307394	1.00[CEU][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs2382201	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap]
rs34005843	0.85[EUR][1000 genomes]
rs34539489	0.93[EUR][1000 genomes]
rs35370215	0.84[EUR][1000 genomes]
rs3764955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3768687	1.00[CEU][hapmap];0.82[JPT][hapmap];0.98[EUR][1000 genomes]
rs3768689	1.00[CEU][hapmap];0.82[JPT][hapmap];0.98[EUR][1000 genomes]
rs4972272	0.83[EUR][1000 genomes]
rs4972316	0.85[EUR][1000 genomes]
rs4972317	0.91[EUR][1000 genomes]
rs4972318	0.91[EUR][1000 genomes]
rs4972356	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4972357	0.92[EUR][1000 genomes]
rs57679331	0.93[EUR][1000 genomes]
rs6430241	0.83[EUR][1000 genomes]
rs6430242	0.83[EUR][1000 genomes]
rs6711673	0.96[CEU][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes]
rs6729465	0.93[EUR][1000 genomes]
rs6729997	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6734998	0.88[CEU][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs6760703	0.90[EUR][1000 genomes]
rs723681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7559714	0.95[EUR][1000 genomes]
rs7559925	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7594075	0.93[EUR][1000 genomes]
rs7598361	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs7600869	0.83[EUR][1000 genomes]
rs897172	0.96[CEU][hapmap];0.86[GIH][hapmap];0.97[TSI][hapmap]
rs929939	0.92[CEU][hapmap];0.86[GIH][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs9679427	0.83[EUR][1000 genomes]
rs987122	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

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	chr2:148642600-148668200	Weak transcription	Psoas Muscle	Psoas
4	chr2:148642800-148668200	Weak transcription	Fetal Lung	lung
5	chr2:148642800-148670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:148642800-148674600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:148643200-148663800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:148645600-148671000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:148645800-148671400	Weak transcription	Fetal Heart	heart
10	chr2:148646200-148684400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:148646600-148663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:148646600-148668400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:148646600-148671200	Weak transcription	HMEC	breast
14	chr2:148646600-148691000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:148647200-148719600	Weak transcription	Pancreas	Pancrea
16	chr2:148649600-148674800	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:148650200-148719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:148651200-148691600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:148652800-148690000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:148652800-148693600	Weak transcription	Lung	lung
21	chr2:148653200-148692000	Weak transcription	Ovary	ovary
22	chr2:148653200-148719600	Weak transcription	Esophagus	oesophagus
23	chr2:148653600-148671000	Weak transcription	Osteobl	bone
24	chr2:148653600-148671400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:148653600-148673400	Weak transcription	HepG2	liver
26	chr2:148653800-148671600	Weak transcription	Fetal Stomach	stomach
27	chr2:148653800-148672800	Weak transcription	Liver	Liver
28	chr2:148654000-148690000	Weak transcription	Primary T cells from cord blood	blood
29	chr2:148654400-148664400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:148655200-148674800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:148655400-148671600	Weak transcription	Brain Angular Gyrus	brain
32	chr2:148655800-148671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:148655800-148671200	Weak transcription	Fetal Brain Male	brain
34	chr2:148656000-148668800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:148656200-148676800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:148657800-148674400	Weak transcription	Fetal Kidney	kidney
37	chr2:148657800-148674400	Weak transcription	Left Ventricle	heart
38	chr2:148657800-148683000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:148658000-148668400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:148658000-148671600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:148658000-148672600	Weak transcription	Fetal Intestine Large	intestine
42	chr2:148658200-148663800	Weak transcription	HSMM	muscle
43	chr2:148658200-148664000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:148658200-148668200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:148658200-148668200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:148658200-148668200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:148658600-148663800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:148658600-148670800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:148658600-148674400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:148658800-148741600	Weak transcription	Aorta	Aorta

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