Variant report

Variant	rs1895693
Chromosome Location	chr2:148636993-148636994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1014064	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1020653	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1030317	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10460259	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10497024	0.97[EUR][1000 genomes]
rs10803523	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1128919	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11884013	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11888152	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11889608	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11901963	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11904758	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12053113	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12104822	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12463798	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12464617	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12469015	0.88[EUR][1000 genomes]
rs12469504	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12469939	0.90[EUR][1000 genomes]
rs12472058	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12475399	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12479193	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12987286	0.94[EUR][1000 genomes]
rs12989087	0.81[AFR][1000 genomes]
rs12989596	0.90[EUR][1000 genomes]
rs12990262	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12990959	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12997065	0.86[EUR][1000 genomes]
rs12998729	0.98[EUR][1000 genomes]
rs13000597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13004041	0.90[EUR][1000 genomes]
rs13004451	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13005423	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13006184	0.90[EUR][1000 genomes]
rs13008497	0.94[EUR][1000 genomes]
rs13012311	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13013743	0.94[EUR][1000 genomes]
rs13013867	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13014904	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13014926	0.89[EUR][1000 genomes]
rs13016083	0.88[EUR][1000 genomes]
rs13017754	0.94[EUR][1000 genomes]
rs13019386	0.87[EUR][1000 genomes]
rs13019809	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021972	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13022319	0.85[EUR][1000 genomes]
rs13025219	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13025589	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13025701	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13026220	0.94[EUR][1000 genomes]
rs13026650	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13027200	0.90[EUR][1000 genomes]
rs13027706	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13028411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13031064	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13033589	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13033696	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13034494	0.98[EUR][1000 genomes]
rs13034561	0.87[EUR][1000 genomes]
rs13034793	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1345994	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1364658	0.96[EUR][1000 genomes]
rs1364660	0.86[EUR][1000 genomes]
rs1424944	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1424946	0.87[EUR][1000 genomes]
rs1424949	0.88[EUR][1000 genomes]
rs1424954	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1469210	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1531032	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16855486	0.87[EUR][1000 genomes]
rs1863152	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1863153	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1991169	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2059422	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2161983	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161985	0.85[EUR][1000 genomes]
rs2288190	0.97[ASN][1000 genomes]
rs2303392	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2307394	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34005843	0.87[EUR][1000 genomes]
rs34539489	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35370215	0.85[EUR][1000 genomes]
rs3764955	0.95[EUR][1000 genomes]
rs3768687	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3768689	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3926960	0.82[EUR][1000 genomes]
rs4419186	0.81[AFR][1000 genomes]
rs4972272	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4972316	0.87[EUR][1000 genomes]
rs4972317	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4972318	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4972356	0.94[EUR][1000 genomes]
rs4972357	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57679331	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6430241	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6430242	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6711673	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6729465	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6729997	0.95[EUR][1000 genomes]
rs6734998	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6760703	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs723681	0.95[EUR][1000 genomes]
rs7423878	0.89[AMR][1000 genomes]
rs7559714	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7559925	0.98[EUR][1000 genomes]
rs7594075	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7600869	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs929939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9679427	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs987122	0.92[AFR][1000 genomes];0.89[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148613000-148640800	Weak transcription	Lung	lung
2	chr2:148620800-148640000	Weak transcription	Adipose Nuclei	Adipose
3	chr2:148621400-148637000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:148621600-148641600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:148623600-148642600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:148625600-148638200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:148625800-148638400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:148626000-148637000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:148626600-148639800	Weak transcription	Left Ventricle	heart
10	chr2:148628200-148639800	Weak transcription	Right Atrium	heart
11	chr2:148634400-148638600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:148634600-148638400	Weak transcription	Psoas Muscle	Psoas
13	chr2:148634600-148638400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:148634600-148638600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:148634600-148641200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:148634600-148641800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:148634600-148641800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:148634600-148642400	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:148634600-148642800	Weak transcription	Ovary	ovary
20	chr2:148634600-148668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:148634800-148638200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:148635000-148638800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:148635200-148637200	Weak transcription	Stomach Mucosa	stomach
24	chr2:148635200-148640400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:148635200-148641800	Weak transcription	Liver	Liver
26	chr2:148635400-148637200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:148635400-148638400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:148635600-148645800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:148635800-148638600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:148636000-148640000	Weak transcription	Fetal Lung	lung
31	chr2:148636200-148637200	Enhancers	Small Intestine	intestine
32	chr2:148636200-148637200	Enhancers	HepG2	liver
33	chr2:148636200-148639400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:148636600-148637400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:148636600-148637400	Enhancers	Fetal Intestine Large	intestine
36	chr2:148636600-148638400	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:148636800-148637000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr2:148636800-148637000	Enhancers	Right Ventricle	heart
39	chr2:148636800-148637400	Enhancers	Duodenum Mucosa	Duodenum
40	chr2:148636800-148637400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:148636800-148638800	Enhancers	Fetal Intestine Small	intestine

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