Variant report

Variant	rs12031765
Chromosome Location	chr1:93720597-93720598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1081522	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10874766	0.84[ASN][1000 genomes]
rs1088318	0.80[ASN][1000 genomes]
rs11164885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164896	0.82[ASN][1000 genomes]
rs11164897	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11164908	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12027142	0.87[ASN][1000 genomes]
rs12030843	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031709	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12044557	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12045001	0.82[ASN][1000 genomes]
rs12046063	0.87[ASN][1000 genomes]
rs12048219	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12405487	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12563120	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12563709	0.82[ASN][1000 genomes]
rs12566752	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1537758	0.97[EUR][1000 genomes]
rs1967721	0.87[EUR][1000 genomes]
rs2391251	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2783489	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2783499	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2783500	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2783501	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2783504	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2815415	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28782525	0.89[ASN][1000 genomes]
rs2893242	0.89[ASN][1000 genomes]
rs35628716	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35910103	0.82[ASN][1000 genomes]
rs35915989	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754186	0.82[ASN][1000 genomes]
rs3904665	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3904666	0.89[ASN][1000 genomes]
rs4484937	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs531514	0.83[ASN][1000 genomes]
rs535760	0.80[ASN][1000 genomes]
rs547866	0.80[ASN][1000 genomes]
rs565919	0.81[ASN][1000 genomes]
rs58354545	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602204	0.80[ASN][1000 genomes]
rs61266405	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61799496	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61799497	0.87[ASN][1000 genomes]
rs61799500	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61799516	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61799517	0.82[ASN][1000 genomes]
rs622608	0.83[ASN][1000 genomes]
rs637646	0.83[ASN][1000 genomes]
rs6541349	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6676902	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6684908	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs682514	0.83[ASN][1000 genomes]
rs687394	0.83[ASN][1000 genomes]
rs693737	0.80[ASN][1000 genomes]
rs698927	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72959220	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512911	0.83[ASN][1000 genomes]
rs771458	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs771462	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs771478	0.80[ASN][1000 genomes]
rs771481	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs797666	0.81[ASN][1000 genomes]
rs797668	0.80[ASN][1000 genomes]
rs797671	0.81[ASN][1000 genomes]
rs797672	0.83[ASN][1000 genomes]
rs797681	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93756400	Weak transcription	Gastric	stomach
2	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:93666600-93727000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:93690400-93729400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:93691200-93732400	Weak transcription	HUVEC	blood vessel
6	chr1:93692200-93787800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:93704200-93729800	Weak transcription	Hela-S3	cervix
8	chr1:93706400-93727000	Weak transcription	K562	blood
9	chr1:93707000-93727400	Weak transcription	Liver	Liver
10	chr1:93709000-93720800	Weak transcription	Osteobl	bone
11	chr1:93709000-93724200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:93709000-93726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:93709000-93727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:93709000-93728200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:93709000-93728200	Weak transcription	HMEC	breast
16	chr1:93709200-93727400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:93709400-93727600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:93709600-93725000	Weak transcription	HepG2	liver
19	chr1:93709600-93725600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:93709600-93727000	Weak transcription	NHEK	skin
21	chr1:93709800-93727000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:93709800-93727000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:93710000-93721600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:93710000-93727000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:93710200-93721800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:93710200-93722200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:93710200-93724200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:93710200-93727000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:93710600-93724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:93711600-93727000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:93713200-93727000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:93713400-93721600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:93715200-93720800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:93716200-93728400	Weak transcription	Pancreas	Pancrea
35	chr1:93716800-93727600	Weak transcription	Fetal Kidney	kidney
36	chr1:93717200-93726200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:93717800-93725600	Strong transcription	Dnd41	blood
38	chr1:93717800-93727800	Weak transcription	Ovary	ovary
39	chr1:93718200-93727000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:93718400-93727000	Weak transcription	Fetal Lung	lung
41	chr1:93718400-93727000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:93718600-93720600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:93718600-93720800	Weak transcription	Fetal Thymus	thymus
44	chr1:93718600-93727000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:93718600-93727800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:93718600-93728200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:93718800-93721000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:93718800-93724400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:93718800-93727000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:93718800-93727400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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