Variant report

Variant	rs10175852
Chromosome Location	chr2:100055033-100055034
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10173883	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176205	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179343	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179697	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180138	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180688	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182492	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10186223	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191001	0.88[ASN][1000 genomes]
rs10207435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210346	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496337	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123776	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123778	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123783	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12162367	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12617324	0.84[EUR][1000 genomes]
rs12623835	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989521	0.83[EUR][1000 genomes]
rs12992356	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13001438	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13017843	0.87[EUR][1000 genomes]
rs13028722	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384665	0.94[ASN][1000 genomes]
rs13394927	0.85[EUR][1000 genomes]
rs13401163	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402784	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13405400	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409359	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415713	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13416265	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419448	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420087	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420293	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13426758	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427424	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429185	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429806	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13430662	0.81[ASN][1000 genomes]
rs13430962	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431410	0.87[EUR][1000 genomes]
rs13432046	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376444	0.86[EUR][1000 genomes]
rs17022653	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17022663	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1882598	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922625	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1922627	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1948101	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2309577	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309615	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2309616	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28369929	0.81[EUR][1000 genomes]
rs28369949	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382945	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382947	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382955	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28745279	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3087399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792151	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3828162	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522654	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4850902	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851197	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4851199	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4851201	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542877	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6706425	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712137	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721031	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726711	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744199	0.82[EUR][1000 genomes]
rs6745645	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749029	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72815074	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72815086	0.82[EUR][1000 genomes]
rs72817011	0.83[EUR][1000 genomes]
rs7567230	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7567462	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7569805	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579143	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579171	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581337	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7582085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584022	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584705	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7585532	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7599384	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599843	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7603388	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7606279	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9308819	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9308821	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308822	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308823	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973846	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1014161	chr2:100021040-100063406	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99999400-100056800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:100005800-100062600	Strong transcription	Dnd41	blood
3	chr2:100005800-100066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:100021200-100077800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:100022200-100059000	Strong transcription	Liver	Liver
7	chr2:100032600-100078000	Weak transcription	Psoas Muscle	Psoas
8	chr2:100034000-100055200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:100034200-100088800	Weak transcription	Small Intestine	intestine
10	chr2:100036800-100074800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:100038200-100055200	Weak transcription	Gastric	stomach
12	chr2:100038200-100063200	Weak transcription	Fetal Intestine Small	intestine
13	chr2:100038200-100073800	Weak transcription	Esophagus	oesophagus
14	chr2:100040000-100055200	Weak transcription	Colonic Mucosa	Colon
15	chr2:100041000-100055400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:100041000-100056600	Weak transcription	Fetal Brain Male	brain
17	chr2:100041200-100055200	Weak transcription	Brain Angular Gyrus	brain
18	chr2:100041400-100055200	Weak transcription	Aorta	Aorta
19	chr2:100041400-100077800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:100041600-100083400	Weak transcription	Brain Substantia Nigra	brain
21	chr2:100042800-100065000	Weak transcription	Lung	lung
22	chr2:100044800-100055200	Weak transcription	Right Ventricle	heart
23	chr2:100044800-100055400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:100045000-100064200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:100045400-100068200	Weak transcription	Ovary	ovary
26	chr2:100047800-100063200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:100048200-100055200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:100048200-100090600	Weak transcription	Stomach Mucosa	stomach
29	chr2:100048400-100055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:100048400-100055200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:100048400-100055200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:100048400-100055200	Weak transcription	Left Ventricle	heart
33	chr2:100048400-100055200	Weak transcription	Pancreas	Pancrea
34	chr2:100048400-100055200	Weak transcription	Thymus	Thymus
35	chr2:100048400-100067800	Weak transcription	Fetal Heart	heart
36	chr2:100048600-100055200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:100048600-100055200	Weak transcription	Fetal Stomach	stomach
38	chr2:100048600-100055200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:100048600-100064000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:100048600-100068200	Weak transcription	Spleen	Spleen
41	chr2:100048800-100055200	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:100048800-100070400	Weak transcription	Fetal Brain Female	brain
43	chr2:100049600-100055200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:100050000-100065000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:100051800-100056000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:100051800-100064600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:100052600-100055200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:100052600-100055600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr2:100052600-100056000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:100052600-100059200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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