Variant report

Variant	rs725379
Chromosome Location	chr2:211323397-211323398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10195342	0.86[EUR][1000 genomes]
rs1027901	0.82[EUR][1000 genomes]
rs1044708	0.86[EUR][1000 genomes]
rs10490318	0.81[CHB][hapmap]
rs10804182	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10804183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10804185	0.81[CHB][hapmap]
rs11690895	0.89[ASN][1000 genomes]
rs11889228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11894867	0.82[EUR][1000 genomes]
rs11896108	0.83[EUR][1000 genomes]
rs11900468	0.82[EUR][1000 genomes]
rs12466705	0.81[CHB][hapmap]
rs12469589	0.82[EUR][1000 genomes]
rs12473150	0.81[EUR][1000 genomes]
rs12477237	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12611623	0.81[CHB][hapmap]
rs1350463	0.82[EUR][1000 genomes]
rs16844534	0.81[CHB][hapmap]
rs17771664	0.90[CHB][hapmap]
rs17772042	0.80[CHB][hapmap]
rs17822981	0.81[CHB][hapmap]
rs1812875	0.83[EUR][1000 genomes]
rs2287424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287425	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287431	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2287432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287433	0.89[CEU][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2370949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2370956	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs2887899	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35314871	0.81[EUR][1000 genomes]
rs3755184	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770689	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3770694	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770695	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3770699	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3821136	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs3845633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3856339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4372818	0.81[CHB][hapmap]
rs4467201	0.85[EUR][1000 genomes]
rs4609985	0.82[EUR][1000 genomes]
rs4673526	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4673528	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4673529	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6435568	0.80[EUR][1000 genomes]
rs6435569	0.85[EUR][1000 genomes]
rs6711129	0.81[CHB][hapmap]
rs6717228	0.81[EUR][1000 genomes]
rs6725303	0.81[CHB][hapmap]
rs6725770	0.81[CHB][hapmap]
rs6727182	0.86[ASN][1000 genomes]
rs6729280	0.81[CHB][hapmap]
rs6745925	0.80[EUR][1000 genomes]
rs6752320	0.81[CHB][hapmap]
rs6756422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930503	1.00[ASN][1000 genomes]
rs72930539	0.94[ASN][1000 genomes]
rs7578688	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595022	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875767	chr2:211119233-211334647	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv3147	chr2:211281479-211326844	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211293800-211335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:211294800-211333200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:211295000-211330400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:211295000-211336000	Weak transcription	Colonic Mucosa	Colon
5	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
6	chr2:211296000-211340200	Weak transcription	Small Intestine	intestine
7	chr2:211296400-211341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:211297800-211336200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:211299800-211330000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:211300200-211326000	Weak transcription	NHDF-Ad	bronchial
11	chr2:211300400-211329800	Weak transcription	A549	lung
12	chr2:211301200-211325400	Weak transcription	Esophagus	oesophagus
13	chr2:211301200-211330000	Weak transcription	Gastric	stomach
14	chr2:211301200-211340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:211301200-211340600	Weak transcription	Fetal Intestine Small	intestine
16	chr2:211301200-211340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:211301400-211330000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:211301400-211330800	Weak transcription	Right Ventricle	heart
19	chr2:211301400-211334400	Weak transcription	NHEK	skin
20	chr2:211301400-211336000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:211305600-211326600	Weak transcription	Brain Germinal Matrix	brain
22	chr2:211306000-211330000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:211306200-211326800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:211308000-211332400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:211314200-211328800	Strong transcription	Primary T cells from cord blood	blood
26	chr2:211314400-211327000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr2:211315400-211327200	Strong transcription	Primary hematopoietic stem cells	blood
28	chr2:211315400-211340000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:211315600-211323400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:211315600-211323400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:211315600-211325600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:211315600-211337800	Strong transcription	Fetal Thymus	thymus
33	chr2:211315600-211339600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:211315800-211337200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:211315800-211337800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:211316000-211338000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:211316200-211324600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:211316200-211325400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:211316200-211326800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:211316200-211337800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:211316200-211337800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:211316400-211323400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:211316400-211324600	Strong transcription	Adipose Nuclei	Adipose
44	chr2:211316400-211327200	Strong transcription	Fetal Intestine Large	intestine
45	chr2:211316600-211339000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:211316800-211323600	Strong transcription	Liver	Liver
47	chr2:211316800-211327200	Strong transcription	Fetal Lung	lung
48	chr2:211316800-211338800	Strong transcription	Dnd41	blood
49	chr2:211317000-211326200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr2:211318000-211337800	Strong transcription	Stomach Smooth Muscle	stomach

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