Variant report

Variant	rs7572948
Chromosome Location	chr2:148992803-148992804
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10206569	0.82[ASN][1000 genomes]
rs10210377	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10432369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10928388	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10928389	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10928390	0.82[ASN][1000 genomes]
rs1120671	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11675979	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11676308	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11678688	0.88[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11683219	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11685302	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11692246	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12053104	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12470061	0.83[EUR][1000 genomes]
rs12691780	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12691781	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13001946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022005	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027785	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13032996	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13392141	0.82[ASN][1000 genomes]
rs13425594	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1449960	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1453318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17274896	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17276501	0.81[EUR][1000 genomes]
rs1869341	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2044760	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2044761	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2084954	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2167127	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602358	0.82[EUR][1000 genomes]
rs2656319	0.82[EUR][1000 genomes]
rs2656320	0.82[EUR][1000 genomes]
rs2656324	0.82[EUR][1000 genomes]
rs2839755	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2890917	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35042809	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35749985	0.81[ASN][1000 genomes]
rs4399670	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4972276	0.92[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs4972277	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4972278	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4972338	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4972341	0.82[ASN][1000 genomes]
rs4972347	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4972355	0.83[EUR][1000 genomes]
rs6430305	0.89[CEU][hapmap];0.92[CHB][hapmap];0.80[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6721794	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6746932	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7570104	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs949679	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs961207	0.89[EUR][1000 genomes]
rs987625	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs987626	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs991554	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv875276	chr2:148844369-148996824	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv997674	chr2:148862630-148995570	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1007998	chr2:148866051-148995570	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148928600-148993600	Weak transcription	HSMM	muscle
2	chr2:148931200-148993200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:148959400-148993400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:148966000-148994400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:148972400-148993000	Weak transcription	NHDF-Ad	bronchial
6	chr2:148980200-148993800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:148981400-148996600	Weak transcription	Psoas Muscle	Psoas
8	chr2:148982600-148993600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:148983600-148993800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:148983600-148996000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:148984400-149011800	Weak transcription	Gastric	stomach
12	chr2:148984800-149011800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:148985000-148994200	Weak transcription	Fetal Kidney	kidney
14	chr2:148985400-148993600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:148985400-149011200	Weak transcription	Pancreas	Pancrea
16	chr2:148985600-148993400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:148985600-148994000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:148985600-148994200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:148985800-148993600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:148986000-149002200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:148986200-148993000	Weak transcription	Fetal Thymus	thymus
22	chr2:148986200-148993200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:148986200-148993600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:148986200-148994400	Weak transcription	Liver	Liver
25	chr2:148986400-148994000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:148986600-148993000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:148986600-148993200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:148986600-148994000	Weak transcription	Fetal Brain Male	brain
29	chr2:148986800-148993600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:148986800-149011600	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:148987400-148994000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:148987600-148993200	Weak transcription	Fetal Lung	lung
33	chr2:148987600-148993400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:148987600-148993600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:148987600-148993800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:148987600-148996200	Weak transcription	Esophagus	oesophagus
37	chr2:148987600-148997200	Weak transcription	Lung	lung
38	chr2:148987800-148993200	Weak transcription	Ovary	ovary
39	chr2:148987800-148993600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:148987800-148993600	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:148987800-148993600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr2:148987800-148994600	Weak transcription	Thymus	Thymus
43	chr2:148988000-148993800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:148988000-148993800	Weak transcription	Adipose Nuclei	Adipose
45	chr2:148988000-148994200	Weak transcription	Dnd41	blood
46	chr2:148988200-148993600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:148988200-148994600	Weak transcription	HUVEC	blood vessel
48	chr2:148988400-148993400	Weak transcription	Fetal Intestine Large	intestine
49	chr2:148988400-148993800	Weak transcription	Fetal Brain Female	brain
50	chr2:148988800-148993200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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