Variant report

Variant	rs10168627
Chromosome Location	chr2:148993486-148993487
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10084286	1.00[AMR][1000 genomes]
rs10169814	1.00[AMR][1000 genomes]
rs10172107	0.89[AFR][1000 genomes]
rs10172459	0.89[AFR][1000 genomes]
rs10172623	1.00[AMR][1000 genomes]
rs10172638	1.00[AMR][1000 genomes]
rs10174213	1.00[AMR][1000 genomes]
rs10174231	1.00[AMR][1000 genomes]
rs10174899	0.89[AFR][1000 genomes]
rs10175126	0.89[AFR][1000 genomes]
rs10179991	0.89[AFR][1000 genomes]
rs10180813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10181040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10181462	0.89[AFR][1000 genomes]
rs10186976	0.89[AFR][1000 genomes]
rs10187257	0.89[AFR][1000 genomes]
rs10189852	0.89[AFR][1000 genomes]
rs10191867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10195846	1.00[AMR][1000 genomes]
rs10197288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10199100	0.89[AFR][1000 genomes]
rs10199661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206286	0.89[AFR][1000 genomes]
rs10211580	1.00[AMR][1000 genomes]
rs13385606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13385697	0.89[AFR][1000 genomes]
rs13386143	1.00[AMR][1000 genomes]
rs13387197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13395948	1.00[AMR][1000 genomes]
rs13396012	1.00[AMR][1000 genomes]
rs13397712	0.89[AFR][1000 genomes]
rs13399551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401666	1.00[AMR][1000 genomes]
rs13403934	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404496	1.00[AMR][1000 genomes]
rs13404809	1.00[AMR][1000 genomes]
rs13417167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13420788	0.89[AFR][1000 genomes]
rs13422826	0.89[AFR][1000 genomes]
rs13426081	0.89[AFR][1000 genomes]
rs13426527	1.00[AMR][1000 genomes]
rs28405957	0.89[AFR][1000 genomes]
rs28594070	0.89[AFR][1000 genomes]
rs28647742	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28801194	1.00[AMR][1000 genomes]

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	chr2:148966000-148994400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:148980200-148993800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:148981400-148996600	Weak transcription	Psoas Muscle	Psoas
5	chr2:148982600-148993600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:148983600-148993800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:148983600-148996000	Weak transcription	Brain Angular Gyrus	brain
8	chr2:148984400-149011800	Weak transcription	Gastric	stomach
9	chr2:148984800-149011800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:148985000-148994200	Weak transcription	Fetal Kidney	kidney
11	chr2:148985400-148993600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:148985400-149011200	Weak transcription	Pancreas	Pancrea
13	chr2:148985600-148994000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:148985600-148994200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:148985800-148993600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:148986000-149002200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:148986200-148993600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:148986200-148994400	Weak transcription	Liver	Liver
19	chr2:148986400-148994000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:148986600-148994000	Weak transcription	Fetal Brain Male	brain
21	chr2:148986800-148993600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:148986800-149011600	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:148987400-148994000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:148987600-148993600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:148987600-148993800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:148987600-148996200	Weak transcription	Esophagus	oesophagus
27	chr2:148987600-148997200	Weak transcription	Lung	lung
28	chr2:148987800-148993600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:148987800-148993600	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:148987800-148993600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:148987800-148994600	Weak transcription	Thymus	Thymus
32	chr2:148988000-148993800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:148988000-148993800	Weak transcription	Adipose Nuclei	Adipose
34	chr2:148988000-148994200	Weak transcription	Dnd41	blood
35	chr2:148988200-148993600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:148988200-148994600	Weak transcription	HUVEC	blood vessel
37	chr2:148988400-148993800	Weak transcription	Fetal Brain Female	brain
38	chr2:148988800-148994800	Weak transcription	Aorta	Aorta
39	chr2:148989000-148993600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:148989000-148997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:148989200-149000200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:148989400-148994200	Weak transcription	Small Intestine	intestine
43	chr2:148989600-148993800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:148989800-148993600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:148989800-148994400	Weak transcription	Right Ventricle	heart
46	chr2:148990200-148994200	Weak transcription	NH-A	brain
47	chr2:148990200-148994400	Weak transcription	HepG2	liver
48	chr2:148990200-149011400	Weak transcription	Spleen	Spleen
49	chr2:148990400-148994400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:148990400-148997200	Weak transcription	Brain Anterior Caudate	brain

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