Variant report

Variant	rs12187149
Chromosome Location	chr5:118876204-118876205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118872062..118874467-chr5:118875456..118877548,2	K562	blood:
2	chr5:118868196..118870095-chr5:118875556..118878228,2	K562	blood:
3	chr5:118872062..118875418-chr5:118875456..118880778,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10064000	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11205	0.88[ASN][1000 genomes]
rs11241507	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1155777	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11949608	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1490756	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs150938	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs154596	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs161853	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs161854	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs161855	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1620133	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1651227	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs165995	0.96[ASN][1000 genomes]
rs17145464	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs246968	0.93[ASN][1000 genomes]
rs257969	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs257980	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2914210	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3797368	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3797372	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3822527	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3933553	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7716785	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882776	chr5:118859546-118915408	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv882777	chr5:118870452-118981480	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:118832400-118878200	Weak transcription	NH-A	brain
3	chr5:118840200-118878400	Weak transcription	Psoas Muscle	Psoas
4	chr5:118841000-118880000	Weak transcription	Brain Germinal Matrix	brain
5	chr5:118841200-118880000	Weak transcription	A549	lung
6	chr5:118846800-118878200	Weak transcription	NHLF	lung
7	chr5:118847200-118877800	Weak transcription	Small Intestine	intestine
8	chr5:118847200-118878200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:118847200-118879800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:118847400-118878200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:118847400-118879800	Weak transcription	HSMMtube	muscle
12	chr5:118847600-118877600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:118847600-118878200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:118847600-118879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:118851800-118876400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr5:118852800-118878200	Weak transcription	Aorta	Aorta
17	chr5:118853000-118880200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:118853400-118878200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:118853400-118878200	Weak transcription	Esophagus	oesophagus
20	chr5:118853400-118878200	Weak transcription	Gastric	stomach
21	chr5:118854400-118877600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:118854400-118878400	Weak transcription	Spleen	Spleen
23	chr5:118854400-118879600	Weak transcription	Fetal Kidney	kidney
24	chr5:118854400-118880600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:118854800-118877600	Weak transcription	Fetal Intestine Small	intestine
26	chr5:118854800-118878200	Weak transcription	Thymus	Thymus
27	chr5:118855400-118876400	Weak transcription	Lung	lung
28	chr5:118855600-118878200	Weak transcription	Fetal Stomach	stomach
29	chr5:118856200-118878400	Weak transcription	Right Ventricle	heart
30	chr5:118857200-118878200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:118860600-118879200	Strong transcription	Liver	Liver
32	chr5:118861400-118879800	Weak transcription	HepG2	liver
33	chr5:118861600-118878600	Weak transcription	Hela-S3	cervix
34	chr5:118862000-118879800	Weak transcription	HSMM	muscle
35	chr5:118862000-118880200	Weak transcription	Fetal Lung	lung
36	chr5:118863600-118879200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:118864000-118878200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr5:118864000-118878200	Weak transcription	Osteobl	bone
39	chr5:118864200-118876400	Weak transcription	Brain Angular Gyrus	brain
40	chr5:118864200-118879800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:118864200-118880200	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:118864400-118880200	Weak transcription	Fetal Brain Female	brain
43	chr5:118865800-118879400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:118866000-118883200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:118866400-118877000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr5:118866400-118879800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr5:118866400-118880000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:118867000-118878400	Weak transcription	NHDF-Ad	bronchial
49	chr5:118869400-118880000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:118869600-118880000	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links