Variant report

Variant	rs4912906
Chromosome Location	chr5:142745955-142745956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:142745650..142747956-chr5:142752614..142754751,2	K562	blood:
2	chr5:142745006..142750085-chr5:142752614..142756779,5	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10482634	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10482655	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10482682	0.94[ASN][1000 genomes]
rs11745958	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11750172	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17209216	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17209237	0.88[EUR][1000 genomes]
rs17209251	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17209258	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17339455	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17399352	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013935	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2398631	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2963156	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33944801	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4912903	0.94[ASN][1000 genomes]
rs4912908	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4986593	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62375499	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62375502	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9324916	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142693800-142747400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:142725000-142764200	Weak transcription	Lung	lung
3	chr5:142734000-142756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:142734200-142754200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:142735600-142756000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:142735800-142748200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:142735800-142751200	Weak transcription	HMEC	breast
8	chr5:142735800-142751800	Weak transcription	NHEK	skin
9	chr5:142736200-142746200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:142736200-142748200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:142736200-142755800	Weak transcription	Small Intestine	intestine
12	chr5:142736200-142756000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:142736800-142746800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:142739400-142763600	Weak transcription	Thymus	Thymus
15	chr5:142739600-142754200	Weak transcription	Fetal Thymus	thymus
16	chr5:142740600-142752600	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:142740600-142755800	Weak transcription	Right Ventricle	heart
18	chr5:142740800-142747200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:142740800-142752600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:142741200-142748800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:142741400-142751400	Weak transcription	Hela-S3	cervix
22	chr5:142741400-142757000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr5:142741600-142771600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:142741800-142749000	Weak transcription	Liver	Liver
25	chr5:142742000-142753600	Weak transcription	Osteobl	bone
26	chr5:142742400-142749000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr5:142742600-142748400	Weak transcription	Spleen	Spleen
28	chr5:142742600-142756200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:142742600-142762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:142742800-142748400	Weak transcription	Left Ventricle	heart
31	chr5:142742800-142755800	Weak transcription	Right Atrium	heart
32	chr5:142742800-142758800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:142743000-142756800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:142743200-142748400	Weak transcription	Psoas Muscle	Psoas
35	chr5:142743200-142764200	Weak transcription	HepG2	liver
36	chr5:142743400-142749000	ZNF genes & repeats	GM12878-XiMat	blood
37	chr5:142743600-142749000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:142744000-142746200	Weak transcription	NHDF-Ad	bronchial
39	chr5:142744000-142747400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:142744000-142747400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:142744000-142754000	Weak transcription	NHLF	lung
42	chr5:142744000-142762200	Weak transcription	K562	blood
43	chr5:142744200-142755800	Weak transcription	HSMM	muscle
44	chr5:142744200-142756000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:142744400-142751800	Weak transcription	Fetal Lung	lung
46	chr5:142744600-142748200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:142744600-142748400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:142744600-142751800	Weak transcription	Ovary	ovary
49	chr5:142744600-142762400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:142744800-142746600	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links