Variant report

Variant	rs4148487
Chromosome Location	chr13:95839203-95839204
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	chr13:95835821..95837639-chr13:95838290..95839956,2	K562	blood:
2	chr13:95838565..95840838-chr13:95843136..95844913,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12584917	0.86[JPT][hapmap];0.83[YRI][hapmap]
rs1564351	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17189390	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17189540	0.82[TSI][hapmap]
rs17268129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17268170	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1751026	0.92[EUR][1000 genomes]
rs1751027	0.92[CEU][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs1751028	0.88[EUR][1000 genomes]
rs2009772	0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap]
rs4148456	0.88[JPT][hapmap];0.91[TSI][hapmap]
rs56137953	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61965912	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61965929	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74105447	0.83[AFR][1000 genomes]
rs74105455	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74105457	0.90[ASN][1000 genomes]
rs9302049	1.00[JPT][hapmap];0.91[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95752200-95844200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr13:95807000-95846000	Weak transcription	Brain Substantia Nigra	brain
3	chr13:95807000-95857800	Weak transcription	Esophagus	oesophagus
4	chr13:95807200-95844400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr13:95807200-95865600	Weak transcription	Colonic Mucosa	Colon
6	chr13:95808200-95841800	Weak transcription	Osteobl	bone
7	chr13:95808400-95854600	Weak transcription	NHEK	skin
8	chr13:95813200-95858000	Weak transcription	Aorta	Aorta
9	chr13:95815000-95844200	Weak transcription	Fetal Muscle Leg	muscle
10	chr13:95815200-95847800	Weak transcription	Hela-S3	cervix
11	chr13:95818200-95841800	Weak transcription	NHDF-Ad	bronchial
12	chr13:95823600-95844400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:95824600-95840000	Weak transcription	Fetal Lung	lung
14	chr13:95825400-95841400	Weak transcription	HUVEC	blood vessel
15	chr13:95827400-95872400	Weak transcription	NH-A	brain
16	chr13:95828000-95840400	Weak transcription	Liver	Liver
17	chr13:95828600-95844200	Weak transcription	HSMM	muscle
18	chr13:95829400-95840400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:95829400-95856000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr13:95830200-95840000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:95830200-95841600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:95830400-95841400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:95830400-95845400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:95830400-95845600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:95830400-95857800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:95830400-95857800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr13:95831600-95844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:95831600-95845200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr13:95831600-95845600	Weak transcription	Fetal Intestine Large	intestine
30	chr13:95833000-95845600	Weak transcription	Brain Hippocampus Middle	brain
31	chr13:95833600-95840200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr13:95833600-95856800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:95833800-95839600	Weak transcription	Right Ventricle	heart
34	chr13:95833800-95844000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr13:95833800-95846000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr13:95833800-95855400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:95833800-95856600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr13:95833800-95859800	Weak transcription	Colon Smooth Muscle	Colon
39	chr13:95834000-95844200	Weak transcription	Ovary	ovary
40	chr13:95834000-95846000	Weak transcription	Gastric	stomach
41	chr13:95834000-95865400	Weak transcription	Psoas Muscle	Psoas
42	chr13:95834200-95845400	Weak transcription	HepG2	liver
43	chr13:95834400-95844200	Weak transcription	Lung	lung
44	chr13:95834400-95845800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr13:95834400-95849200	Weak transcription	K562	blood
46	chr13:95835400-95839400	Enhancers	Primary T cells fromperipheralblood	blood
47	chr13:95835800-95840400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr13:95835800-95840600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:95835800-95841600	Weak transcription	Fetal Kidney	kidney
50	chr13:95836400-95839400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links