Variant report

Variant	rs4148514
Chromosome Location	chr13:95789146-95789147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10508022	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs1479389	1.00[ASW][hapmap]
rs1750996	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4148501	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs4148536	1.00[ASW][hapmap]
rs56170137	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs57771832	0.86[AMR][1000 genomes]
rs72643613	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]

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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95727000-95791600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:95727000-95812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr13:95731200-95791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr13:95740800-95791200	Weak transcription	NHLF	lung
5	chr13:95750400-95812400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr13:95750400-95815400	Weak transcription	Fetal Intestine Large	intestine
7	chr13:95751000-95793400	Weak transcription	Fetal Kidney	kidney
8	chr13:95751600-95795600	Weak transcription	Small Intestine	intestine
9	chr13:95752200-95823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr13:95752200-95844200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr13:95754000-95794800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:95756400-95828200	Weak transcription	HSMM	muscle
13	chr13:95757600-95814400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr13:95758000-95791600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr13:95761400-95789200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:95762200-95817200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:95762400-95811800	Weak transcription	K562	blood
18	chr13:95768200-95806600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:95768200-95819000	Weak transcription	Fetal Intestine Small	intestine
20	chr13:95769000-95789400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr13:95769400-95791200	Weak transcription	Esophagus	oesophagus
22	chr13:95770200-95789200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:95774600-95791200	Weak transcription	Primary T cells from cord blood	blood
24	chr13:95774600-95815800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr13:95776600-95789400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:95776800-95789400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:95778600-95791800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr13:95778800-95799200	Weak transcription	Colon Smooth Muscle	Colon
29	chr13:95778800-95833400	Weak transcription	Spleen	Spleen
30	chr13:95780800-95791200	Weak transcription	Gastric	stomach
31	chr13:95781000-95791200	Weak transcription	Pancreas	Pancrea
32	chr13:95781000-95792200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:95781000-95802400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr13:95781600-95791200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr13:95782000-95828000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr13:95783400-95803800	Weak transcription	Fetal Lung	lung
37	chr13:95784200-95789200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:95785800-95791600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:95786000-95791000	Weak transcription	Lung	lung
40	chr13:95786400-95789800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr13:95786400-95790200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr13:95786800-95795400	Weak transcription	Left Ventricle	heart
43	chr13:95787600-95790200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:95787800-95827200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr13:95788600-95789600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr13:95788800-95789200	Strong transcription	GM12878-XiMat	blood
47	chr13:95788800-95789600	Enhancers	NHEK	skin
48	chr13:95788800-95790400	Enhancers	Stomach Mucosa	stomach
49	chr13:95788800-95791400	Genic enhancers	A549	lung
50	chr13:95789000-95789200	ZNF genes & repeats	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links