Variant report

Variant	rs4296139
Chromosome Location	chr13:95275576-95275577
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1341267	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1572935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2298055	0.87[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs2298056	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2298057	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs35253817	0.96[ASN][1000 genomes]
rs3897473	0.95[ASN][1000 genomes]
rs3897474	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4238308	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4465476	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4489873	0.85[YRI][hapmap]
rs4771890	1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs6492720	0.96[ASN][1000 genomes]
rs6492721	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6492723	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492725	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7326576	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7981788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9516445	0.95[ASN][1000 genomes]
rs9516448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9524555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9524556	0.98[ASN][1000 genomes]
rs9524557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9524559	0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs9524560	0.82[ASN][1000 genomes]
rs9524561	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs9524562	0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs9524563	0.82[ASN][1000 genomes]
rs9524566	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs9524568	0.90[ASN][1000 genomes]
rs9556405	0.93[ASN][1000 genomes]
rs9561643	0.89[ASN][1000 genomes]
rs9561645	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832685	chr13:95179676-95279966	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95254600-95276600	Weak transcription	Small Intestine	intestine
2	chr13:95254600-95284000	Weak transcription	Spleen	Spleen
3	chr13:95254800-95275600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:95254800-95288800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:95255000-95275600	Weak transcription	Right Ventricle	heart
6	chr13:95255000-95276200	Weak transcription	HSMMtube	muscle
7	chr13:95255000-95281000	Weak transcription	Colonic Mucosa	Colon
8	chr13:95255200-95276200	Weak transcription	Fetal Brain Female	brain
9	chr13:95255200-95278200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:95255200-95282200	Weak transcription	Brain Angular Gyrus	brain
11	chr13:95255400-95288600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr13:95255600-95281800	Weak transcription	Fetal Brain Male	brain
13	chr13:95255600-95282600	Weak transcription	Fetal Heart	heart
14	chr13:95255800-95278000	Weak transcription	Hela-S3	cervix
15	chr13:95255800-95284000	Weak transcription	K562	blood
16	chr13:95255800-95285000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:95259800-95275800	Weak transcription	Gastric	stomach
18	chr13:95259800-95276000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr13:95259800-95282000	Weak transcription	Brain Germinal Matrix	brain
20	chr13:95260000-95285800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:95262200-95278200	Weak transcription	Brain Substantia Nigra	brain
22	chr13:95263600-95276200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr13:95264000-95284000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr13:95264200-95280200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr13:95264200-95299600	Weak transcription	Psoas Muscle	Psoas
26	chr13:95264600-95282400	Weak transcription	Pancreas	Pancrea
27	chr13:95264600-95289200	Weak transcription	Esophagus	oesophagus
28	chr13:95264600-95289600	Weak transcription	Fetal Kidney	kidney
29	chr13:95264800-95284600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr13:95265400-95286800	Weak transcription	A549	lung
31	chr13:95265600-95293400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:95267000-95275600	Weak transcription	Fetal Stomach	stomach
33	chr13:95267000-95276000	Weak transcription	Left Ventricle	heart
34	chr13:95267200-95275800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr13:95267200-95276200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr13:95267600-95277400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:95268600-95281000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr13:95268800-95276000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr13:95268800-95279600	Weak transcription	HUVEC	blood vessel
40	chr13:95268800-95283800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr13:95270000-95283400	Strong transcription	Dnd41	blood
42	chr13:95270400-95276800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr13:95270400-95283400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:95270600-95278800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:95270800-95277600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr13:95270800-95283200	Strong transcription	Osteobl	bone
47	chr13:95271000-95277200	Strong transcription	NHDF-Ad	bronchial
48	chr13:95271000-95280600	Strong transcription	Liver	Liver
49	chr13:95271000-95281200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr13:95271000-95283000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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