Variant report

Variant	rs9596077
Chromosome Location	chr13:49848833-49848834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10459375	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10459376	0.93[EUR][1000 genomes]
rs11619804	0.84[ASN][1000 genomes]
rs11838927	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11843587	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12385878	0.84[EUR][1000 genomes]
rs12585196	0.85[EUR][1000 genomes]
rs1555672	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1924659	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1924660	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1924661	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2038759	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2147398	0.88[EUR][1000 genomes]
rs2181905	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2274149	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2274150	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2407521	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2407607	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2407608	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3087770	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3764131	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4245351	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4941637	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4942809	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4942811	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4942812	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4942815	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6561511	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs719614	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7320595	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7320745	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7326181	0.91[EUR][1000 genomes]
rs7326191	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7328063	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7330892	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7334929	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7984689	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7988621	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7997545	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7999710	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9316434	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9316437	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9316439	0.83[EUR][1000 genomes]
rs9526533	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9526534	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9526537	0.88[EUR][1000 genomes]
rs9526538	0.88[EUR][1000 genomes]
rs9526539	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9535173	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535174	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535177	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535180	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535181	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535182	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535184	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535185	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9535190	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535192	0.86[EUR][1000 genomes]
rs9535193	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535194	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9535197	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9535198	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9535199	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9535200	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9562873	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9568174	0.87[EUR][1000 genomes]
rs9568176	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9568177	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9568179	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568181	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9568182	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9591249	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9596078	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9596079	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9596080	0.84[EUR][1000 genomes]
rs9596082	0.86[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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr13:49823800-49855400	Weak transcription	Small Intestine	intestine
2	chr13:49826600-49877800	Weak transcription	Psoas Muscle	Psoas
3	chr13:49832800-49860600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr13:49832800-49862800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr13:49833000-49865600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr13:49833200-49852600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr13:49833200-49863800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr13:49833200-49866600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr13:49834200-49855600	Weak transcription	Fetal Intestine Small	intestine
10	chr13:49834200-49875200	Weak transcription	Gastric	stomach
11	chr13:49834600-49867000	Weak transcription	Thymus	Thymus
12	chr13:49834800-49853200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr13:49834800-49873000	Weak transcription	HMEC	breast
14	chr13:49834800-49875400	Weak transcription	Esophagus	oesophagus
15	chr13:49835400-49862200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:49835600-49866800	Weak transcription	Brain Angular Gyrus	brain
17	chr13:49835600-49866800	Weak transcription	Brain Germinal Matrix	brain
18	chr13:49835600-49867000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr13:49835600-49867000	Weak transcription	Fetal Brain Male	brain
20	chr13:49835800-49853000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr13:49835800-49863600	Weak transcription	Right Ventricle	heart
22	chr13:49835800-49875200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr13:49835800-49875200	Weak transcription	GM12878-XiMat	blood
24	chr13:49836000-49851800	Weak transcription	Placenta	Placenta
25	chr13:49836000-49866800	Weak transcription	Colon Smooth Muscle	Colon
26	chr13:49836200-49856600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr13:49836200-49866800	Weak transcription	Brain Substantia Nigra	brain
28	chr13:49836600-49866800	Weak transcription	Brain Anterior Caudate	brain
29	chr13:49836600-49867000	Weak transcription	Primary B cells from cord blood	blood
30	chr13:49836600-49867000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr13:49837000-49852800	Weak transcription	Ovary	ovary
32	chr13:49837600-49858800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:49837800-49854600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr13:49837800-49866600	Weak transcription	Fetal Lung	lung
35	chr13:49838400-49853000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr13:49838600-49875400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:49842600-49852400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr13:49842600-49852400	Weak transcription	Liver	Liver
39	chr13:49842600-49852800	Weak transcription	Fetal Thymus	thymus
40	chr13:49842600-49853000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr13:49842600-49853000	Weak transcription	Brain Hippocampus Middle	brain
42	chr13:49842600-49853200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr13:49842600-49853200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr13:49842600-49866800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:49842600-49874600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr13:49842800-49850400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr13:49842800-49850600	Weak transcription	Adipose Nuclei	Adipose
48	chr13:49842800-49852400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr13:49842800-49852800	Weak transcription	Left Ventricle	heart
50	chr13:49842800-49852800	Weak transcription	Spleen	Spleen

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