Variant report

Variant	rs7996151
Chromosome Location	chr13:49761787-49761788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1013347	0.84[AMR][1000 genomes]
rs12184794	0.81[AMR][1000 genomes]
rs12871418	0.82[AMR][1000 genomes]
rs1407827	0.84[EUR][1000 genomes]
rs1535922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1937181	0.87[AMR][1000 genomes]
rs1983805	0.84[EUR][1000 genomes]
rs2147399	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2181539	0.81[AMR][1000 genomes]
rs2897689	0.83[EUR][1000 genomes]
rs2994377	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2994378	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34360275	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35018425	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4245350	0.96[EUR][1000 genomes]
rs6561496	0.81[AMR][1000 genomes]
rs6561504	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6561506	0.81[AMR][1000 genomes]
rs6561507	0.81[AMR][1000 genomes]
rs67235936	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7139746	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7139819	0.92[EUR][1000 genomes]
rs716722	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7317908	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7331917	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7333285	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7338304	0.81[AMR][1000 genomes]
rs7338529	0.83[EUR][1000 genomes]
rs7990573	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7994845	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9526525	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9526526	0.80[EUR][1000 genomes]
rs9526531	0.82[AMR][1000 genomes]
rs9526532	0.83[AMR][1000 genomes]
rs9535145	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9535154	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535155	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535156	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535167	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535170	0.82[AMR][1000 genomes]
rs9535172	0.85[AMR][1000 genomes]
rs9562870	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9568169	0.82[AMR][1000 genomes]
rs9568171	0.81[AMR][1000 genomes]
rs9568172	0.82[AMR][1000 genomes]
rs9568173	0.81[AMR][1000 genomes]
rs9596064	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9596073	0.81[AMR][1000 genomes]
rs972297	0.87[AMR][1000 genomes];0.91[EUR][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	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
2	chr13:49724400-49765000	Weak transcription	A549	lung
3	chr13:49737800-49788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:49738000-49777000	Weak transcription	Small Intestine	intestine
5	chr13:49738400-49762000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:49738400-49785200	Strong transcription	Liver	Liver
7	chr13:49738600-49785000	Strong transcription	Dnd41	blood
8	chr13:49738800-49761800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:49739000-49761800	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:49739000-49768200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:49739000-49774200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:49739600-49786400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:49740200-49786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:49740400-49762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:49740400-49784800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr13:49740600-49768400	Strong transcription	Fetal Thymus	thymus
17	chr13:49740600-49769000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr13:49740600-49772800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:49740600-49786600	Strong transcription	Placenta	Placenta
20	chr13:49740800-49762400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:49741600-49783400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr13:49742600-49783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr13:49742800-49774400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:49745600-49783400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr13:49747400-49762600	Weak transcription	Pancreas	Pancrea
26	chr13:49747400-49764000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:49747400-49766400	Weak transcription	Aorta	Aorta
28	chr13:49747400-49772000	Weak transcription	Esophagus	oesophagus
29	chr13:49747400-49772000	Weak transcription	Spleen	Spleen
30	chr13:49747800-49762800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr13:49748800-49790600	Weak transcription	K562	blood
32	chr13:49749400-49767600	Strong transcription	Primary hematopoietic stem cells	blood
33	chr13:49749400-49768200	Strong transcription	Fetal Intestine Large	intestine
34	chr13:49749400-49774000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr13:49750200-49769000	Strong transcription	Fetal Muscle Leg	muscle
36	chr13:49750800-49766200	Strong transcription	HSMM	muscle
37	chr13:49750800-49768400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr13:49751200-49768200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr13:49751400-49767800	Strong transcription	NH-A	brain
40	chr13:49752600-49762600	Weak transcription	Fetal Brain Male	brain
41	chr13:49752600-49763200	Strong transcription	HSMMtube	muscle
42	chr13:49753200-49762400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr13:49753200-49766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr13:49753200-49766400	Weak transcription	Lung	lung
45	chr13:49753200-49767400	Weak transcription	Gastric	stomach
46	chr13:49753200-49787600	Weak transcription	Psoas Muscle	Psoas
47	chr13:49753400-49765200	Weak transcription	Brain Angular Gyrus	brain
48	chr13:49753400-49772000	Weak transcription	Colonic Mucosa	Colon
49	chr13:49754800-49769400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:49756600-49785400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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