Variant report

Variant	rs2147399
Chromosome Location	chr13:49790103-49790104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1013347	0.88[AMR][1000 genomes]
rs12184794	0.84[AMR][1000 genomes]
rs12871418	0.85[AMR][1000 genomes]
rs1535922	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1937181	0.81[AMR][1000 genomes]
rs35018425	0.84[EUR][1000 genomes]
rs4245350	0.84[EUR][1000 genomes]
rs6561504	0.83[EUR][1000 genomes]
rs6561506	0.84[AMR][1000 genomes]
rs6561507	0.84[AMR][1000 genomes]
rs67235936	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7139746	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs716722	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7317908	0.84[EUR][1000 genomes]
rs7333285	0.84[EUR][1000 genomes]
rs7338304	0.84[AMR][1000 genomes]
rs7982804	0.81[AMR][1000 genomes]
rs7990573	0.82[AMR][1000 genomes]
rs7994845	0.83[EUR][1000 genomes]
rs7996151	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8002911	0.83[AMR][1000 genomes]
rs9526525	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9526531	0.85[AMR][1000 genomes]
rs9526532	0.87[AMR][1000 genomes]
rs9535145	0.82[AMR][1000 genomes]
rs9535154	0.84[AMR][1000 genomes]
rs9535155	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9535156	0.80[EUR][1000 genomes]
rs9535166	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9535167	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9535170	0.85[AMR][1000 genomes]
rs9535172	0.89[AMR][1000 genomes]
rs9562870	0.83[EUR][1000 genomes]
rs9568169	0.86[AMR][1000 genomes]
rs9568171	0.84[AMR][1000 genomes]
rs9568172	0.85[AMR][1000 genomes]
rs9568173	0.84[AMR][1000 genomes]
rs9591247	0.83[AMR][1000 genomes]
rs9596064	0.82[AMR][1000 genomes]
rs9596073	0.84[AMR][1000 genomes]
rs972297	0.90[AMR][1000 genomes];0.92[EUR][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	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49748800-49790600	Weak transcription	K562	blood
2	chr13:49765600-49793800	Weak transcription	A549	lung
3	chr13:49778000-49793800	Weak transcription	Right Ventricle	heart
4	chr13:49782600-49792600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr13:49782800-49790200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:49785200-49790600	Weak transcription	Fetal Intestine Small	intestine
7	chr13:49786400-49790800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:49786400-49790800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:49786600-49791000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:49786600-49792600	Weak transcription	Left Ventricle	heart
11	chr13:49787200-49790800	Enhancers	Primary B cells from cord blood	blood
12	chr13:49787200-49791400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr13:49787400-49791000	Enhancers	Primary B cells from peripheral blood	blood
14	chr13:49787400-49791400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr13:49787600-49791000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:49788000-49791000	Enhancers	Primary hematopoietic stem cells	blood
17	chr13:49788000-49791000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:49788800-49790200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr13:49788800-49791800	Enhancers	Gastric	stomach
20	chr13:49789000-49791800	Enhancers	Stomach Mucosa	stomach
21	chr13:49789400-49790200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr13:49789400-49792200	Weak transcription	Pancreas	Pancrea
23	chr13:49789400-49792400	Weak transcription	Spleen	Spleen
24	chr13:49789400-49792600	Weak transcription	Lung	lung
25	chr13:49789600-49790800	Weak transcription	Fetal Heart	heart
26	chr13:49789600-49791000	Enhancers	HepG2	liver
27	chr13:49789800-49791600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr13:49789800-49792400	Weak transcription	Brain Anterior Caudate	brain
29	chr13:49789800-49792400	Enhancers	Dnd41	blood

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