Variant report

Variant	rs198613
Chromosome Location	chr13:48975788-48975789
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11840676	0.92[EUR][1000 genomes]
rs171989	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs171991	0.88[AMR][1000 genomes]
rs174858	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs185587	0.92[EUR][1000 genomes]
rs198559	1.00[EUR][1000 genomes]
rs198560	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs198565	1.00[EUR][1000 genomes]
rs198566	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198567	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198572	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198573	1.00[EUR][1000 genomes]
rs198580	0.91[AFR][1000 genomes]
rs198583	1.00[EUR][1000 genomes]
rs198587	1.00[EUR][1000 genomes]
rs198589	0.89[AFR][1000 genomes]
rs198600	1.00[EUR][1000 genomes]
rs198601	1.00[EUR][1000 genomes]
rs198616	1.00[EUR][1000 genomes]
rs198617	1.00[EUR][1000 genomes]
rs198618	1.00[EUR][1000 genomes]
rs198626	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198628	1.00[EUR][1000 genomes]
rs198632	1.00[EUR][1000 genomes]
rs198636	1.00[EUR][1000 genomes]
rs2245534	0.92[EUR][1000 genomes]
rs2265777	0.92[EUR][1000 genomes]
rs2406932	0.92[EUR][1000 genomes]
rs2515668	0.92[EUR][1000 genomes]
rs2804082	1.00[EUR][1000 genomes]
rs2804084	1.00[EUR][1000 genomes]
rs2804085	1.00[EUR][1000 genomes]
rs2804086	1.00[EUR][1000 genomes]
rs2804087	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804089	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804091	0.92[EUR][1000 genomes]
rs2804092	0.92[EUR][1000 genomes]
rs2854352	0.92[EUR][1000 genomes]
rs2854356	0.92[EUR][1000 genomes]
rs2854363	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854364	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854365	0.92[EUR][1000 genomes]
rs2984828	1.00[EUR][1000 genomes]
rs3020646	1.00[EUR][1000 genomes]
rs411661	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs411862	1.00[EUR][1000 genomes]
rs4151590	0.92[EUR][1000 genomes]
rs416156	1.00[EUR][1000 genomes]
rs428431	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs443211	0.93[AFR][1000 genomes]
rs449151	0.88[AFR][1000 genomes]
rs4587857	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4625624	0.92[EUR][1000 genomes]
rs547747	1.00[EUR][1000 genomes]
rs61507973	0.92[EUR][1000 genomes]
rs7318012	0.92[EUR][1000 genomes]
rs7990103	1.00[EUR][1000 genomes]
rs8001351	0.92[EUR][1000 genomes]
rs9285166	0.92[EUR][1000 genomes]
rs9316371	0.92[EUR][1000 genomes]
rs9332053	0.82[EUR][1000 genomes]
rs9332066	0.82[EUR][1000 genomes]
rs9332248	0.92[EUR][1000 genomes]
rs9332281	0.92[EUR][1000 genomes]
rs9562817	1.00[EUR][1000 genomes]
rs9591153	0.92[EUR][1000 genomes]
rs9591154	0.92[EUR][1000 genomes]
rs9591155	0.92[EUR][1000 genomes]
rs9591163	1.00[EUR][1000 genomes]
rs9595872	0.91[EUR][1000 genomes]
rs9595894	1.00[EUR][1000 genomes]
rs9595909	1.00[EUR][1000 genomes]
rs9595910	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803998	chr13:48966078-48986320	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1050786	chr13:48971510-48987032	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1053432	chr13:48971510-48992810	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1043486	chr13:48971510-48996995	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48916800-48985400	Weak transcription	Colonic Mucosa	Colon
2	chr13:48925400-48976400	Weak transcription	Ovary	ovary
3	chr13:48934600-48984200	Weak transcription	Right Ventricle	heart
4	chr13:48943600-48984200	Weak transcription	Brain Angular Gyrus	brain
5	chr13:48944600-48983400	Weak transcription	Psoas Muscle	Psoas
6	chr13:48956200-48976600	Weak transcription	Liver	Liver
7	chr13:48966400-48986000	Weak transcription	Lung	lung
8	chr13:48966800-48984200	Weak transcription	Placenta	Placenta
9	chr13:48968200-48976400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr13:48968400-48976600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr13:48968800-48976400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr13:48968800-48977800	Weak transcription	Spleen	Spleen
13	chr13:48968800-48984200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr13:48969000-48984200	Weak transcription	Fetal Intestine Large	intestine
15	chr13:48969000-48984400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr13:48969200-48976400	Weak transcription	Fetal Thymus	thymus
17	chr13:48969200-48976600	Weak transcription	Left Ventricle	heart
18	chr13:48969200-48976600	Weak transcription	Thymus	Thymus
19	chr13:48969200-48978000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:48969200-48978000	Weak transcription	Esophagus	oesophagus
21	chr13:48969200-48984200	Weak transcription	Fetal Stomach	stomach
22	chr13:48969200-48984400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:48970200-48977600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr13:48970400-48976400	Weak transcription	Fetal Muscle Leg	muscle
25	chr13:48970600-48984200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:48971200-48976800	Enhancers	HepG2	liver
27	chr13:48971600-48977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:48972000-48976000	Enhancers	NHLF	lung
29	chr13:48972000-48976200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:48972000-48976400	Enhancers	NHDF-Ad	bronchial
31	chr13:48972000-48977200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:48972000-48977400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:48972000-48977800	Enhancers	HMEC	breast
34	chr13:48972000-48978000	Enhancers	Osteobl	bone
35	chr13:48972000-48978800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr13:48972000-48980000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:48972400-48975800	Enhancers	Fetal Kidney	kidney
38	chr13:48972600-48982600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr13:48972800-48977600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr13:48973200-48976000	Enhancers	Hela-S3	cervix
41	chr13:48973600-48977200	Enhancers	Adipose Nuclei	Adipose
42	chr13:48973800-48978600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr13:48973800-48984000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr13:48974000-48976000	Enhancers	Rectal Smooth Muscle	rectum
45	chr13:48974000-48977200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr13:48974000-48977200	Enhancers	Fetal Lung	lung
47	chr13:48974200-48976000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr13:48974200-48976000	Enhancers	HSMMtube	muscle
49	chr13:48974400-48976000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr13:48974400-48979000	Enhancers	Primary hematopoietic stem cells	blood

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