Variant report

Variant	rs9595932
Chromosome Location	chr13:49158816-49158817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs198568	1.00[CEU][hapmap]
rs198571	1.00[CEU][hapmap]
rs198574	1.00[CEU][hapmap]
rs198575	1.00[CEU][hapmap]
rs198576	1.00[CEU][hapmap]
rs198577	1.00[CEU][hapmap]
rs198606	1.00[CEU][hapmap]
rs198609	1.00[CEU][hapmap]
rs198610	1.00[CEU][hapmap]
rs2274400	0.88[GIH][hapmap]
rs2897587	1.00[ASN][1000 genomes]
rs398158	1.00[CEU][hapmap]
rs403390	1.00[CEU][hapmap]
rs406098	1.00[CEU][hapmap]
rs425834	1.00[CEU][hapmap]
rs56810978	0.86[ASN][1000 genomes]
rs6561448	1.00[CEU][hapmap]
rs6561457	1.00[CEU][hapmap]
rs6561461	1.00[CEU][hapmap]
rs6561465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329865	1.00[GIH][hapmap]
rs7336795	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7995216	0.88[GIH][hapmap]
rs7998781	1.00[CEU][hapmap]
rs8001241	1.00[CEU][hapmap]
rs8002565	1.00[CEU][hapmap]
rs9331965	0.88[GIH][hapmap]
rs9332054	0.88[GIH][hapmap]
rs9591182	1.00[ASN][1000 genomes]
rs9595929	0.83[ASN][1000 genomes]
rs9595931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	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
6	nsv455881	chr13:49134412-49169570	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv561591	chr13:49134412-49169570	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49147600-49160800	Weak transcription	Thymus	Thymus
2	chr13:49148400-49159000	Weak transcription	Pancreas	Pancrea
3	chr13:49148400-49160600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr13:49150600-49159400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:49154000-49159000	Weak transcription	Colonic Mucosa	Colon
6	chr13:49154000-49159000	Weak transcription	Esophagus	oesophagus
7	chr13:49154000-49159000	Weak transcription	Left Ventricle	heart
8	chr13:49154000-49159000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr13:49154000-49159000	Weak transcription	Spleen	Spleen
10	chr13:49154000-49159200	Weak transcription	Placenta	Placenta
11	chr13:49154200-49159000	Weak transcription	NHEK	skin
12	chr13:49154200-49159400	Weak transcription	Fetal Thymus	thymus
13	chr13:49154200-49160800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr13:49154200-49160800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr13:49154400-49160200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:49154600-49159400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr13:49154800-49159000	Weak transcription	Small Intestine	intestine
18	chr13:49154800-49159400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr13:49154800-49159600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr13:49154800-49160400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr13:49154800-49160400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr13:49154800-49160800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr13:49155000-49159600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr13:49155000-49160200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr13:49156000-49161400	Enhancers	HepG2	liver
26	chr13:49156400-49161400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:49157400-49161200	Enhancers	HSMMtube	muscle
28	chr13:49157600-49164800	Weak transcription	Gastric	stomach
29	chr13:49157800-49161200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:49158000-49161400	Enhancers	Colon Smooth Muscle	Colon
31	chr13:49158000-49161600	Enhancers	HMEC	breast
32	chr13:49158000-49161600	Enhancers	HUVEC	blood vessel
33	chr13:49158200-49159000	Enhancers	Brain Substantia Nigra	brain
34	chr13:49158200-49161000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:49158200-49161000	Enhancers	Osteobl	bone
36	chr13:49158200-49161400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr13:49158400-49159200	Weak transcription	Fetal Lung	lung
38	chr13:49158400-49159400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr13:49158400-49159600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr13:49158400-49161200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr13:49158600-49159000	Enhancers	Brain Anterior Caudate	brain
42	chr13:49158600-49159000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr13:49158600-49159200	Enhancers	Brain Hippocampus Middle	brain
44	chr13:49158600-49161000	Enhancers	Brain Germinal Matrix	brain
45	chr13:49158600-49161200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:49158600-49161200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:49158600-49161200	Enhancers	Brain Cingulate Gyrus	brain
48	chr13:49158600-49161200	Enhancers	Stomach Mucosa	stomach
49	chr13:49158600-49161400	Enhancers	Adipose Nuclei	Adipose
50	chr13:49158600-49161400	Enhancers	Fetal Muscle Leg	muscle

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