Variant report

Variant	rs605536
Chromosome Location	chr13:76341119-76341120
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2585628	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2761075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2761076	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs486860	1.00[AMR][1000 genomes]
rs516359	1.00[AMR][1000 genomes]
rs525890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs526899	0.90[AFR][1000 genomes]
rs527890	1.00[AMR][1000 genomes]
rs538884	1.00[AMR][1000 genomes]
rs545943	1.00[AMR][1000 genomes]
rs588500	1.00[AMR][1000 genomes]
rs592466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs594666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs596473	1.00[AMR][1000 genomes]
rs600156	0.90[AFR][1000 genomes]
rs606853	1.00[AMR][1000 genomes]
rs619523	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs621351	1.00[AMR][1000 genomes]
rs624802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs642894	1.00[AMR][1000 genomes]
rs645822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs654431	1.00[AMR][1000 genomes]
rs696777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs696778	1.00[AFR][1000 genomes];1.00[AMR][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	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:76323800-76356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:76334800-76343600	Genic enhancers	Osteobl	bone
4	chr13:76337000-76344400	Weak transcription	Ovary	ovary
5	chr13:76337400-76344200	Weak transcription	Placenta	Placenta
6	chr13:76337400-76347600	Weak transcription	Gastric	stomach
7	chr13:76337600-76342400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr13:76337600-76343400	Weak transcription	Fetal Kidney	kidney
9	chr13:76337600-76344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:76338000-76344600	Weak transcription	HMEC	breast
11	chr13:76338000-76344600	Weak transcription	NHEK	skin
12	chr13:76338000-76356800	Weak transcription	Brain Anterior Caudate	brain
13	chr13:76338000-76362800	Weak transcription	Fetal Stomach	stomach
14	chr13:76338200-76342600	Enhancers	Fetal Intestine Large	intestine
15	chr13:76338600-76343800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:76338600-76345000	Weak transcription	Colonic Mucosa	Colon
17	chr13:76338600-76356600	Weak transcription	Left Ventricle	heart
18	chr13:76338800-76341600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:76338800-76343400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr13:76338800-76343800	Enhancers	A549	lung
21	chr13:76338800-76371000	Weak transcription	Fetal Thymus	thymus
22	chr13:76339000-76341200	Enhancers	Liver	Liver
23	chr13:76339000-76341600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr13:76339000-76348200	Enhancers	Fetal Intestine Small	intestine
25	chr13:76339400-76341800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr13:76339400-76342200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:76339400-76342600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr13:76339400-76343200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:76339400-76343400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr13:76339600-76342200	Enhancers	Stomach Mucosa	stomach
31	chr13:76339800-76341800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:76339800-76342400	Weak transcription	NHLF	lung
33	chr13:76339800-76342600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr13:76339800-76344600	Weak transcription	Fetal Heart	heart
35	chr13:76340000-76341800	Enhancers	Primary T cells from cord blood	blood
36	chr13:76340000-76343400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr13:76340000-76343400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr13:76340000-76363600	Weak transcription	Thymus	Thymus
39	chr13:76340200-76341800	Genic enhancers	Hela-S3	cervix
40	chr13:76340200-76343200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:76340200-76343400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr13:76340200-76343400	Weak transcription	Psoas Muscle	Psoas
43	chr13:76340200-76343400	Weak transcription	HSMMtube	muscle
44	chr13:76340200-76343600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr13:76340200-76343800	Strong transcription	HSMM	muscle
46	chr13:76340200-76344200	Weak transcription	Fetal Lung	lung
47	chr13:76340200-76347200	Weak transcription	Pancreas	Pancrea
48	chr13:76340200-76349200	Enhancers	NHDF-Ad	bronchial
49	chr13:76340400-76341400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:76340400-76342000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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