Variant report

Variant	rs624802
Chromosome Location	chr13:76353166-76353167
allele	A/C
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	0.87[YRI][hapmap];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[YRI][hapmap];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]
rs605536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606853	1.00[AMR][1000 genomes]
rs619523	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs621351	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76323800-76356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:76338000-76356800	Weak transcription	Brain Anterior Caudate	brain
3	chr13:76338000-76362800	Weak transcription	Fetal Stomach	stomach
4	chr13:76338600-76356600	Weak transcription	Left Ventricle	heart
5	chr13:76338800-76371000	Weak transcription	Fetal Thymus	thymus
6	chr13:76340000-76363600	Weak transcription	Thymus	Thymus
7	chr13:76342400-76357800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr13:76343400-76370800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr13:76344800-76356800	Weak transcription	Fetal Lung	lung
10	chr13:76346800-76361600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr13:76347400-76358000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr13:76347400-76361400	Weak transcription	HMEC	breast
13	chr13:76347600-76353600	Weak transcription	Esophagus	oesophagus
14	chr13:76347800-76356400	Weak transcription	NH-A	brain
15	chr13:76347800-76356600	Weak transcription	HSMMtube	muscle
16	chr13:76347800-76356800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:76347800-76361400	Weak transcription	Gastric	stomach
18	chr13:76348200-76354400	Weak transcription	Fetal Intestine Large	intestine
19	chr13:76348400-76356600	Weak transcription	Liver	Liver
20	chr13:76348600-76355200	Strong transcription	Osteobl	bone
21	chr13:76349000-76356800	Weak transcription	NHLF	lung
22	chr13:76350000-76371000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr13:76350200-76358000	Weak transcription	Small Intestine	intestine
24	chr13:76350600-76361200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr13:76351200-76356600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr13:76351400-76353200	Weak transcription	A549	lung
27	chr13:76351400-76354000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr13:76351400-76354600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr13:76351400-76356600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr13:76351400-76360200	Weak transcription	Right Ventricle	heart
31	chr13:76351600-76356600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr13:76351800-76356800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:76352600-76353200	Strong transcription	Hela-S3	cervix
34	chr13:76352600-76353400	Enhancers	Placenta	Placenta
35	chr13:76352600-76353800	Strong transcription	HSMM	muscle
36	chr13:76352600-76355000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:76352600-76355000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:76352600-76355200	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr13:76352800-76353200	Weak transcription	Lung	lung
40	chr13:76352800-76353400	Strong transcription	Primary T cells from cord blood	blood
41	chr13:76352800-76353400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr13:76352800-76353600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr13:76352800-76353800	Strong transcription	NHDF-Ad	bronchial
44	chr13:76352800-76357200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:76353000-76353400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr13:76353000-76353600	Strong transcription	HepG2	liver
47	chr13:76353000-76354000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:76353000-76355200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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