Variant report

Variant	rs594666
Chromosome Location	chr13:76381182-76381183
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2585628	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2761075	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2761076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs486860	1.00[AMR][1000 genomes]
rs516359	1.00[AMR][1000 genomes]
rs525890	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs526899	0.85[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs596473	1.00[AMR][1000 genomes]
rs600156	0.85[AFR][1000 genomes]
rs605536	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606853	1.00[AMR][1000 genomes]
rs619523	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs621351	1.00[AMR][1000 genomes]
rs624802	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs642894	1.00[AMR][1000 genomes]
rs645822	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs654431	1.00[AMR][1000 genomes]
rs696777	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs696778	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76361600-76397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr13:76363200-76381800	Weak transcription	Fetal Stomach	stomach
3	chr13:76364600-76385000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:76367000-76387000	Weak transcription	Ovary	ovary
5	chr13:76367400-76384400	Weak transcription	Fetal Lung	lung
6	chr13:76370400-76415600	Weak transcription	Primary B cells from cord blood	blood
7	chr13:76370800-76382400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr13:76373000-76414600	Weak transcription	HMEC	breast
9	chr13:76373200-76385800	Strong transcription	Hela-S3	cervix
10	chr13:76373400-76387200	Weak transcription	Psoas Muscle	Psoas
11	chr13:76374800-76382400	Strong transcription	Liver	Liver
12	chr13:76375200-76383000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:76375800-76382600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:76376800-76415400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr13:76377400-76386800	Weak transcription	Stomach Mucosa	stomach
16	chr13:76377400-76395000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr13:76377600-76382400	Strong transcription	NHLF	lung
18	chr13:76377600-76382600	Strong transcription	Fetal Intestine Large	intestine
19	chr13:76377600-76387000	Weak transcription	Brain Germinal Matrix	brain
20	chr13:76377600-76387200	Weak transcription	Spleen	Spleen
21	chr13:76377600-76395200	Weak transcription	GM12878-XiMat	blood
22	chr13:76377600-76398600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr13:76377600-76415800	Weak transcription	Dnd41	blood
24	chr13:76377600-76416200	Weak transcription	A549	lung
25	chr13:76377800-76383400	Active TSS	Right Atrium	heart
26	chr13:76377800-76383400	Strong transcription	HepG2	liver
27	chr13:76378200-76382400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr13:76378200-76383200	Active TSS	Right Ventricle	heart
29	chr13:76378200-76383200	Strong transcription	NH-A	brain
30	chr13:76378200-76384600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr13:76378200-76397800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr13:76378200-76415800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr13:76378400-76382400	Strong transcription	Fetal Muscle Leg	muscle
34	chr13:76378400-76382600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:76378400-76382800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr13:76378400-76392200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr13:76378400-76415600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr13:76378800-76382400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr13:76378800-76384200	Strong transcription	Osteobl	bone
40	chr13:76378800-76384600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr13:76378800-76387000	Strong transcription	HSMM	muscle
42	chr13:76378800-76393200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr13:76379000-76382600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:76379200-76394800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:76379400-76382400	Strong transcription	Primary T cells from cord blood	blood
46	chr13:76379400-76384800	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr13:76379600-76381200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr13:76380200-76381200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:76380200-76381200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr13:76380200-76382600	Strong transcription	Fetal Intestine Small	intestine

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