Variant report

Variant	rs12430034
Chromosome Location	chr13:76357830-76357831
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12427729	1.00[ASW][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap]
rs12428250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12428617	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12428746	1.00[CEU][hapmap];0.87[AFR][1000 genomes]
rs12429534	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1542115	0.87[AFR][1000 genomes]
rs17065053	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17065074	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17065145	0.80[MEX][hapmap]
rs1924094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2120061	1.00[ASW][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2241913	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759445	1.00[ASW][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs4514560	0.85[TSI][hapmap]
rs4885357	1.00[CEU][hapmap];0.87[AFR][1000 genomes]
rs56030259	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58447742	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61958154	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61958155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61958156	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61958157	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61959560	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61959561	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61959635	0.87[AFR][1000 genomes]
rs9544047	0.84[ASN][1000 genomes]
rs9544053	0.87[AFR][1000 genomes]
rs9544059	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap]

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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76338000-76362800	Weak transcription	Fetal Stomach	stomach
2	chr13:76338800-76371000	Weak transcription	Fetal Thymus	thymus
3	chr13:76340000-76363600	Weak transcription	Thymus	Thymus
4	chr13:76343400-76370800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr13:76346800-76361600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr13:76347400-76358000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:76347400-76361400	Weak transcription	HMEC	breast
8	chr13:76347800-76361400	Weak transcription	Gastric	stomach
9	chr13:76350000-76371000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr13:76350200-76358000	Weak transcription	Small Intestine	intestine
11	chr13:76350600-76361200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr13:76351400-76360200	Weak transcription	Right Ventricle	heart
13	chr13:76353400-76362800	Weak transcription	Lung	lung
14	chr13:76353400-76370600	Weak transcription	Primary T cells from cord blood	blood
15	chr13:76354800-76358000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:76355200-76362400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:76355600-76370800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr13:76356200-76358000	Strong transcription	HSMM	muscle
19	chr13:76356400-76358200	Genic enhancers	Osteobl	bone
20	chr13:76356600-76358000	Enhancers	NHDF-Ad	bronchial
21	chr13:76357000-76358000	Weak transcription	HSMMtube	muscle
22	chr13:76357000-76358400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr13:76357000-76358400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:76357000-76360200	Weak transcription	Left Ventricle	heart
25	chr13:76357000-76361400	Weak transcription	NH-A	brain
26	chr13:76357000-76362400	Weak transcription	Esophagus	oesophagus
27	chr13:76357000-76362800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:76357000-76363000	Weak transcription	Fetal Kidney	kidney
29	chr13:76357000-76368400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr13:76357200-76358200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:76357200-76358200	Enhancers	HepG2	liver
32	chr13:76357200-76359600	Enhancers	Hela-S3	cervix
33	chr13:76357200-76360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:76357200-76363000	Weak transcription	Brain Anterior Caudate	brain
35	chr13:76357400-76358200	Enhancers	Placenta	Placenta
36	chr13:76357400-76358400	Genic enhancers	Muscle Satellite Cultured Cells	--
37	chr13:76357400-76358400	Enhancers	Pancreas	Pancrea
38	chr13:76357400-76358600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:76357400-76359000	Enhancers	Fetal Intestine Small	intestine
40	chr13:76357400-76360400	Enhancers	Liver	Liver
41	chr13:76357600-76358400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr13:76357600-76358400	Enhancers	NHLF	lung
43	chr13:76357600-76358600	Enhancers	Fetal Intestine Large	intestine
44	chr13:76357600-76358800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:76357600-76360400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:76357800-76358000	Enhancers	Fetal Heart	heart
47	chr13:76357800-76358000	Enhancers	A549	lung
48	chr13:76357800-76358200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr13:76357800-76358600	Enhancers	Fetal Lung	lung
50	chr13:76357800-76358800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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