Variant report

Variant	rs7308580
Chromosome Location	chr12:39284958-39284959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10876062	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs10876185	0.83[EUR][1000 genomes]
rs11169878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12422883	0.83[EUR][1000 genomes]
rs12424244	0.83[EUR][1000 genomes]
rs12424853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425783	0.83[EUR][1000 genomes]
rs12427196	0.83[EUR][1000 genomes]
rs12580722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17126242	1.00[AFR][1000 genomes]
rs17126261	1.00[AFR][1000 genomes]
rs17126711	1.00[AFR][1000 genomes]
rs17126713	0.83[EUR][1000 genomes]
rs17126718	1.00[AFR][1000 genomes]
rs17126729	1.00[AFR][1000 genomes]
rs17126731	1.00[AFR][1000 genomes]
rs17126733	1.00[AFR][1000 genomes]
rs17126734	1.00[AFR][1000 genomes]
rs17126736	1.00[AFR][1000 genomes]
rs17126737	1.00[AFR][1000 genomes]
rs17126745	1.00[AFR][1000 genomes]
rs17126747	1.00[AFR][1000 genomes]
rs1878223	0.92[EUR][1000 genomes]
rs1878224	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs57950648	0.83[EUR][1000 genomes]
rs58235891	0.83[EUR][1000 genomes]
rs59843534	0.83[EUR][1000 genomes]
rs60409162	0.83[EUR][1000 genomes]
rs60863548	0.83[EUR][1000 genomes]
rs61636003	0.83[EUR][1000 genomes]
rs7138835	0.83[EUR][1000 genomes]
rs7307936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73084040	0.83[EUR][1000 genomes]
rs73084066	0.83[EUR][1000 genomes]
rs73084068	0.83[EUR][1000 genomes]
rs73089536	0.83[EUR][1000 genomes]
rs73089574	0.83[EUR][1000 genomes]
rs7954044	0.83[EUR][1000 genomes]
rs7956929	0.87[EUR][1000 genomes]
rs7968397	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7971601	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7974510	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs9943730	0.83[EUR][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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv899009	chr12:39284077-39441096	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39269800-39285800	Weak transcription	Osteobl	bone
2	chr12:39271800-39297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:39277800-39287200	Weak transcription	Aorta	Aorta
4	chr12:39279800-39285800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:39280000-39285600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:39280400-39287200	Weak transcription	Colonic Mucosa	Colon
7	chr12:39280800-39285800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:39281000-39285800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:39281000-39286000	Weak transcription	Gastric	stomach
10	chr12:39282200-39285800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:39282800-39285200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:39282800-39285200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr12:39283200-39285000	Enhancers	Primary hematopoietic stem cells	blood
14	chr12:39283400-39285800	Enhancers	Liver	Liver
15	chr12:39283600-39285800	Weak transcription	Esophagus	oesophagus
16	chr12:39283800-39285000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:39283800-39285800	Weak transcription	Left Ventricle	heart
18	chr12:39283800-39285800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:39284000-39285000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:39284200-39289600	Weak transcription	Adipose Nuclei	Adipose
21	chr12:39284400-39285000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:39284400-39285600	Weak transcription	Hela-S3	cervix
23	chr12:39284400-39285800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:39284600-39285600	Weak transcription	Fetal Intestine Small	intestine
25	chr12:39284600-39285600	Weak transcription	A549	lung
26	chr12:39284600-39285800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:39284600-39285800	Weak transcription	Stomach Mucosa	stomach
28	chr12:39284600-39285800	Weak transcription	HMEC	breast
29	chr12:39284600-39286000	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:39284600-39286000	Weak transcription	NHEK	skin
31	chr12:39284600-39289200	Weak transcription	HUVEC	blood vessel
32	chr12:39284800-39286000	Enhancers	Lung	lung
33	chr12:39284800-39286400	Enhancers	Right Atrium	heart
34	chr12:39284800-39288800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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