Variant report

Variant	rs61507430
Chromosome Location	chr2:47081196-47081197
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11125098	0.84[EUR][1000 genomes]
rs13415138	0.92[EUR][1000 genomes]
rs13422107	0.85[EUR][1000 genomes]
rs2278712	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34392693	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58086358	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9789584	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47069400-47082400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:47075200-47084400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:47076600-47081600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:47076800-47081600	Weak transcription	Brain Anterior Caudate	brain
5	chr2:47077200-47086200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:47077400-47081600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:47077600-47081600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:47077600-47081600	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:47077600-47081600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:47078000-47081600	Weak transcription	Esophagus	oesophagus
11	chr2:47078000-47082000	Weak transcription	Small Intestine	intestine
12	chr2:47078000-47083400	Weak transcription	Fetal Intestine Large	intestine
13	chr2:47078000-47085200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:47078000-47085200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:47078200-47081400	Weak transcription	Adipose Nuclei	Adipose
16	chr2:47078200-47081600	Weak transcription	Fetal Lung	lung
17	chr2:47078200-47081600	Weak transcription	Spleen	Spleen
18	chr2:47078400-47081400	Weak transcription	HSMMtube	muscle
19	chr2:47078400-47081600	Weak transcription	Colonic Mucosa	Colon
20	chr2:47078400-47081600	Weak transcription	Fetal Heart	heart
21	chr2:47078400-47081600	Weak transcription	Lung	lung
22	chr2:47078400-47081600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:47078400-47081600	Weak transcription	Right Ventricle	heart
24	chr2:47078400-47083200	Weak transcription	Psoas Muscle	Psoas
25	chr2:47078600-47081200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:47078600-47081400	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:47078600-47081400	Weak transcription	Fetal Stomach	stomach
28	chr2:47078600-47081600	Weak transcription	Aorta	Aorta
29	chr2:47078600-47081600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:47078600-47081600	Weak transcription	Ovary	ovary
31	chr2:47078600-47081600	Weak transcription	Right Atrium	heart
32	chr2:47078600-47081600	Weak transcription	HSMM	muscle
33	chr2:47078600-47082000	Weak transcription	Stomach Mucosa	stomach
34	chr2:47078600-47082600	Weak transcription	Pancreas	Pancrea
35	chr2:47079200-47081400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:47079200-47082600	Enhancers	HUVEC	blood vessel
37	chr2:47079600-47081600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:47079800-47081200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:47079800-47081200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:47080200-47081200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:47080200-47081400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:47080200-47081400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:47080200-47081600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:47080200-47081600	Weak transcription	Osteobl	bone
45	chr2:47080400-47081400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:47080400-47081400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:47080400-47081400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:47080400-47081400	Weak transcription	NHDF-Ad	bronchial
49	chr2:47080400-47081400	Weak transcription	NHLF	lung
50	chr2:47080400-47081600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links