Variant report

Variant	rs61479059
Chromosome Location	chr13:49175264-49175265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3803187	1.00[EUR][1000 genomes]
rs56810978	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61567568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7319339	0.97[ASN][1000 genomes]
rs7337926	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49161400-49176400	Weak transcription	Right Ventricle	heart
2	chr13:49169800-49177800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:49170000-49176600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr13:49170400-49176400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:49170400-49176600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:49173800-49175800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:49173800-49176600	Enhancers	Ovary	ovary
8	chr13:49174000-49176800	Enhancers	Fetal Stomach	stomach
9	chr13:49174200-49176800	Enhancers	NH-A	brain
10	chr13:49174200-49177400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr13:49174400-49177000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:49174600-49175400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:49174600-49175400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:49174600-49175400	Enhancers	HSMMtube	muscle
15	chr13:49174600-49175800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:49174600-49175800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:49174600-49176000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:49174600-49177000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr13:49174600-49178000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr13:49174800-49175400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr13:49174800-49175400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr13:49174800-49175400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:49174800-49175400	Enhancers	Fetal Intestine Small	intestine
24	chr13:49174800-49175400	Enhancers	Fetal Lung	lung
25	chr13:49174800-49175400	Enhancers	HSMM	muscle
26	chr13:49174800-49175400	Flanking Active TSS	HUVEC	blood vessel
27	chr13:49174800-49175600	Enhancers	Fetal Muscle Leg	muscle
28	chr13:49174800-49175800	Enhancers	Fetal Thymus	thymus
29	chr13:49174800-49175800	Flanking Active TSS	Dnd41	blood
30	chr13:49174800-49176800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:49174800-49177000	Enhancers	Primary hematopoietic stem cells	blood
32	chr13:49174800-49177200	Enhancers	Placenta	Placenta
33	chr13:49174800-49177400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:49175000-49175400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr13:49175000-49175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:49175000-49175400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr13:49175000-49175400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:49175000-49175400	Enhancers	Right Atrium	heart
39	chr13:49175000-49175400	Flanking Active TSS	Hela-S3	cervix
40	chr13:49175000-49175400	Flanking Active TSS	HepG2	liver
41	chr13:49175000-49175800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:49175200-49175400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr13:49175200-49175600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:49175200-49175800	Enhancers	Fetal Kidney	kidney
45	chr13:49175200-49175800	Enhancers	Fetal Muscle Trunk	muscle
46	chr13:49175200-49176800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:49175200-49176800	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links