Variant report

Variant	rs55963815
Chromosome Location	chr7:48150930-48150931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:48139477..48142399-chr7:48149802..48152490,2	K562	blood:
2	chr7:48017785..48019751-chr7:48148894..48151389,2	K562	blood:

Variant related genes	Relation type
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10224298	1.00[EUR][1000 genomes]
rs10236493	1.00[EUR][1000 genomes]
rs10480933	1.00[EUR][1000 genomes]
rs55988975	1.00[EUR][1000 genomes]
rs55989050	1.00[EUR][1000 genomes]
rs56261557	1.00[EUR][1000 genomes]
rs73694341	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73694347	1.00[EUR][1000 genomes]
rs73694348	1.00[EUR][1000 genomes]
rs73694356	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1033738	chr7:48143988-48349357	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 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	chr7:48137800-48152400	Weak transcription	HSMM	muscle
2	chr7:48138800-48156200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:48143000-48156200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:48143200-48152000	Weak transcription	HSMMtube	muscle
5	chr7:48143400-48151400	Weak transcription	NHDF-Ad	bronchial
6	chr7:48147800-48151000	Weak transcription	Fetal Intestine Large	intestine
7	chr7:48148000-48155800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:48148600-48151600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:48148600-48151800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:48148600-48154200	Weak transcription	Aorta	Aorta
11	chr7:48148600-48158200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:48148800-48151800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:48148800-48151800	Weak transcription	NH-A	brain
14	chr7:48148800-48151800	Weak transcription	Osteobl	bone
15	chr7:48148800-48152000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:48149000-48151000	Weak transcription	Pancreas	Pancrea
17	chr7:48149000-48151600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:48149000-48152000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:48149000-48152200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:48149000-48152200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:48149000-48155800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:48149200-48151000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:48149200-48151400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:48149200-48151400	Weak transcription	NHEK	skin
25	chr7:48149200-48151800	Weak transcription	HMEC	breast
26	chr7:48149200-48152000	Weak transcription	NHLF	lung
27	chr7:48149200-48153600	Weak transcription	Esophagus	oesophagus
28	chr7:48149200-48154000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:48149400-48151000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:48149400-48151400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:48149400-48151600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:48149400-48153800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:48149400-48153800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:48149400-48154000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:48149400-48156200	Weak transcription	Spleen	Spleen
36	chr7:48149600-48151200	Enhancers	HepG2	liver
37	chr7:48149600-48151600	Enhancers	Fetal Intestine Small	intestine
38	chr7:48149600-48153600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:48149600-48155800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:48149800-48153600	Weak transcription	Placenta	Placenta
41	chr7:48150200-48151000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:48150200-48151800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:48150200-48153800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:48150400-48151200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:48150400-48152000	Weak transcription	A549	lung
46	chr7:48150400-48154000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:48150600-48151800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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