Variant report

Variant	rs4948216
Chromosome Location	chr7:50564895-50564896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50564851..50566745-chr7:50568557..50570240,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1007702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1007749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575280	0.87[AMR][1000 genomes]
rs11575304	1.00[AFR][1000 genomes]
rs11575332	1.00[EUR][1000 genomes]
rs11575359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11575425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575460	1.00[AFR][1000 genomes]
rs11575506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12531158	0.81[AMR][1000 genomes]
rs12532576	1.00[AFR][1000 genomes]
rs12535024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1451370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17665398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17665588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17665670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1817073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1868886	0.81[AMR][1000 genomes]
rs3735276	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779075	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779076	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947511	0.81[AMR][1000 genomes]
rs4947576	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4947580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947634	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948010	0.81[AMR][1000 genomes]
rs4948197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4948201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6592962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947293	1.00[AFR][1000 genomes]
rs6951323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6953661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6958793	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6959596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6968322	1.00[AFR][1000 genomes]
rs6976009	0.81[AMR][1000 genomes]
rs731689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7791562	0.86[AFR][1000 genomes]
rs7792474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7797311	1.00[AFR][1000 genomes]
rs7800887	0.81[AMR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv606905	chr7:50544063-50565963	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50545800-50565800	Weak transcription	HepG2	liver
3	chr7:50560600-50566200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:50560800-50581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:50562800-50566000	Enhancers	Fetal Intestine Large	intestine
6	chr7:50562800-50566200	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:50562800-50566200	Genic enhancers	Fetal Intestine Small	intestine
8	chr7:50563600-50566200	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:50563800-50565200	Enhancers	Lung	lung
10	chr7:50563800-50566000	Enhancers	Stomach Mucosa	stomach
11	chr7:50564000-50565000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr7:50564000-50565400	Enhancers	Placenta	Placenta
13	chr7:50564000-50566200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:50564000-50566200	Enhancers	Ovary	ovary
15	chr7:50564200-50565000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:50564200-50565200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:50564200-50565200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:50564200-50565200	Enhancers	Gastric	stomach
19	chr7:50564200-50565200	Enhancers	Left Ventricle	heart
20	chr7:50564200-50565200	Enhancers	Right Atrium	heart
21	chr7:50564200-50565200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr7:50564200-50565200	Flanking Active TSS	K562	blood
23	chr7:50564200-50565400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr7:50564200-50565400	Flanking Active TSS	Hela-S3	cervix
25	chr7:50564200-50565600	Enhancers	Psoas Muscle	Psoas
26	chr7:50564200-50565600	Enhancers	Spleen	Spleen
27	chr7:50564200-50565800	Flanking Active TSS	HUVEC	blood vessel
28	chr7:50564200-50566200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:50564200-50566200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr7:50564400-50565000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:50564400-50565200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:50564400-50565200	Enhancers	Fetal Muscle Leg	muscle
33	chr7:50564400-50565200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr7:50564400-50565400	Enhancers	Pancreas	Pancrea
35	chr7:50564400-50565600	Enhancers	Colonic Mucosa	Colon
36	chr7:50564400-50565600	Enhancers	Osteobl	bone
37	chr7:50564400-50566200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:50564400-50566200	Enhancers	Adipose Nuclei	Adipose
39	chr7:50564400-50566200	Enhancers	Small Intestine	intestine
40	chr7:50564600-50565000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:50564600-50565600	Enhancers	HSMM	muscle
42	chr7:50564600-50566000	Enhancers	NHDF-Ad	bronchial
43	chr7:50564600-50566200	Enhancers	NHEK	skin
44	chr7:50564800-50565000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:50564800-50565000	Bivalent Enhancer	Fetal Stomach	stomach
46	chr7:50564800-50565200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr7:50564800-50565400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr7:50564800-50565600	Enhancers	Fetal Lung	lung
49	chr7:50564800-50565800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:50564800-50566200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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