Variant report

Variant	rs56200772
Chromosome Location	chr7:50743947-50743948
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10486758	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12538863	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17152083	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17449280	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17450294	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17546879	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17547506	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17547664	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17547986	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17548938	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237482	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286155	0.86[ASN][1000 genomes]
rs4245558	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947816	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947832	0.90[ASN][1000 genomes]
rs4947834	0.86[ASN][1000 genomes]
rs4947844	0.86[ASN][1000 genomes]
rs4947854	0.86[ASN][1000 genomes]
rs56037477	0.80[ASN][1000 genomes]
rs56118724	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58198279	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60767324	0.87[EUR][1000 genomes]
rs61250449	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113830	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73113860	0.86[ASN][1000 genomes]
rs73113863	0.86[ASN][1000 genomes]
rs73116822	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116823	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116829	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116888	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116890	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116898	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118830	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118836	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118841	0.90[ASN][1000 genomes]
rs73122773	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122790	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122793	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122798	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73124705	0.90[ASN][1000 genomes]
rs73124711	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73124720	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs757771	0.86[ASN][1000 genomes]
rs757998	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50706400-50744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:50730200-50744000	Weak transcription	Small Intestine	intestine
5	chr7:50730200-50748600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:50731800-50750000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:50732600-50749200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:50734200-50748800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:50735400-50744400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:50735800-50745000	Weak transcription	Stomach Mucosa	stomach
11	chr7:50736600-50755200	Weak transcription	NHDF-Ad	bronchial
12	chr7:50738800-50765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:50739000-50746400	Weak transcription	Ovary	ovary
14	chr7:50741000-50746000	Weak transcription	Thymus	Thymus
15	chr7:50742000-50745800	Enhancers	Fetal Brain Male	brain
16	chr7:50742000-50753000	Weak transcription	Osteobl	bone
17	chr7:50742200-50744400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:50742200-50744400	Weak transcription	Aorta	Aorta
19	chr7:50742200-50744400	Enhancers	Brain Hippocampus Middle	brain
20	chr7:50742200-50744400	Weak transcription	Gastric	stomach
21	chr7:50742200-50744600	Weak transcription	Fetal Intestine Large	intestine
22	chr7:50742200-50745400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:50742200-50746400	Weak transcription	HSMMtube	muscle
24	chr7:50742200-50748200	Enhancers	Brain Anterior Caudate	brain
25	chr7:50742200-50749400	Weak transcription	Placenta	Placenta
26	chr7:50742200-50749400	Enhancers	Rectal Smooth Muscle	rectum
27	chr7:50742200-50749800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:50742200-50758200	Weak transcription	Brain Germinal Matrix	brain
29	chr7:50742200-50765200	Weak transcription	NHLF	lung
30	chr7:50742400-50744000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:50742400-50744200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:50742400-50744600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:50742400-50746800	Weak transcription	A549	lung
34	chr7:50742400-50747000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:50742400-50747400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:50742400-50747600	Enhancers	Brain Substantia Nigra	brain
37	chr7:50742400-50753600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:50742400-50755000	Weak transcription	Esophagus	oesophagus
39	chr7:50742400-50755000	Weak transcription	NH-A	brain
40	chr7:50742400-50755200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:50742600-50745600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:50742600-50745600	Enhancers	Right Atrium	heart
43	chr7:50742600-50745800	Enhancers	Brain Cingulate Gyrus	brain
44	chr7:50742600-50746000	Enhancers	Psoas Muscle	Psoas
45	chr7:50742600-50746200	Enhancers	Colon Smooth Muscle	Colon
46	chr7:50742600-50747400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr7:50742600-50748800	Weak transcription	Fetal Lung	lung
48	chr7:50742600-50749000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:50742600-50749000	Weak transcription	HUVEC	blood vessel
50	chr7:50742600-50749200	Weak transcription	Primary hematopoietic stem cells	blood

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