Variant report

Variant	rs7994845
Chromosome Location	chr13:49736785-49736786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12872974	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1359066	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1407827	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1407829	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1535922	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1983805	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2021622	0.81[EUR][1000 genomes]
rs2146748	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2147399	0.83[EUR][1000 genomes]
rs2181537	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2181538	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2181539	0.82[EUR][1000 genomes]
rs2224742	0.86[ASN][1000 genomes]
rs2897689	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34360275	0.85[EUR][1000 genomes]
rs35018425	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4142065	0.81[EUR][1000 genomes]
rs4245350	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4530025	0.83[EUR][1000 genomes]
rs4942800	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6561493	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6561496	0.82[EUR][1000 genomes]
rs6561497	0.85[ASN][1000 genomes]
rs6561504	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67235936	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7139746	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7139819	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs716722	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7317908	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7318871	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7333285	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338529	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7990573	0.83[EUR][1000 genomes]
rs7996151	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9526525	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9526526	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535141	0.81[EUR][1000 genomes]
rs9535147	0.82[EUR][1000 genomes]
rs9535149	0.82[EUR][1000 genomes]
rs9535154	0.84[EUR][1000 genomes]
rs9535155	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535156	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535166	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535167	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9562870	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568150	0.82[EUR][1000 genomes]
rs9568151	0.82[EUR][1000 genomes]
rs9568154	0.86[ASN][1000 genomes]
rs9596064	0.83[EUR][1000 genomes]
rs972297	0.90[EUR][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	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
2	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
3	esv1796840	chr13:49671215-49760666	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1052168	chr13:49691378-49743696	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
2	chr13:49693600-49737200	Weak transcription	Spleen	Spleen
3	chr13:49705800-49737200	Weak transcription	Right Ventricle	heart
4	chr13:49706000-49737400	Weak transcription	Gastric	stomach
5	chr13:49706000-49748200	Weak transcription	K562	blood
6	chr13:49706600-49737000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:49706800-49737400	Weak transcription	Small Intestine	intestine
8	chr13:49707800-49737200	Weak transcription	Lung	lung
9	chr13:49709600-49737200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:49711600-49737200	Weak transcription	Colonic Mucosa	Colon
11	chr13:49714200-49737400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr13:49715000-49737200	Weak transcription	Aorta	Aorta
13	chr13:49715400-49737600	Weak transcription	HSMMtube	muscle
14	chr13:49720600-49737600	Weak transcription	HepG2	liver
15	chr13:49720600-49742200	Weak transcription	Hela-S3	cervix
16	chr13:49721600-49737000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:49721600-49737400	Weak transcription	Brain Substantia Nigra	brain
18	chr13:49721600-49737400	Weak transcription	Colon Smooth Muscle	Colon
19	chr13:49721600-49737600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr13:49721600-49738000	Weak transcription	Brain Angular Gyrus	brain
21	chr13:49721800-49738000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr13:49721800-49751400	Weak transcription	NH-A	brain
23	chr13:49722000-49737400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr13:49722400-49738000	Weak transcription	NHEK	skin
25	chr13:49722800-49752800	Weak transcription	Psoas Muscle	Psoas
26	chr13:49724000-49737800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr13:49724000-49738000	Weak transcription	NHDF-Ad	bronchial
28	chr13:49724400-49742200	Weak transcription	HUVEC	blood vessel
29	chr13:49724400-49765000	Weak transcription	A549	lung
30	chr13:49724600-49737200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr13:49724600-49737200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr13:49724800-49737800	Weak transcription	Osteobl	bone
33	chr13:49725000-49737200	Weak transcription	Thymus	Thymus
34	chr13:49725200-49737600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr13:49725600-49737000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr13:49725600-49737400	Weak transcription	Brain Hippocampus Middle	brain
37	chr13:49725600-49737600	Weak transcription	HSMM	muscle
38	chr13:49725800-49737400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr13:49725800-49737800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:49726000-49737000	Weak transcription	Left Ventricle	heart
41	chr13:49726000-49737200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:49726000-49737200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:49726000-49737200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr13:49726000-49737200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr13:49726000-49737200	Weak transcription	Esophagus	oesophagus
46	chr13:49726000-49737200	Weak transcription	Fetal Intestine Small	intestine
47	chr13:49726000-49737400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:49726000-49737400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr13:49726000-49737600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr13:49726200-49737200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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