Variant report

Variant	rs7334018
Chromosome Location	chr13:50333778-50333779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1043729	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12585921	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13313256	0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17073322	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17073347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17073356	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1819191	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1885723	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1986085	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1998363	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2181184	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2236326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2407875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs3736830	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3742094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3782929	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3903770	1.00[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs3990324	0.89[ASN][1000 genomes]
rs4941655	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4941656	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4942862	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4942865	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56738401	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57118905	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57783887	0.92[EUR][1000 genomes]
rs57794226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58124341	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60019803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60106669	0.92[EUR][1000 genomes]
rs60856213	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7321391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7326885	0.81[AMR][1000 genomes]
rs7335016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7335310	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73483835	0.92[EUR][1000 genomes]
rs73485710	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs765291	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs765292	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7984711	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7989633	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7993631	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7993860	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7994062	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9535306	0.83[ASN][1000 genomes]
rs9562911	0.95[JPT][hapmap]
rs9591293	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9591294	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9591296	0.86[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596166	0.95[JPT][hapmap]
rs9596172	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9596173	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9596174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9596175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9596176	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9596181	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9596188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[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	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1818134	chr13:50306897-50374102	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv900074	chr13:50317104-50381016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1038	chr13:50324773-50359990	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv900075	chr13:50331992-50376858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266400-50349000	Weak transcription	Esophagus	oesophagus
2	chr13:50273200-50333800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:50290000-50334000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr13:50296600-50338600	Weak transcription	Ovary	ovary
5	chr13:50300600-50345600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:50302800-50333800	Weak transcription	Thymus	Thymus
7	chr13:50303200-50334000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:50306000-50351600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr13:50306200-50334200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr13:50306200-50336200	Weak transcription	Adipose Nuclei	Adipose
11	chr13:50306800-50333800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr13:50308000-50356000	Weak transcription	Fetal Kidney	kidney
13	chr13:50315200-50336000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr13:50317600-50343600	Weak transcription	Primary T cells from cord blood	blood
15	chr13:50318800-50333800	Weak transcription	NH-A	brain
16	chr13:50319600-50334800	Weak transcription	Fetal Lung	lung
17	chr13:50320400-50336800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:50320600-50333800	Weak transcription	Brain Hippocampus Middle	brain
19	chr13:50320600-50333800	Weak transcription	Fetal Stomach	stomach
20	chr13:50320600-50334800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:50320600-50334800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr13:50320600-50337400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:50320600-50337800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr13:50320800-50333800	Weak transcription	Primary B cells from cord blood	blood
25	chr13:50320800-50333800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr13:50320800-50340400	Weak transcription	HUVEC	blood vessel
27	chr13:50321000-50363800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr13:50321200-50333800	Weak transcription	Fetal Thymus	thymus
29	chr13:50321200-50333800	Weak transcription	Dnd41	blood
30	chr13:50324400-50340400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr13:50324600-50334600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:50324600-50350800	Weak transcription	HSMM	muscle
33	chr13:50324600-50351000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr13:50324800-50333800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:50324800-50338600	Weak transcription	Right Atrium	heart
36	chr13:50326200-50349000	Weak transcription	Left Ventricle	heart
37	chr13:50328200-50338600	Weak transcription	Right Ventricle	heart
38	chr13:50328400-50333800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:50328400-50333800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr13:50328400-50333800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr13:50328400-50338600	Weak transcription	Pancreas	Pancrea
42	chr13:50328400-50349000	Weak transcription	Lung	lung
43	chr13:50328600-50334000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr13:50328600-50349000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr13:50330600-50333800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr13:50330600-50334800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:50330800-50349000	Weak transcription	HepG2	liver
48	chr13:50332600-50333800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr13:50333000-50333800	Strong transcription	Fetal Intestine Large	intestine
50	chr13:50333000-50334400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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