Variant report

Variant	rs7336547
Chromosome Location	chr13:110992985-110992986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4773158	1.00[AMR][1000 genomes]
rs4773162	0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4773163	0.90[YRI][hapmap]
rs551212	1.00[CHD][hapmap]
rs552125	1.00[CHD][hapmap]
rs595325	1.00[CHD][hapmap]
rs668149	1.00[CHD][hapmap]
rs7331163	0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7984789	1.00[CHD][hapmap]
rs9521727	1.00[CHD][hapmap]

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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1049454	chr13:110950768-111006547	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110972600-111007200	Weak transcription	Gastric	stomach
2	chr13:110972800-110995000	Weak transcription	Esophagus	oesophagus
3	chr13:110974000-110993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:110980200-110993000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:110980200-110995400	Weak transcription	A549	lung
6	chr13:110980200-111002800	Weak transcription	Fetal Brain Male	brain
7	chr13:110986600-110993000	Enhancers	Right Atrium	heart
8	chr13:110986600-110994400	Enhancers	Ovary	ovary
9	chr13:110987600-110993200	Enhancers	Left Ventricle	heart
10	chr13:110987600-110993800	Weak transcription	NHEK	skin
11	chr13:110988200-110994200	Enhancers	Fetal Heart	heart
12	chr13:110988200-110996000	Enhancers	Right Ventricle	heart
13	chr13:110988600-110994400	Enhancers	NHDF-Ad	bronchial
14	chr13:110988800-110993000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr13:110988800-110993000	Enhancers	HUVEC	blood vessel
16	chr13:110988800-110994200	Enhancers	Aorta	Aorta
17	chr13:110989200-110994800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:110989600-110994400	Enhancers	Fetal Kidney	kidney
19	chr13:110989600-110995200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr13:110989800-110993600	Weak transcription	Psoas Muscle	Psoas
21	chr13:110989800-110999200	Weak transcription	Pancreas	Pancrea
22	chr13:110990000-110993800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:110990200-110994600	Enhancers	Fetal Stomach	stomach
24	chr13:110990400-110993600	Weak transcription	Stomach Mucosa	stomach
25	chr13:110990600-110994000	Enhancers	Fetal Muscle Trunk	muscle
26	chr13:110990600-110994200	Enhancers	Lung	lung
27	chr13:110990800-110993400	Weak transcription	Fetal Intestine Small	intestine
28	chr13:110991000-110993000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:110991200-110993000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr13:110991200-110995000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:110991400-110993000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr13:110991400-110993800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:110991400-110994200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr13:110991400-110995400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr13:110991400-110995800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr13:110991600-110993800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr13:110991600-110995400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr13:110991600-110995800	Weak transcription	Brain Anterior Caudate	brain
39	chr13:110991800-110993000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr13:110991800-110993200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:110991800-110993600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr13:110991800-110993600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:110991800-110994000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr13:110992000-110993000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr13:110992000-110993000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr13:110992000-110993000	Enhancers	Placenta	Placenta
47	chr13:110992000-110993000	Enhancers	HMEC	breast
48	chr13:110992000-110993400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr13:110992000-110999200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:110992000-111001600	Weak transcription	Brain Substantia Nigra	brain

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