Variant report

Variant	rs8000556
Chromosome Location	chr13:67802339-67802340
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1325675	0.90[EUR][1000 genomes]
rs1570892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1590522	0.97[YRI][hapmap]
rs1927820	0.97[YRI][hapmap]
rs2031864	0.97[YRI][hapmap];0.89[AFR][1000 genomes]
rs4242930	0.92[EUR][1000 genomes]
rs4354805	0.82[EUR][1000 genomes]
rs4614602	0.90[EUR][1000 genomes]
rs7318837	0.90[YRI][hapmap];0.89[AFR][1000 genomes]
rs7332095	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs7334490	0.93[YRI][hapmap];0.91[AFR][1000 genomes]
rs8000565	0.96[YRI][hapmap]
rs9317652	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs9317653	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs9317654	0.87[AFR][1000 genomes]
rs9317657	0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs9529205	0.89[AFR][1000 genomes]
rs9541030	0.93[YRI][hapmap]
rs9564380	0.97[YRI][hapmap]
rs994245	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67795400-67805600	Active TSS	Brain Substantia Nigra	brain
2	chr13:67796200-67803000	Weak transcription	Gastric	stomach
3	chr13:67796200-67806000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr13:67796200-67806200	Active TSS	Brain Angular Gyrus	brain
5	chr13:67797200-67806000	Active TSS	Right Ventricle	heart
6	chr13:67797600-67806200	Active TSS	Fetal Kidney	kidney
7	chr13:67798600-67802400	Weak transcription	HSMMtube	muscle
8	chr13:67798600-67802400	Weak transcription	NHDF-Ad	bronchial
9	chr13:67798600-67802600	Weak transcription	HUVEC	blood vessel
10	chr13:67798600-67802600	Weak transcription	Osteobl	bone
11	chr13:67798600-67802800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:67798600-67803000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:67798600-67803200	Weak transcription	K562	blood
14	chr13:67798800-67802400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr13:67798800-67802600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr13:67798800-67803000	Weak transcription	Colon Smooth Muscle	Colon
17	chr13:67799400-67802600	Transcr. at gene 5' and 3'	HSMM	muscle
18	chr13:67799600-67802400	Transcr. at gene 5' and 3'	A549	lung
19	chr13:67799600-67802800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:67799800-67805800	Active TSS	Brain Anterior Caudate	brain
21	chr13:67799800-67805800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:67800200-67803600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:67800200-67805600	Active TSS	Fetal Brain Female	brain
24	chr13:67800200-67806000	Active TSS	Left Ventricle	heart
25	chr13:67800400-67806000	Active TSS	Brain Hippocampus Middle	brain
26	chr13:67800600-67802400	Enhancers	Fetal Heart	heart
27	chr13:67800600-67802400	Weak transcription	Fetal Stomach	stomach
28	chr13:67800600-67803000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:67800600-67803800	Active TSS	Stomach Smooth Muscle	stomach
30	chr13:67800800-67804200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:67800800-67806600	Active TSS	Brain Cingulate Gyrus	brain
32	chr13:67801000-67802400	Enhancers	Dnd41	blood
33	chr13:67801000-67802600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr13:67801200-67802600	Active TSS	Fetal Brain Male	brain
35	chr13:67801200-67802800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr13:67801200-67810000	Active TSS	Right Atrium	heart
37	chr13:67801400-67802400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:67801400-67802400	Enhancers	Primary B cells from peripheral blood	blood
39	chr13:67801400-67802400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr13:67801600-67802600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:67801600-67803600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr13:67801600-67808400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr13:67801800-67802400	Enhancers	Psoas Muscle	Psoas
44	chr13:67801800-67803000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr13:67801800-67803200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr13:67802000-67802400	Enhancers	Aorta	Aorta
47	chr13:67802000-67802400	Enhancers	Fetal Lung	lung
48	chr13:67802000-67802600	Enhancers	Liver	Liver
49	chr13:67802000-67803200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:67802000-67805200	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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