Variant report

Variant	rs12584506
Chromosome Location	chr13:94995443-94995444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12866362	1.00[YRI][hapmap]
rs1409177	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes]
rs17175273	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17175280	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17253843	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17253850	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17253885	1.00[YRI][hapmap]
rs72632655	1.00[EUR][1000 genomes]
rs72632656	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72632657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72632658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9556369	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv456077	chr13:94993032-95051560	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv562755	chr13:94993032-95051560	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94979800-94996800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:94980400-95000600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:94981800-94996600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:94983000-94996200	Weak transcription	HepG2	liver
5	chr13:94988200-94998000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:94990000-95003600	Weak transcription	Fetal Intestine Small	intestine
7	chr13:94990400-94996800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:94991400-94996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:94994200-94998400	Enhancers	Fetal Stomach	stomach
10	chr13:94994600-94997200	Enhancers	Fetal Muscle Leg	muscle
11	chr13:94994600-94997200	Enhancers	Ovary	ovary
12	chr13:94994600-94998200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr13:94994800-94995600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr13:94994800-94995600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:94994800-94997800	Enhancers	Liver	Liver
16	chr13:94994800-94998200	Enhancers	HSMM	muscle
17	chr13:94994800-94998200	Enhancers	HSMMtube	muscle
18	chr13:94995000-94995600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:94995000-94996000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:94995000-94996000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:94995000-94996000	Flanking Active TSS	NH-A	brain
22	chr13:94995000-94996600	Enhancers	Colon Smooth Muscle	Colon
23	chr13:94995000-94996600	Enhancers	Fetal Heart	heart
24	chr13:94995000-94997000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:94995000-94998400	Enhancers	NHDF-Ad	bronchial
26	chr13:94995200-94995600	Enhancers	Brain Germinal Matrix	brain
27	chr13:94995200-94995600	Weak transcription	Placenta	Placenta
28	chr13:94995200-94995800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:94995200-94996000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr13:94995200-94996800	Weak transcription	Fetal Thymus	thymus
31	chr13:94995200-94997000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr13:94995200-94997000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr13:94995200-94997200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr13:94995200-95004400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:94995400-94995600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr13:94995400-94995600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr13:94995400-94995600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr13:94995400-94995600	Weak transcription	Aorta	Aorta
39	chr13:94995400-94995600	Enhancers	Left Ventricle	heart
40	chr13:94995400-94995600	Enhancers	Rectal Smooth Muscle	rectum
41	chr13:94995400-94995800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:94995400-94995800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr13:94995400-94996000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr13:94995400-94996000	Enhancers	Brain Substantia Nigra	brain
45	chr13:94995400-94996000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr13:94995400-94996000	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr13:94995400-94996600	Enhancers	Osteobl	bone

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