Variant report

Variant	rs948847
Chromosome Location	chr11:57004344-57004345
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57002794..57004674-chr11:57309116..57311605,2	K562	blood:

Variant related genes	Relation type
ENSG00000214872	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10501367	0.86[JPT][hapmap]
rs10736682	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10792079	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11544374	0.86[JPT][hapmap]
rs1893675	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7119375	0.86[JPT][hapmap]
rs948844	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9943582	0.93[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs948847	TIMM10	cis	parietal	SCAN
rs948847	OR5M9	cis	cerebellum	SCAN
rs948847	OR8U1	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56998800-57004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:56998800-57005000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:56999200-57007800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:56999800-57004800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:57001000-57004600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
6	chr11:57001000-57004600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
7	chr11:57001200-57004600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
8	chr11:57002000-57004400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
9	chr11:57002000-57004600	Active TSS	Spleen	Spleen
10	chr11:57002200-57004400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:57002800-57004400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:57002800-57004400	Weak transcription	HSMM	muscle
13	chr11:57002800-57004600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
14	chr11:57003000-57004600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr11:57003000-57004600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
16	chr11:57003200-57004600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:57003200-57004800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:57003200-57007400	Weak transcription	HSMMtube	muscle
19	chr11:57003400-57004600	Weak transcription	Fetal Brain Male	brain
20	chr11:57003400-57004800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:57003400-57005000	Active TSS	Brain Cingulate Gyrus	brain
22	chr11:57003400-57005200	Enhancers	Lung	lung
23	chr11:57003400-57005400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:57003600-57004400	Weak transcription	Fetal Lung	lung
25	chr11:57003600-57004600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:57003600-57004600	Bivalent/Poised TSS	Fetal Kidney	kidney
27	chr11:57003600-57004600	Bivalent/Poised TSS	Fetal Stomach	stomach
28	chr11:57003600-57004600	Active TSS	Psoas Muscle	Psoas
29	chr11:57003800-57004400	Active TSS	Liver	Liver
30	chr11:57003800-57004600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:57003800-57004600	Active TSS	Brain Anterior Caudate	brain
32	chr11:57003800-57004600	Active TSS	Brain Substantia Nigra	brain
33	chr11:57003800-57004600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr11:57003800-57005400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:57003800-57005400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:57004000-57004400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:57004000-57004600	Flanking Bivalent TSS/Enh	Placenta	Placenta
38	chr11:57004000-57004800	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr11:57004200-57004400	Active TSS	Right Atrium	heart
40	chr11:57004200-57004600	Active TSS	Left Ventricle	heart
41	chr11:57004200-57004600	Active TSS	Right Ventricle	heart
42	chr11:57004200-57004800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr11:57004200-57004800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr11:57004200-57005200	Flanking Active TSS	K562	blood
45	chr11:57004200-57005400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:57004200-57005400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:57004200-57005600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr11:57004200-57009200	Weak transcription	Gastric	stomach

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