Variant report

Variant	rs7944166
Chromosome Location	chr11:47571565-47571566
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47531749..47534788-chr11:47570653..47573178,3	K562	blood:
2	chr11:47571371..47576564-chr11:47585605..47588889,10	MCF-7	breast:
3	chr11:47571288..47573771-chr11:47598526..47602106,3	MCF-7	breast:
4	chr11:47569413..47573933-chr11:47586162..47588925,4	K562	blood:
5	chr11:47560397..47563182-chr11:47569730..47573934,4	K562	blood:
6	chr11:47571551..47573073-chr11:47597137..47598833,2	MCF-7	breast:
7	chr11:47571243..47573652-chr11:47580748..47583116,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231880	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000200376	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73461796	1.00[ASN][1000 genomes]

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	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47546000-47572400	Weak transcription	Fetal Intestine Large	intestine
2	chr11:47546400-47573400	Weak transcription	Colonic Mucosa	Colon
3	chr11:47546400-47573600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47553000-47573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:47554400-47572400	Weak transcription	Aorta	Aorta
6	chr11:47554800-47571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:47554800-47572400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:47558400-47572600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:47559000-47571800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:47559600-47572600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr11:47561600-47573200	Weak transcription	Placenta	Placenta
12	chr11:47562000-47571800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:47562000-47572600	Weak transcription	Brain Substantia Nigra	brain
14	chr11:47562200-47572000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:47562200-47572600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:47562200-47572800	Weak transcription	Fetal Kidney	kidney
17	chr11:47562400-47572200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:47562600-47571600	Weak transcription	Right Atrium	heart
19	chr11:47562600-47571800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:47562600-47572400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:47562600-47572400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:47562600-47572400	Weak transcription	Right Ventricle	heart
23	chr11:47562600-47573200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:47562800-47572200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:47562800-47572200	Weak transcription	NH-A	brain
26	chr11:47562800-47572200	Weak transcription	NHLF	lung
27	chr11:47562800-47572400	Weak transcription	Stomach Mucosa	stomach
28	chr11:47562800-47572400	Weak transcription	NHDF-Ad	bronchial
29	chr11:47563000-47572000	Weak transcription	HMEC	breast
30	chr11:47563000-47572000	Weak transcription	HSMM	muscle
31	chr11:47563800-47571600	Weak transcription	Fetal Brain Male	brain
32	chr11:47564400-47572600	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:47564800-47573200	Weak transcription	Esophagus	oesophagus
34	chr11:47565000-47571600	Weak transcription	Left Ventricle	heart
35	chr11:47565000-47571600	Weak transcription	Spleen	Spleen
36	chr11:47565000-47571800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:47565000-47572800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:47565000-47573200	Weak transcription	Ovary	ovary
39	chr11:47565400-47571800	Weak transcription	Thymus	Thymus
40	chr11:47566000-47571600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:47566200-47573800	Weak transcription	Gastric	stomach
42	chr11:47567000-47571600	Weak transcription	Brain Angular Gyrus	brain
43	chr11:47567200-47572600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:47567800-47572800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:47567800-47573000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr11:47568000-47572200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:47568000-47572400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:47568200-47572000	Genic enhancers	Hela-S3	cervix
49	chr11:47568200-47572600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr11:47568200-47572600	Enhancers	Adipose Nuclei	Adipose

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