Variant report

Variant	rs11605061
Chromosome Location	chr11:47565336-47565337
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47556325..47561893-chr11:47562676..47568878,7	K562	blood:
2	chr11:47564735..47568693-chr11:47572355..47576179,6	K562	blood:
3	chr11:47563416..47566124-chr11:47662015..47664163,2	MCF-7	breast:
4	chr11:47565208..47567772-chr11:47587108..47588615,2	MCF-7	breast:
5	chr11:47529126..47530970-chr11:47562135..47565880,3	K562	blood:

Variant related genes	Relation type
ENSG00000110536	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000109919	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11039358	1.00[CEU][hapmap]
rs11537751	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11600974	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs11601083	0.82[AMR][1000 genomes]
rs11601200	1.00[AMR][1000 genomes]
rs11601934	0.91[AMR][1000 genomes]
rs11602333	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11602837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11603587	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11603911	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11604233	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11607518	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11607855	0.91[AMR][1000 genomes]
rs11608017	1.00[AFR][1000 genomes]
rs2278890	1.00[YRI][hapmap]
rs2903989	1.00[CEU][hapmap]
rs34603363	0.91[AMR][1000 genomes]
rs36016346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7113438	1.00[AFR][1000 genomes]
rs7945021	0.91[AMR][1000 genomes]
rs9089	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:116 , 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	chr11:47557600-47565600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:47557800-47567000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:47558400-47572600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr11:47558800-47565600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr11:47559000-47566200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr11:47559000-47567000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:47559000-47571800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:47559400-47566200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr11:47559600-47572600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr11:47560400-47567400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr11:47560800-47565400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:47560800-47566000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:47560800-47566600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr11:47561000-47567000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:47561400-47568000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:47561600-47565600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:47561600-47573200	Weak transcription	Placenta	Placenta
25	chr11:47561800-47566800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:47562000-47565600	Weak transcription	Brain Anterior Caudate	brain
27	chr11:47562000-47565600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:47562000-47565800	Weak transcription	HepG2	liver
29	chr11:47562000-47568000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:47562000-47570600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:47562000-47571800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:47562000-47572600	Weak transcription	Brain Substantia Nigra	brain
33	chr11:47562200-47565600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:47562200-47567800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:47562200-47569000	Weak transcription	Pancreas	Pancrea
36	chr11:47562200-47571200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:47562200-47572000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:47562200-47572600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:47562200-47572800	Weak transcription	Fetal Kidney	kidney
40	chr11:47562400-47569200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:47562400-47572200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:47562600-47565600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:47562600-47565600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:47562600-47566400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:47562600-47568000	Weak transcription	Small Intestine	intestine
46	chr11:47562600-47569200	Weak transcription	A549	lung
47	chr11:47562600-47569400	Weak transcription	Primary B cells from cord blood	blood
48	chr11:47562600-47570600	Weak transcription	Fetal Brain Female	brain
49	chr11:47562600-47570800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:47562600-47571600	Weak transcription	Right Atrium	heart

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