Variant report

Variant	rs11217403
Chromosome Location	chr11:119563617-119563618
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119556235..119560513-chr11:119562313..119564680,4	K562	blood:
2	chr11:119547483..119549094-chr11:119561602..119563643,2	K562	blood:
3	chr11:119556235..119559099-chr11:119563178..119564680,2	K562	blood:

Variant related genes	Relation type
ENSG00000110400	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10892430	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10892431	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892432	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217386	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217389	1.00[ASN][1000 genomes]
rs11217391	1.00[EUR][1000 genomes]
rs11217394	1.00[ASN][1000 genomes]
rs11217396	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217398	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217399	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217400	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217401	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217402	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217406	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217407	1.00[ASN][1000 genomes]
rs11217409	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217412	0.93[ASN][1000 genomes]
rs11217425	1.00[EUR][1000 genomes]
rs11217485	1.00[EUR][1000 genomes]
rs11217498	1.00[EUR][1000 genomes]
rs11600941	1.00[EUR][1000 genomes]
rs11822242	1.00[EUR][1000 genomes]
rs12222517	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12279707	1.00[EUR][1000 genomes]
rs12281756	1.00[EUR][1000 genomes]
rs12282037	1.00[EUR][1000 genomes]
rs17123203	1.00[ASN][1000 genomes]
rs4424680	1.00[EUR][1000 genomes]
rs57088022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58117702	1.00[ASN][1000 genomes]
rs59997117	1.00[EUR][1000 genomes]
rs60295158	1.00[EUR][1000 genomes]
rs60865388	0.96[ASN][1000 genomes]
rs73575046	1.00[EUR][1000 genomes]
rs7927749	1.00[EUR][1000 genomes]
rs7936254	1.00[EUR][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	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv984471	chr11:119505802-119568473	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119550200-119567400	Enhancers	Esophagus	oesophagus
2	chr11:119551600-119567400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:119553800-119565200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:119554600-119566400	Enhancers	Fetal Muscle Leg	muscle
5	chr11:119555800-119563800	Weak transcription	Small Intestine	intestine
6	chr11:119555800-119564200	Weak transcription	Stomach Mucosa	stomach
7	chr11:119555800-119568800	Weak transcription	Left Ventricle	heart
8	chr11:119556000-119568600	Weak transcription	Right Atrium	heart
9	chr11:119556000-119571600	Weak transcription	NHLF	lung
10	chr11:119556600-119564800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:119556600-119565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:119559000-119567200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:119559400-119566200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr11:119559800-119570200	Enhancers	Fetal Thymus	thymus
15	chr11:119560000-119564400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr11:119560400-119564000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:119560400-119566400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr11:119560400-119567800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:119560400-119569600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:119561000-119565600	Enhancers	Thymus	Thymus
21	chr11:119561000-119580600	Weak transcription	Fetal Kidney	kidney
22	chr11:119561200-119567800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:119561400-119565400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:119561400-119565400	Enhancers	Brain Germinal Matrix	brain
25	chr11:119561400-119566400	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:119561400-119568800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:119561600-119565600	Enhancers	GM12878-XiMat	blood
28	chr11:119561800-119564000	Bivalent Enhancer	Fetal Stomach	stomach
29	chr11:119561800-119564600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:119561800-119565200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr11:119561800-119565200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:119561800-119566400	Enhancers	Brain Angular Gyrus	brain
33	chr11:119561800-119566400	Enhancers	Brain Cingulate Gyrus	brain
34	chr11:119561800-119568400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr11:119561800-119568800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr11:119561800-119577600	Enhancers	Brain Hippocampus Middle	brain
37	chr11:119562000-119564400	Enhancers	Fetal Brain Female	brain
38	chr11:119562000-119564600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:119562000-119565400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr11:119562000-119565800	Enhancers	Brain Anterior Caudate	brain
41	chr11:119562000-119566400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:119562000-119568600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr11:119562000-119578400	Enhancers	Duodenum Mucosa	Duodenum
44	chr11:119562200-119564600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:119562200-119564600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr11:119562200-119564600	Enhancers	Fetal Brain Male	brain
47	chr11:119562200-119565200	Weak transcription	Primary B cells from cord blood	blood
48	chr11:119562200-119566600	Enhancers	Brain Substantia Nigra	brain
49	chr11:119562400-119564200	Weak transcription	Lung	lung
50	chr11:119562400-119564400	Weak transcription	Dnd41	blood

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