Variant report

Variant	rs11217391
Chromosome Location	chr11:119553209-119553210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119551416..119553458-chr11:119566192..119569088,2	MCF-7	breast:
2	chr11:119551176..119553833-chr11:119555114..119557343,2	K562	blood:
3	chr11:119527766..119529930-chr11:119552583..119555005,2	MCF-7	breast:
4	chr11:119550355..119557178-chr11:119597809..119601667,9	MCF-7	breast:
5	chr11:119543570..119545127-chr11:119552046..119553908,2	MCF-7	breast:
6	chr11:119548530..119557660-chr11:119596856..119602607,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254854	Chromatin interaction
ENSG00000110400	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10892431	1.00[EUR][1000 genomes]
rs11217398	1.00[EUR][1000 genomes]
rs11217399	1.00[EUR][1000 genomes]
rs11217400	1.00[EUR][1000 genomes]
rs11217401	1.00[EUR][1000 genomes]
rs11217403	1.00[EUR][1000 genomes]
rs11217406	1.00[EUR][1000 genomes]
rs11217409	1.00[EUR][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]
rs12279707	1.00[EUR][1000 genomes]
rs12281756	1.00[EUR][1000 genomes]
rs12282037	1.00[EUR][1000 genomes]
rs4424680	1.00[EUR][1000 genomes]
rs57088022	1.00[EUR][1000 genomes]
rs59997117	1.00[EUR][1000 genomes]
rs60295158	1.00[EUR][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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119547800-119554800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:119547800-119555400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:119548000-119555000	Weak transcription	Osteobl	bone
4	chr11:119548200-119554600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:119548800-119554600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:119549000-119554600	Weak transcription	A549	lung
7	chr11:119549000-119554800	Weak transcription	NHLF	lung
8	chr11:119549000-119555400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:119549200-119554800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:119549400-119553800	Weak transcription	GM12878-XiMat	blood
11	chr11:119549400-119554000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:119549400-119554600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:119549400-119554600	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:119549400-119554600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:119549400-119554800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:119549400-119554800	Weak transcription	Fetal Intestine Large	intestine
17	chr11:119549400-119555000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:119549400-119555200	Weak transcription	Fetal Brain Female	brain
19	chr11:119549400-119558200	Weak transcription	Ovary	ovary
20	chr11:119549600-119553800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:119549600-119554000	Enhancers	Fetal Muscle Leg	muscle
22	chr11:119549600-119554600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:119549600-119554800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:119549600-119554800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:119549600-119554800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:119549600-119555000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:119549600-119555200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:119549800-119554800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:119550000-119554200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:119550000-119555400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:119550000-119555400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:119550000-119556200	Enhancers	Placenta	Placenta
33	chr11:119550200-119557200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr11:119550200-119567400	Enhancers	Esophagus	oesophagus
35	chr11:119550400-119553800	Enhancers	Brain Cingulate Gyrus	brain
36	chr11:119550400-119554800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:119550600-119555200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:119550800-119559400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr11:119551000-119553800	Enhancers	Brain Germinal Matrix	brain
40	chr11:119551200-119553400	Enhancers	Fetal Thymus	thymus
41	chr11:119551200-119554800	Enhancers	HMEC	breast
42	chr11:119551200-119555800	Enhancers	Left Ventricle	heart
43	chr11:119551200-119556000	Enhancers	Brain Hippocampus Middle	brain
44	chr11:119551200-119558200	Enhancers	Pancreas	Pancrea
45	chr11:119551400-119553400	Enhancers	Fetal Brain Male	brain
46	chr11:119551400-119554600	Enhancers	Fetal Heart	heart
47	chr11:119551600-119554400	Weak transcription	Fetal Kidney	kidney
48	chr11:119551600-119567400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:119551800-119554600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:119551800-119554800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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