Variant report

Variant	rs11217384
Chromosome Location	chr11:119537525-119537526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:119536842..119537804-chr11:119978567..119979208,6	K562	blood:
2	chr11:119537085..119537780-chr11:119599470..119600706,4	MCF-7	breast:
3	chr11:119351963..119352520-chr11:119537162..119537779,2	MCF-7	breast:
4	chr11:119536864..119537801-chr11:119611746..119612718,4	MCF-7	breast:
5	chr11:119537222..119537812-chr11:119598187..119599149,2	MCF-7	breast:
6	chr11:119537219..119537738-chr11:119611684..119612227,2	K562	blood:
7	chr11:119536949..119537719-chr11:119883693..119884201,2	MCF-7	breast:
8	chr11:119537073..119537734-chr11:120039596..120040480,3	MCF-7	breast:
9	chr11:119536903..119537785-chr11:119599730..119600710,3	K562	blood:
10	chr11:119536475..119542158-chr11:119597745..119601129,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000176984	Chromatin interaction
ENSG00000254854	Chromatin interaction
ENSG00000110400	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11217380	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11217383	1.00[EUR][1000 genomes];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	nsv1042460	chr11:119430954-119540452	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv898420	chr11:119488646-119541332	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119523200-119541800	Weak transcription	Left Ventricle	heart
2	chr11:119530200-119546000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:119530400-119541600	Weak transcription	Small Intestine	intestine
4	chr11:119531000-119542000	Weak transcription	Colonic Mucosa	Colon
5	chr11:119531200-119541800	Weak transcription	Fetal Heart	heart
6	chr11:119531800-119539800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:119532400-119541200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:119532400-119544400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr11:119532800-119541800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:119533000-119542000	Weak transcription	Right Atrium	heart
11	chr11:119533000-119543400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:119533200-119537600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:119534200-119538400	Genic enhancers	Fetal Stomach	stomach
14	chr11:119534600-119538200	Genic enhancers	Fetal Muscle Leg	muscle
15	chr11:119534600-119538800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:119534800-119538400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:119534800-119541400	Weak transcription	Fetal Lung	lung
18	chr11:119534800-119542600	Weak transcription	Fetal Kidney	kidney
19	chr11:119535000-119542000	Weak transcription	Fetal Thymus	thymus
20	chr11:119535000-119542400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:119535200-119541000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:119535200-119541000	Weak transcription	Brain Germinal Matrix	brain
23	chr11:119535200-119541600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:119535200-119542200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:119535200-119542400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:119535200-119542600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:119535200-119544200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:119535200-119552600	Weak transcription	HepG2	liver
29	chr11:119535600-119539400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:119535800-119537800	Genic enhancers	HMEC	breast
31	chr11:119536000-119538200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:119536000-119538400	Strong transcription	Fetal Brain Female	brain
33	chr11:119536000-119539400	Enhancers	Brain Angular Gyrus	brain
34	chr11:119536000-119544000	Weak transcription	Fetal Intestine Large	intestine
35	chr11:119536200-119537800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:119536200-119537800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:119536200-119537800	Genic enhancers	NHEK	skin
38	chr11:119536200-119538200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr11:119536200-119541800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:119536400-119538000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:119536400-119538400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:119536400-119542600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:119536400-119544000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:119536600-119537800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:119536600-119538200	Genic enhancers	Esophagus	oesophagus
46	chr11:119536800-119537600	Enhancers	Gastric	stomach
47	chr11:119536800-119537600	Enhancers	Stomach Mucosa	stomach
48	chr11:119536800-119537600	Enhancers	HSMM	muscle
49	chr11:119536800-119537800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:119536800-119538200	Enhancers	Stomach Smooth Muscle	stomach

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