Variant report

Variant	rs4938706
Chromosome Location	chr11:119539364-119539365
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119536475..119542158-chr11:119597745..119601129,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254854	Chromatin interaction
ENSG00000110400	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10790330	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10790332	0.84[EUR][1000 genomes]
rs1533051	0.84[EUR][1000 genomes]
rs4459318	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4938704	0.95[EUR][1000 genomes]
rs4938705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7118532	0.91[EUR][1000 genomes]
rs906830	0.84[EUR][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	chr11:119534800-119541400	Weak transcription	Fetal Lung	lung
13	chr11:119534800-119542600	Weak transcription	Fetal Kidney	kidney
14	chr11:119535000-119542000	Weak transcription	Fetal Thymus	thymus
15	chr11:119535000-119542400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:119535200-119541000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:119535200-119541000	Weak transcription	Brain Germinal Matrix	brain
18	chr11:119535200-119541600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:119535200-119542200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:119535200-119542400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:119535200-119542600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:119535200-119544200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:119535200-119552600	Weak transcription	HepG2	liver
24	chr11:119535600-119539400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:119536000-119539400	Enhancers	Brain Angular Gyrus	brain
26	chr11:119536000-119544000	Weak transcription	Fetal Intestine Large	intestine
27	chr11:119536200-119541800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:119536400-119542600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:119536400-119544000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:119537000-119541800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:119537000-119541800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:119537000-119541800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:119537000-119542400	Weak transcription	Spleen	Spleen
34	chr11:119537000-119542800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:119537200-119541600	Weak transcription	HSMMtube	muscle
36	chr11:119537400-119541800	Weak transcription	Osteobl	bone
37	chr11:119537600-119539800	Strong transcription	Fetal Intestine Small	intestine
38	chr11:119537600-119541600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:119537600-119541600	Weak transcription	HSMM	muscle
40	chr11:119537600-119541800	Weak transcription	Adipose Nuclei	Adipose
41	chr11:119537600-119541800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:119537600-119542000	Weak transcription	Liver	Liver
43	chr11:119537600-119542200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:119537600-119542200	Weak transcription	Stomach Mucosa	stomach
45	chr11:119537600-119542400	Weak transcription	Pancreas	Pancrea
46	chr11:119537600-119542600	Weak transcription	Gastric	stomach
47	chr11:119537600-119544200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr11:119537800-119539800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:119537800-119540000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:119537800-119541600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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