Variant report

Variant	rs4647751
Chromosome Location	chr11:47256482-47256483
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47255922..47259235-chr11:47289768..47291804,3	MCF-7	breast:
2	chr11:47254998..47256741-chr11:47266407..47268575,2	K562	blood:
3	chr11:47251551..47253221-chr11:47255749..47257374,2	K562	blood:
4	chr11:47207072..47208935-chr11:47255110..47257481,3	MCF-7	breast:
5	chr11:47234544..47240299-chr11:47253173..47262641,20	MCF-7	breast:
6	chr11:47249459..47253221-chr11:47254419..47257374,3	K562	blood:
7	chr11:47235195..47238738-chr11:47253063..47257096,4	K562	blood:
8	chr11:47209362..47211566-chr11:47254961..47257621,2	MCF-7	breast:
9	chr11:47240491..47243810-chr11:47254933..47257331,3	MCF-7	breast:
10	chr11:47254425..47257069-chr11:47279237..47281162,2	MCF-7	breast:
11	chr11:47254714..47257684-chr11:47290232..47292284,2	MCF-7	breast:
12	chr11:47255507..47257746-chr11:47267199..47270401,3	MCF-7	breast:
13	chr11:47235195..47238586-chr11:47253063..47256921,3	K562	blood:
14	chr11:47255623..47256557-chr11:47376503..47377353,4	MCF-7	breast:
15	chr11:47198652..47199517-chr11:47255469..47256499,3	MCF-7	breast:
16	chr11:47250850..47253100-chr11:47255691..47257332,2	MCF-7	breast:
17	chr11:47240521..47243855-chr11:47254261..47256782,3	MCF-7	breast:
18	chr11:47234810..47237015-chr11:47256383..47258909,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165912	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000256897	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11039069	1.00[LWK][hapmap]
rs11570045	1.00[CHB][hapmap]
rs11570060	1.00[CHB][hapmap]
rs11570082	1.00[CHB][hapmap]
rs11570113	1.00[CHB][hapmap]
rs2856655	1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]
rs3729799	1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]
rs3729952	1.00[CHB][hapmap]
rs4647764	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47238400-47269400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47238600-47259600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:47238600-47261000	Weak transcription	Small Intestine	intestine
4	chr11:47240000-47260200	Weak transcription	Fetal Brain Female	brain
5	chr11:47240200-47266600	Weak transcription	Fetal Brain Male	brain
6	chr11:47242200-47258200	Weak transcription	Fetal Lung	lung
7	chr11:47242400-47257800	Weak transcription	K562	blood
8	chr11:47242400-47258000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:47242400-47258000	Weak transcription	Primary B cells from cord blood	blood
10	chr11:47242400-47269200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:47242600-47259600	Weak transcription	Brain Germinal Matrix	brain
12	chr11:47242600-47260200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:47243600-47269200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:47246200-47256600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:47246400-47256800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:47246600-47267800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:47247400-47267600	Strong transcription	Thymus	Thymus
18	chr11:47247800-47256600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:47248200-47258600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:47248200-47259400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:47248200-47265200	Strong transcription	GM12878-XiMat	blood
22	chr11:47248600-47260800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:47249400-47259400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:47251200-47259400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:47252000-47259600	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:47253800-47258200	Strong transcription	Fetal Stomach	stomach
27	chr11:47254000-47264600	Strong transcription	Dnd41	blood
28	chr11:47254200-47256800	Enhancers	Stomach Mucosa	stomach
29	chr11:47254200-47258800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:47254400-47256600	Genic enhancers	NHDF-Ad	bronchial
31	chr11:47254400-47257200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr11:47254400-47257200	Strong transcription	Primary T cells from cord blood	blood
33	chr11:47254600-47257000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr11:47254600-47257200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:47254600-47258200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:47254600-47267800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:47254800-47257400	Genic enhancers	HMEC	breast
38	chr11:47254800-47259200	Weak transcription	Lung	lung
39	chr11:47254800-47259400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:47254800-47259400	Weak transcription	Esophagus	oesophagus
41	chr11:47254800-47261000	Weak transcription	Ovary	ovary
42	chr11:47255000-47256800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:47255200-47257200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:47255200-47257200	Genic enhancers	NHLF	lung
45	chr11:47255400-47256600	Enhancers	Brain Hippocampus Middle	brain
46	chr11:47255400-47256800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:47255400-47257000	Enhancers	HSMMtube	muscle
48	chr11:47255400-47257200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:47255400-47262000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:47255400-47269200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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