Variant report

Variant	rs4647745
Chromosome Location	chr11:47254699-47254700
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47253032..47256310-chr11:47277648..47280941,3	MCF-7	breast:
2	chr11:47252711..47255857-chr11:47290010..47293384,5	MCF-7	breast:
3	chr11:47234544..47240299-chr11:47253173..47262641,20	MCF-7	breast:
4	chr11:47254323..47256222-chr11:47256983..47259410,2	MCF-7	breast:
5	chr11:47253884..47256462-chr11:47268620..47272796,4	K562	blood:
6	chr11:47249459..47253221-chr11:47254419..47257374,3	K562	blood:
7	chr11:47235195..47238738-chr11:47253063..47257096,4	K562	blood:
8	chr11:47253350..47256104-chr11:47295633..47299612,4	MCF-7	breast:
9	chr11:47254425..47257069-chr11:47279237..47281162,2	MCF-7	breast:
10	chr11:47235195..47238586-chr11:47253063..47256921,3	K562	blood:
11	chr11:47240521..47243855-chr11:47254261..47256782,3	MCF-7	breast:

No data

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11039213	1.00[AMR][1000 genomes]
rs11039229	1.00[AMR][1000 genomes]
rs11570119	0.89[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2010519	1.00[AMR][1000 genomes]
rs2053978	1.00[AMR][1000 genomes]
rs34037785	1.00[AMR][1000 genomes]
rs4647717	1.00[AMR][1000 genomes]
rs58880275	1.00[AMR][1000 genomes]
rs59693089	1.00[AMR][1000 genomes]
rs59726655	1.00[AMR][1000 genomes]
rs60183400	1.00[AMR][1000 genomes]
rs7123107	1.00[AMR][1000 genomes]
rs7948616	0.83[LWK][hapmap]
rs7950077	1.00[AMR][1000 genomes]
rs896814	1.00[AMR][1000 genomes]

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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47238400-47255800	Weak transcription	Brain Anterior Caudate	brain
2	chr11:47238400-47269400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47238600-47255400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:47238600-47255400	Weak transcription	Right Ventricle	heart
5	chr11:47238600-47255600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:47238600-47255800	Weak transcription	Brain Substantia Nigra	brain
7	chr11:47238600-47255800	Weak transcription	Right Atrium	heart
8	chr11:47238600-47256000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:47238600-47259600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:47238600-47261000	Weak transcription	Small Intestine	intestine
11	chr11:47239400-47255000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:47239800-47255600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:47239800-47255600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:47240000-47260200	Weak transcription	Fetal Brain Female	brain
15	chr11:47240200-47255400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:47240200-47255600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:47240200-47255800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:47240200-47256000	Weak transcription	Gastric	stomach
19	chr11:47240200-47266600	Weak transcription	Fetal Brain Male	brain
20	chr11:47240400-47255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:47241400-47255600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:47241800-47256000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:47242000-47255800	Weak transcription	Left Ventricle	heart
24	chr11:47242200-47255400	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:47242200-47258200	Weak transcription	Fetal Lung	lung
26	chr11:47242400-47256000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:47242400-47257800	Weak transcription	K562	blood
28	chr11:47242400-47258000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:47242400-47258000	Weak transcription	Primary B cells from cord blood	blood
30	chr11:47242400-47269200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:47242600-47259600	Weak transcription	Brain Germinal Matrix	brain
32	chr11:47242600-47260200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:47242800-47255200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:47243000-47255600	Weak transcription	Fetal Heart	heart
35	chr11:47243600-47269200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:47244400-47255400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:47245400-47255400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:47246200-47255400	Weak transcription	HSMM	muscle
39	chr11:47246200-47256600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:47246400-47255000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:47246400-47256800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:47246600-47267800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:47246800-47256200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:47247200-47255000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr11:47247400-47267600	Strong transcription	Thymus	Thymus
46	chr11:47247800-47256000	Weak transcription	Hela-S3	cervix
47	chr11:47247800-47256600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:47248200-47255200	Weak transcription	NH-A	brain
49	chr11:47248200-47255800	Weak transcription	Colonic Mucosa	Colon
50	chr11:47248200-47258600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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