Variant report

Variant	rs4647709
Chromosome Location	chr11:47237359-47237360
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47223065..47227984-chr11:47233675..47238356,6	MCF-7	breast:
2	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
3	chr11:47236414..47239398-chr11:47265054..47267561,5	K562	blood:
4	chr11:47215549..47217422-chr11:47236741..47239012,3	MCF-7	breast:
5	chr11:47196838..47200214-chr11:47234555..47238435,7	MCF-7	breast:
6	chr11:47236785..47238628-chr11:47265300..47267561,2	K562	blood:
7	chr11:47235800..47238158-chr11:47268993..47270943,3	MCF-7	breast:
8	chr11:47214149..47216188-chr11:47236572..47238228,2	K562	blood:
9	chr11:47235321..47238553-chr11:47290387..47292949,4	K562	blood:
10	chr11:47236760..47239573-chr11:47432455..47434658,2	K562	blood:
11	chr11:47226100..47227743-chr11:47235838..47237503,2	MCF-7	breast:
12	chr11:47237231..47237872-chr16:89555418..89556384,2	MCF-7	breast:
13	chr11:47205217..47215436-chr11:47233934..47241095,26	MCF-7	breast:
14	chr11:47236332..47238351-chr11:47265199..47266819,2	MCF-7	breast:
15	chr11:47234882..47238296-chr11:47268822..47272499,5	MCF-7	breast:
16	chr11:47237018..47238974-chr11:47241845..47244358,3	K562	blood:
17	chr11:47236484..47238469-chr11:47432322..47435260,2	MCF-7	breast:
18	chr11:47235151..47238129-chr11:47286989..47291992,5	MCF-7	breast:
19	chr11:47197774..47202059-chr11:47234538..47239113,7	MCF-7	breast:
20	chr11:47235395..47237642-chr11:47289103..47291887,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000149182	Chromatin interaction
ENSG00000167522	Chromatin interaction
ENSG00000266540	Chromatin interaction
ENSG00000256897	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000243802	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000025434	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10838696	1.00[LWK][hapmap]
rs11570057	1.00[ASN][1000 genomes]
rs11607429	1.00[ASN][1000 genomes]
rs1352307	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17787930	1.00[ASN][1000 genomes]
rs2087215	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs4463814	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896127	1.00[ASN][1000 genomes]
rs61899280	1.00[ASN][1000 genomes]
rs61899282	1.00[ASN][1000 genomes]
rs61899283	1.00[ASN][1000 genomes]
rs61899292	1.00[ASN][1000 genomes]
rs749067	1.00[LWK][hapmap]
rs7950753	1.00[LWK][hapmap];1.00[MKK][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47235400-47237600	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:47235600-47237400	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:47235600-47237400	Active TSS	Thymus	Thymus
4	chr11:47235600-47237600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr11:47235600-47237600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:47235600-47237800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:47235600-47238000	Active TSS	Colon Smooth Muscle	Colon
8	chr11:47235600-47238000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:47235600-47238000	Active TSS	A549	lung
10	chr11:47235600-47238200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:47235600-47238200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:47235600-47238200	Active TSS	GM12878-XiMat	blood
13	chr11:47235600-47238400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr11:47235600-47238400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr11:47235600-47238400	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr11:47235800-47237400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr11:47235800-47237600	Active TSS	Left Ventricle	heart
18	chr11:47235800-47237600	Active TSS	Psoas Muscle	Psoas
19	chr11:47235800-47237800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:47235800-47237800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:47235800-47237800	Active TSS	Pancreas	Pancrea
22	chr11:47235800-47238000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:47235800-47238000	Active TSS	Esophagus	oesophagus
24	chr11:47235800-47238000	Active TSS	Lung	lung
25	chr11:47235800-47238200	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr11:47235800-47238400	Flanking Active TSS	Fetal Thymus	thymus
27	chr11:47235800-47238600	Flanking Active TSS	NH-A	brain
28	chr11:47236000-47237400	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr11:47236000-47237400	Active TSS	HMEC	breast
30	chr11:47236000-47237600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:47236000-47237800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:47236000-47237800	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr11:47236000-47237800	Active TSS	Small Intestine	intestine
34	chr11:47236000-47238000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:47236000-47238000	Active TSS	Ovary	ovary
36	chr11:47236000-47238000	Active TSS	NHDF-Ad	bronchial
37	chr11:47236000-47238200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:47236000-47238200	Flanking Active TSS	Fetal Brain Male	brain
39	chr11:47236000-47238600	Active TSS	Aorta	Aorta
40	chr11:47236200-47237400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:47236200-47237800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:47236200-47237800	Bivalent/Poised TSS	HepG2	liver
43	chr11:47236200-47238000	Active TSS	Brain Germinal Matrix	brain
44	chr11:47236200-47238200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:47236600-47237400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:47236600-47237800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr11:47236600-47237800	Flanking Active TSS	Placenta	Placenta
48	chr11:47236600-47237800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
49	chr11:47236600-47237800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr11:47236600-47238000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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