Variant report

Variant	rs4647707
Chromosome Location	chr11:47236568-47236569
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 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	chr11:47236058..47237053-chr5:43556605..43557161,2	Hela-S3	cervix:
4	chr11:47236414..47239398-chr11:47265054..47267561,5	K562	blood:
5	chr11:47196838..47200214-chr11:47234555..47238435,7	MCF-7	breast:
6	chr11:47235800..47238158-chr11:47268993..47270943,3	MCF-7	breast:
7	chr11:47235321..47238553-chr11:47290387..47292949,4	K562	blood:
8	chr11:47226100..47227743-chr11:47235838..47237503,2	MCF-7	breast:
9	chr11:47205217..47215436-chr11:47233934..47241095,26	MCF-7	breast:
10	chr11:47234552..47236757-chr11:47290593..47292750,2	MCF-7	breast:
11	chr11:47236332..47238351-chr11:47265199..47266819,2	MCF-7	breast:
12	chr11:47234882..47238296-chr11:47268822..47272499,5	MCF-7	breast:
13	chr11:47236484..47238469-chr11:47432322..47435260,2	MCF-7	breast:
14	chr11:47235151..47238129-chr11:47286989..47291992,5	MCF-7	breast:
15	chr11:47197774..47202059-chr11:47234538..47239113,7	MCF-7	breast:
16	chr11:47235395..47237642-chr11:47289103..47291887,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000149182	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000243802	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000266540	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs60785687	0.83[AMR][1000 genomes]
rs6485729	0.96[YRI][hapmap]
rs6485743	0.96[YRI][hapmap];0.90[AMR][1000 genomes]
rs7106654	0.92[YRI][hapmap];0.90[AMR][1000 genomes]
rs7128520	0.93[YRI][hapmap]
rs7930424	0.93[YRI][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	chr11:47235200-47236600	Active TSS	Fetal Brain Female	brain
2	chr11:47235400-47236800	Active TSS	Brain Angular Gyrus	brain
3	chr11:47235400-47236800	Active TSS	Colonic Mucosa	Colon
4	chr11:47235400-47237600	Active TSS	Rectal Smooth Muscle	rectum
5	chr11:47235600-47236600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:47235600-47236600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:47235600-47236600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr11:47235600-47236600	Active TSS	Primary T cells from cord blood	blood
9	chr11:47235600-47236600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:47235600-47236600	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr11:47235600-47236600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:47235600-47236600	Active TSS	Adipose Nuclei	Adipose
13	chr11:47235600-47236600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:47235600-47236800	Active TSS	Brain Anterior Caudate	brain
15	chr11:47235600-47236800	Active TSS	Brain Cingulate Gyrus	brain
16	chr11:47235600-47236800	Active TSS	Brain Hippocampus Middle	brain
17	chr11:47235600-47236800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr11:47235600-47236800	Active TSS	Brain Substantia Nigra	brain
19	chr11:47235600-47236800	Active TSS	Right Ventricle	heart
20	chr11:47235600-47237000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr11:47235600-47237000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:47235600-47237000	Active TSS	Fetal Kidney	kidney
23	chr11:47235600-47237000	Active TSS	NHEK	skin
24	chr11:47235600-47237400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr11:47235600-47237400	Active TSS	Thymus	Thymus
26	chr11:47235600-47237600	Active TSS	H1 Cell Line	embryonic stem cell
27	chr11:47235600-47237600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:47235600-47237800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:47235600-47238000	Active TSS	Colon Smooth Muscle	Colon
30	chr11:47235600-47238000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:47235600-47238000	Active TSS	A549	lung
32	chr11:47235600-47238200	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr11:47235600-47238200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr11:47235600-47238200	Active TSS	GM12878-XiMat	blood
35	chr11:47235600-47238400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr11:47235600-47238400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr11:47235600-47238400	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr11:47235800-47236600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:47235800-47236600	Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr11:47235800-47236600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:47235800-47236600	Active TSS	Liver	Liver
42	chr11:47235800-47236600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr11:47235800-47236600	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr11:47235800-47236800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:47235800-47236800	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr11:47235800-47236800	Active TSS	Duodenum Mucosa	Duodenum
47	chr11:47235800-47236800	Active TSS	Fetal Stomach	stomach
48	chr11:47235800-47236800	Active TSS	HSMM	muscle
49	chr11:47235800-47236800	Active TSS	NHLF	lung
50	chr11:47235800-47237000	Active TSS	iPS-20b Cell Line	embryonic stem cell

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