Variant report

Variant	rs11227120
Chromosome Location	chr11:64864859-64864860
allele	G/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	chr11:64570549..64572322-chr11:64863262..64865763,3	MCF-7	breast:
2	chr11:64863685..64865502-chr11:64899385..64903204,3	K562	blood:
3	chr11:64862263..64865019-chr11:64949588..64952291,3	MCF-7	breast:
4	chr11:64793758..64795371-chr11:64862909..64865149,3	MCF-7	breast:
5	chr11:64793292..64796781-chr11:64862367..64865846,4	K562	blood:
6	chr11:64569782..64572996-chr11:64862581..64865602,3	K562	blood:
7	chr11:64793819..64796993-chr11:64862794..64865846,5	K562	blood:
8	chr11:64779913..64786139-chr11:64862018..64866625,10	K562	blood:
9	chr11:64764254..64767473-chr11:64863464..64866192,3	K562	blood:
10	chr11:64779401..64787584-chr11:64862745..64867550,9	MCF-7	breast:
11	chr11:64607780..64614825-chr11:64861884..64865172,9	MCF-7	breast:
12	chr11:64806669..64810557-chr11:64862016..64868359,8	K562	blood:
13	chr11:64864336..64865901-chr11:64948929..64951188,2	MCF-7	breast:
14	chr11:64806772..64810496-chr11:64862454..64866792,5	K562	blood:
15	chr11:64806644..64812839-chr11:64862132..64865938,9	MCF-7	breast:
16	chr11:64860579..64868255-chr11:64873377..64881831,25	K562	blood:
17	chr11:64862526..64865749-chr11:64882167..64886670,6	K562	blood:
18	chr11:64805658..64811611-chr11:64862545..64865451,9	MCF-7	breast:
19	chr11:64862784..64865189-chr11:65028595..65030936,2	K562	blood:
20	chr11:64646046..64648742-chr11:64862657..64865181,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000149823	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000168062	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000162298	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11227118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231929	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs1196048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2282498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36057475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782094	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3802936	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3825073	0.92[CHB][hapmap]
rs3862374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs477539	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs484182	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs489489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs496427	0.96[ASN][1000 genomes]
rs498636	0.83[ASN][1000 genomes]
rs502333	0.84[JPT][hapmap]
rs534236	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs548150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs564966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs653111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6591869	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7123226	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7130183	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7943007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947799	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9971546	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
5	nsv897712	chr11:64856695-64882789	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64863000-64865200	Enhancers	Fetal Heart	heart
2	chr11:64863600-64865200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:64864200-64865000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:64864200-64865200	Enhancers	Spleen	Spleen
5	chr11:64864200-64879400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:64864400-64865000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:64864400-64865000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:64864400-64865000	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr11:64864400-64865000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr11:64864400-64865000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:64864400-64865000	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr11:64864400-64865000	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr11:64864400-64865000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr11:64864400-64865000	Flanking Active TSS	Fetal Lung	lung
15	chr11:64864400-64865000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr11:64864400-64865000	Flanking Active TSS	Dnd41	blood
17	chr11:64864400-64865000	Flanking Active TSS	Hela-S3	cervix
18	chr11:64864400-64865000	Flanking Active TSS	K562	blood
19	chr11:64864400-64865200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:64864400-64874600	Weak transcription	Aorta	Aorta
21	chr11:64864400-64878000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:64864600-64865000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:64864600-64865000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:64864600-64865000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:64864600-64865000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:64864600-64865000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:64864600-64865000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:64864600-64865000	Enhancers	Colon Smooth Muscle	Colon
29	chr11:64864600-64865000	Enhancers	Esophagus	oesophagus
30	chr11:64864600-64865000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr11:64864600-64865000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr11:64864600-64865000	Transcr. at gene 5' and 3'	HepG2	liver
33	chr11:64864600-64865200	Enhancers	Primary B cells from cord blood	blood
34	chr11:64864600-64865400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:64864600-64865400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:64864600-64865800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:64864600-64866000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
38	chr11:64864600-64866400	Weak transcription	Lung	lung
39	chr11:64864600-64869000	Weak transcription	Left Ventricle	heart
40	chr11:64864600-64873000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:64864600-64874600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:64864600-64876400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr11:64864800-64865000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:64864800-64865000	Enhancers	Primary hematopoietic stem cells	blood
45	chr11:64864800-64865000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr11:64864800-64865000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
47	chr11:64864800-64865000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:64864800-64865000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:64864800-64865000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:64864800-64865000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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