Variant report

Variant	rs647145
Chromosome Location	chr11:64594393-64594394
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64592789..64597400-chr11:64608018..64611956,5	K562	blood:
2	chr11:64594387..64597054-chr11:64604834..64606639,2	K562	blood:
3	chr11:64542874..64545775-chr11:64593362..64595913,2	K562	blood:
4	chr11:64592701..64598851-chr11:64599392..64606228,9	MCF-7	breast:
5	chr11:64592278..64595927-chr11:64601852..64604772,3	K562	blood:

Variant related genes	Relation type
ENSG00000168066	Chromatin interaction
ENSG00000171219	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11231886	0.82[CHD][hapmap]
rs12365548	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs12365873	0.80[ASN][1000 genomes]
rs12365878	0.82[JPT][hapmap]
rs12790925	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs12798965	0.82[JPT][hapmap]
rs2957160	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3825015	0.82[JPT][hapmap]
rs4930277	0.80[ASN][1000 genomes]
rs4930682	0.86[JPT][hapmap]
rs494252	0.84[GIH][hapmap]
rs544822	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs589984	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs653343	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs670358	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs684821	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7936466	0.80[ASN][1000 genomes]
rs916606	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
6	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
8	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
10	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS 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	1028 gene(s)	inside rSNPs	diseases
11	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64578200-64599000	Weak transcription	Spleen	Spleen
2	chr11:64578600-64602600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:64578800-64596800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:64578800-64601400	Weak transcription	Stomach Mucosa	stomach
5	chr11:64582600-64609600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:64582600-64611000	Weak transcription	Primary B cells from cord blood	blood
7	chr11:64585000-64594400	Weak transcription	Colonic Mucosa	Colon
8	chr11:64589600-64600800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:64590400-64602400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:64590600-64609400	Weak transcription	Fetal Lung	lung
11	chr11:64590800-64602600	Strong transcription	Placenta	Placenta
12	chr11:64590800-64604600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:64591000-64602600	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr11:64591000-64610600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:64591200-64602400	Strong transcription	Esophagus	oesophagus
16	chr11:64591200-64605400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:64591200-64609600	Strong transcription	Fetal Intestine Small	intestine
18	chr11:64591200-64611600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:64591400-64604400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr11:64591600-64602000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:64591600-64602600	Strong transcription	Gastric	stomach
22	chr11:64591600-64611200	Weak transcription	Small Intestine	intestine
23	chr11:64591800-64594600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:64592000-64594600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:64592000-64604200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:64592200-64595800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:64592600-64597400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:64592600-64604200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:64592800-64599800	Strong transcription	Fetal Intestine Large	intestine
30	chr11:64592800-64602400	Strong transcription	NHEK	skin
31	chr11:64592800-64602600	Strong transcription	Pancreas	Pancrea
32	chr11:64592800-64603000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:64592800-64608200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:64593000-64595200	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr11:64593000-64598000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr11:64593000-64598600	Weak transcription	Thymus	Thymus
37	chr11:64593000-64600800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:64593000-64603400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:64593000-64608400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:64593200-64598000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:64593400-64607400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr11:64593400-64608200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:64593400-64611000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:64593600-64594600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:64593600-64598000	Strong transcription	Lung	lung
46	chr11:64593600-64601200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:64593600-64601800	Strong transcription	Primary T cells from cord blood	blood
48	chr11:64593600-64603600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:64593800-64595000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:64593800-64595800	Strong transcription	HMEC	breast

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