Variant report

Variant	rs73474781
Chromosome Location	chr11:64680637-64680638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64680354-64682344	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:64680589-64680969	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64645458..64648042-chr11:64679788..64682013,2	MCF-7	breast:
2	chr11:64659914..64665589-chr11:64679566..64685622,11	K562	blood:
3	chr11:64680208..64683169-chr11:64690299..64692795,2	MCF-7	breast:
4	chr11:64658278..64660280-chr11:64679141..64680853,3	MCF-7	breast:

Variant related genes	Relation type
PPP2R5B	TF binding region
ENSG00000267804	Chromatin interaction
ENSG00000207648	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000229719	Chromatin interaction
ENSG00000068971	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10897531	1.00[EUR][1000 genomes]
rs11231888	1.00[EUR][1000 genomes]
rs11231892	1.00[EUR][1000 genomes]
rs11824823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825104	1.00[EUR][1000 genomes]
rs11826724	1.00[EUR][1000 genomes]
rs17146681	1.00[EUR][1000 genomes]
rs35197993	1.00[EUR][1000 genomes]
rs57292990	1.00[EUR][1000 genomes]
rs57895567	1.00[EUR][1000 genomes]
rs57983247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58009266	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58306239	1.00[EUR][1000 genomes]
rs60169759	1.00[EUR][1000 genomes]
rs60568743	1.00[EUR][1000 genomes]
rs61136517	1.00[EUR][1000 genomes]
rs61746813	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73474770	1.00[EUR][1000 genomes]
rs73474771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73477004	1.00[EUR][1000 genomes]
rs73477025	1.00[EUR][1000 genomes]
rs73477027	1.00[EUR][1000 genomes]
rs73477209	1.00[EUR][1000 genomes]
rs73477214	1.00[EUR][1000 genomes]
rs73477223	1.00[EUR][1000 genomes]
rs73477224	1.00[EUR][1000 genomes]
rs73477233	1.00[EUR][1000 genomes]
rs73479135	1.00[EUR][1000 genomes]
rs73481122	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494264	1.00[EUR][1000 genomes]
rs73494273	1.00[EUR][1000 genomes]
rs73495050	1.00[EUR][1000 genomes]
rs73495054	1.00[EUR][1000 genomes]
rs73495060	1.00[EUR][1000 genomes]
rs73496391	1.00[EUR][1000 genomes]
rs769438	1.00[EUR][1000 genomes]
rs769439	1.00[EUR][1000 genomes]

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	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
4	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
5	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
6	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
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription 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
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription 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	1028 gene(s)	inside rSNPs	diseases
9	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
10	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases
11	nsv555209	chr11:64661532-64684288	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64656000-64683200	Weak transcription	HSMM	muscle
2	chr11:64656000-64683400	Weak transcription	Right Atrium	heart
3	chr11:64656600-64683400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:64657000-64682600	Weak transcription	Fetal Heart	heart
5	chr11:64657000-64683600	Weak transcription	Fetal Kidney	kidney
6	chr11:64658600-64683400	Weak transcription	Fetal Brain Male	brain
7	chr11:64661400-64682200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:64662000-64682200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:64662000-64682200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:64662000-64682200	Strong transcription	Brain Hippocampus Middle	brain
11	chr11:64662200-64682000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:64662200-64682000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:64662200-64682200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:64662200-64682200	Strong transcription	Adipose Nuclei	Adipose
15	chr11:64662200-64682200	Strong transcription	Thymus	Thymus
16	chr11:64662200-64682400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:64662200-64682400	Strong transcription	Fetal Thymus	thymus
18	chr11:64662400-64681800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:64662400-64682000	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:64662400-64682400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:64662400-64682800	Strong transcription	Fetal Stomach	stomach
22	chr11:64662600-64682000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr11:64662600-64682000	Strong transcription	Right Ventricle	heart
24	chr11:64662600-64682200	Strong transcription	Liver	Liver
25	chr11:64662600-64682200	Strong transcription	Placenta	Placenta
26	chr11:64662600-64682600	Strong transcription	Fetal Intestine Small	intestine
27	chr11:64663000-64682200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr11:64663200-64681800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:64663200-64682000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr11:64663800-64682200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr11:64664600-64681600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:64665400-64682200	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr11:64668200-64682200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:64668200-64682600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:64668400-64681200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:64668400-64682200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:64668400-64683200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:64668600-64681800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr11:64668600-64682600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:64668800-64682200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:64669000-64682200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:64669200-64682200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:64669800-64682800	Weak transcription	K562	blood
44	chr11:64672400-64681600	Strong transcription	Esophagus	oesophagus
45	chr11:64672400-64681600	Strong transcription	Left Ventricle	heart
46	chr11:64672400-64682000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:64672400-64682000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr11:64672400-64682000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:64672400-64682000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:64672400-64682000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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