Variant report

Variant	rs7942472
Chromosome Location	chr11:64673705-64673706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64662200..64663793-chr11:64672087..64675705,3	MCF-7	breast:
2	chr11:64666648..64668980-chr11:64673080..64675787,2	MCF-7	breast:
3	chr11:64673289..64676041-chr11:64772574..64774237,2	MCF-7	breast:
4	chr11:64661385..64663055-chr11:64673353..64675725,2	MCF-7	breast:
5	chr11:64672959..64673724-chr17:34890833..34891831,2	Hela-S3	cervix:
6	chr11:64668405..64670672-chr11:64671488..64674458,2	MCF-7	breast:
7	chr11:64644625..64647687-chr11:64672136..64675094,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184886	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000141140	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10488702	1.00[CEU][hapmap]
rs11827610	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12286941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146407	1.00[CEU][hapmap]
rs17146506	1.00[CEU][hapmap]
rs17146508	1.00[CEU][hapmap]
rs17146511	1.00[CEU][hapmap]
rs17146515	1.00[CEU][hapmap]
rs17146519	1.00[CEU][hapmap]
rs17146528	1.00[CEU][hapmap]
rs17146539	1.00[CEU][hapmap]
rs17146541	1.00[CEU][hapmap]
rs17146543	1.00[CEU][hapmap]
rs17146544	1.00[CEU][hapmap]
rs17146569	1.00[CEU][hapmap]
rs17146575	1.00[CEU][hapmap]
rs35079323	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35115827	0.97[EUR][1000 genomes]
rs3867127	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs3888184	1.00[CEU][hapmap]
rs4320955	1.00[CEU][hapmap]
rs57365630	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57393537	0.83[EUR][1000 genomes]
rs59677833	0.94[EUR][1000 genomes]
rs60711419	0.97[EUR][1000 genomes]
rs60798873	0.83[EUR][1000 genomes]
rs61024397	0.83[EUR][1000 genomes]
rs61741079	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61742063	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs628595	1.00[CEU][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs643949	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs647489	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs664997	0.87[AMR][1000 genomes]
rs7102350	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7103328	1.00[CEU][hapmap]
rs7113751	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7123368	1.00[CEU][hapmap]
rs7482817	1.00[CEU][hapmap]
rs885999	0.83[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	chr11:64656000-64674200	Weak transcription	NH-A	brain
2	chr11:64656000-64677800	Weak transcription	HUVEC	blood vessel
3	chr11:64656000-64683200	Weak transcription	HSMM	muscle
4	chr11:64656000-64683400	Weak transcription	Right Atrium	heart
5	chr11:64656600-64683400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:64656800-64674200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:64657000-64682600	Weak transcription	Fetal Heart	heart
8	chr11:64657000-64683600	Weak transcription	Fetal Kidney	kidney
9	chr11:64658600-64683400	Weak transcription	Fetal Brain Male	brain
10	chr11:64661400-64682200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:64661800-64677200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:64662000-64682200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:64662000-64682200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:64662000-64682200	Strong transcription	Brain Hippocampus Middle	brain
15	chr11:64662200-64682000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:64662200-64682000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr11:64662200-64682200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:64662200-64682200	Strong transcription	Adipose Nuclei	Adipose
19	chr11:64662200-64682200	Strong transcription	Thymus	Thymus
20	chr11:64662200-64682400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:64662200-64682400	Strong transcription	Fetal Thymus	thymus
22	chr11:64662400-64681800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:64662400-64682000	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:64662400-64682400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:64662400-64682800	Strong transcription	Fetal Stomach	stomach
26	chr11:64662600-64678400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:64662600-64682000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr11:64662600-64682000	Strong transcription	Right Ventricle	heart
29	chr11:64662600-64682200	Strong transcription	Liver	Liver
30	chr11:64662600-64682200	Strong transcription	Placenta	Placenta
31	chr11:64662600-64682600	Strong transcription	Fetal Intestine Small	intestine
32	chr11:64663000-64682200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr11:64663200-64681800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:64663200-64682000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr11:64663800-64682200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr11:64664600-64681600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:64665400-64682200	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr11:64666000-64677800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:64668200-64682200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:64668200-64682600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:64668400-64676600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:64668400-64681200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:64668400-64682200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:64668400-64683200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:64668600-64681800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr11:64668600-64682600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:64668800-64678400	Weak transcription	NHDF-Ad	bronchial
48	chr11:64668800-64682200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:64669000-64682200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:64669200-64682200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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