Variant report

Variant	rs73493917
Chromosome Location	chr11:75628246-75628247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75623454..75626319-chr11:75626838..75629798,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255081	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12274372	0.85[AMR][1000 genomes]
rs12288807	0.85[AMR][1000 genomes]
rs55758113	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55916175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55984423	0.85[AMR][1000 genomes]
rs56174731	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56709863	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58442571	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58700432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59187373	0.85[AMR][1000 genomes]
rs59330958	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59337469	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59484939	0.85[AMR][1000 genomes]
rs59790182	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60012502	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60178265	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60331805	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60369507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60594722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61338611	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119278	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119400	0.83[AFR][1000 genomes]
rs73491754	0.85[AMR][1000 genomes]
rs73491770	0.85[AMR][1000 genomes]
rs73491773	0.83[AFR][1000 genomes]
rs73491786	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73491787	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491790	1.00[AMR][1000 genomes]
rs73491799	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491800	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491802	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504503	0.85[AMR][1000 genomes]
rs73504505	0.85[AMR][1000 genomes]
rs73504506	0.85[AMR][1000 genomes]
rs73504507	0.85[AMR][1000 genomes]
rs73504509	0.85[AMR][1000 genomes]
rs73504523	0.85[AMR][1000 genomes]
rs7933675	0.90[AFR][1000 genomes]
rs7939821	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7945859	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv515973	chr11:75569267-75832315	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75562600-75630400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:75585000-75628400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:75586600-75676000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:75587600-75631600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:75589600-75635800	Weak transcription	NHEK	skin
6	chr11:75603600-75657000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:75604600-75657600	Weak transcription	Fetal Thymus	thymus
8	chr11:75606400-75652400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:75611200-75635800	Weak transcription	HSMM	muscle
10	chr11:75611600-75636000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:75613200-75629400	Weak transcription	Fetal Stomach	stomach
12	chr11:75614800-75635000	Weak transcription	Brain Anterior Caudate	brain
13	chr11:75614800-75635800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:75614800-75636000	Weak transcription	Psoas Muscle	Psoas
15	chr11:75615400-75635800	Weak transcription	Brain Substantia Nigra	brain
16	chr11:75615400-75635800	Weak transcription	Hela-S3	cervix
17	chr11:75615600-75629600	Weak transcription	Small Intestine	intestine
18	chr11:75615600-75630000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:75615600-75635800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:75618800-75635400	Weak transcription	Left Ventricle	heart
21	chr11:75619400-75630000	Weak transcription	HSMMtube	muscle
22	chr11:75620000-75635800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:75620400-75632400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:75620600-75636000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:75621600-75636000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:75622200-75628400	Strong transcription	Primary B cells from cord blood	blood
27	chr11:75622200-75629200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr11:75622600-75639000	Weak transcription	Lung	lung
29	chr11:75622800-75657600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:75623400-75630200	Weak transcription	NHDF-Ad	bronchial
31	chr11:75623600-75630400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:75623800-75629800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:75623800-75635800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:75624000-75629800	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:75624000-75630200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:75624200-75632200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:75624600-75630400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:75624800-75630000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:75625000-75628400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr11:75625000-75629400	Weak transcription	Adipose Nuclei	Adipose
41	chr11:75625000-75629800	Weak transcription	Fetal Lung	lung
42	chr11:75625000-75630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:75625000-75636000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:75625000-75682400	Weak transcription	Primary T cells from cord blood	blood
45	chr11:75625200-75629400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:75625200-75631600	Weak transcription	HUVEC	blood vessel
47	chr11:75625200-75636200	Weak transcription	Liver	Liver
48	chr11:75625200-75642200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:75625200-75644400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr11:75625200-75656800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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