Variant report

Variant	rs5792633
Chromosome Location	chr11:73500214-73500215
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73499930..73501877-chr11:73512932..73514861,2	K562	blood:
2	chr11:73470211..73473572-chr11:73496692..73501846,8	MCF-7	breast:
3	chr11:73470660..73473982-chr11:73497982..73500813,6	MCF-7	breast:
4	chr11:73497934..73501442-chr11:73586433..73589232,4	K562	blood:
5	chr11:73497415..73503223-chr11:73585602..73589591,8	K562	blood:
6	chr11:73497005..73500757-chr11:73586552..73589226,3	MCF-7	breast:
7	chr11:73460588..73463115-chr11:73499675..73501520,2	MCF-7	breast:
8	chr11:73499890..73502819-chr11:73563148..73564749,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175575	Chromatin interaction
ENSG00000181924	Chromatin interaction
ENSG00000256034	Chromatin interaction
ENSG00000175582	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11235911	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235918	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235928	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11235950	0.83[AMR][1000 genomes]
rs11534587	0.80[EUR][1000 genomes]
rs12225286	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12277859	0.83[ASN][1000 genomes]
rs1474417	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1670536	0.92[ASN][1000 genomes]
rs1792163	0.92[ASN][1000 genomes]
rs3758932	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3758933	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56307666	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57974546	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59187119	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60164255	0.80[AMR][1000 genomes]
rs60280069	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66465726	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7104794	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7125433	0.82[ASN][1000 genomes]
rs7130191	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71479547	0.82[ASN][1000 genomes]
rs72976851	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72976884	0.92[ASN][1000 genomes]
rs72989216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72989220	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72989224	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72989263	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7924705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927396	0.81[EUR][1000 genomes]
rs7931143	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7937366	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666165	0.82[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	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73498400-73500400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:73498800-73500400	Active TSS	Rectal Smooth Muscle	rectum
3	chr11:73499400-73507000	Weak transcription	Gastric	stomach
4	chr11:73499400-73507000	Weak transcription	Lung	lung
5	chr11:73499400-73507000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:73499400-73507200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:73499600-73500400	Enhancers	Fetal Brain Male	brain
8	chr11:73499600-73500400	Enhancers	Fetal Heart	heart
9	chr11:73499600-73500400	Weak transcription	Fetal Lung	lung
10	chr11:73499600-73500800	Flanking Active TSS	Dnd41	blood
11	chr11:73499600-73502800	Weak transcription	Stomach Mucosa	stomach
12	chr11:73499600-73529200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
15	chr11:73499800-73500400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:73499800-73500400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr11:73499800-73500400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:73499800-73500400	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr11:73499800-73500400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr11:73499800-73500400	Enhancers	Small Intestine	intestine
21	chr11:73499800-73500400	Flanking Active TSS	NHEK	skin
22	chr11:73499800-73500600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:73499800-73500600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr11:73499800-73500600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:73499800-73500600	Enhancers	Brain Substantia Nigra	brain
26	chr11:73499800-73500600	Enhancers	Colon Smooth Muscle	Colon
27	chr11:73499800-73500600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr11:73499800-73500600	Flanking Active TSS	Hela-S3	cervix
29	chr11:73499800-73501000	Enhancers	Fetal Intestine Large	intestine
30	chr11:73499800-73504800	Weak transcription	Fetal Stomach	stomach
31	chr11:73499800-73507000	Weak transcription	Esophagus	oesophagus
32	chr11:73499800-73507000	Weak transcription	Spleen	Spleen
33	chr11:73499800-73507200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:73499800-73507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:73499800-73507200	Weak transcription	Ovary	ovary
36	chr11:73499800-73529400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:73500000-73500400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:73500000-73500400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr11:73500000-73500400	Enhancers	Primary B cells from cord blood	blood
40	chr11:73500000-73500400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr11:73500000-73500400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:73500000-73500400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr11:73500000-73500400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr11:73500000-73500400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr11:73500000-73500400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:73500000-73500400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:73500000-73500400	Enhancers	Brain Angular Gyrus	brain
48	chr11:73500000-73500400	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr11:73500000-73500400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:73500000-73500400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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