Variant report

Variant	rs633708
Chromosome Location	chr11:86224658-86224659
allele	G/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86224603..86226586-chr11:86265087..86268010,2	K562	blood:
2	chr11:86219227..86220882-chr11:86224339..86227015,2	K562	blood:
3	chr11:86209598..86213474-chr11:86222640..86227259,4	K562	blood:
4	chr11:86211974..86214956-chr11:86224089..86226372,2	K562	blood:
5	chr11:86224152..86227397-chr11:86232854..86235365,3	MCF-7	breast:
6	chr11:86221104..86225436-chr11:86225475..86228538,5	K562	blood:
7	chr11:86186448..86190207-chr11:86221573..86225734,3	K562	blood:
8	chr11:86222347..86226033-chr11:86510228..86514094,4	MCF-7	breast:
9	chr11:86198284..86201333-chr11:86223317..86226180,3	MCF-7	breast:
10	chr11:86221142..86225436-chr11:86225475..86228641,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10751139	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11234691	0.85[ASN][1000 genomes]
rs2446230	0.95[ASN][1000 genomes]
rs4944588	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs579719	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs582282	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs587362	0.88[ASN][1000 genomes]
rs590750	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610790	0.89[ASN][1000 genomes]
rs611730	0.88[ASN][1000 genomes]
rs616794	0.86[ASN][1000 genomes]
rs620054	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs630454	0.84[ASN][1000 genomes]
rs638492	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs641541	0.95[ASN][1000 genomes]
rs643414	0.89[ASN][1000 genomes]
rs651758	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs653715	0.89[ASN][1000 genomes]
rs658324	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs660372	0.95[ASN][1000 genomes]
rs661163	0.83[ASN][1000 genomes]
rs663208	0.87[ASN][1000 genomes]
rs664613	0.88[ASN][1000 genomes]
rs669325	0.88[ASN][1000 genomes]
rs676106	0.80[ASN][1000 genomes]
rs677301	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs677643	0.88[ASN][1000 genomes]
rs679977	0.84[ASN][1000 genomes]
rs681333	0.88[ASN][1000 genomes]
rs683899	0.84[ASN][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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:86202800-86226400	Weak transcription	Fetal Lung	lung
3	chr11:86209200-86226600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:86211600-86229800	Weak transcription	Brain Anterior Caudate	brain
5	chr11:86215000-86229800	Weak transcription	Lung	lung
6	chr11:86215200-86226400	Weak transcription	Spleen	Spleen
7	chr11:86215400-86225000	Weak transcription	Psoas Muscle	Psoas
8	chr11:86215800-86230000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:86217600-86226600	Weak transcription	Aorta	Aorta
10	chr11:86218000-86228000	Weak transcription	Fetal Brain Female	brain
11	chr11:86218200-86227800	Weak transcription	Fetal Brain Male	brain
12	chr11:86218600-86225200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr11:86218600-86226400	Weak transcription	Fetal Stomach	stomach
14	chr11:86218600-86227800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:86218600-86229600	Weak transcription	Brain Germinal Matrix	brain
16	chr11:86220000-86230600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:86220200-86225600	Enhancers	Stomach Mucosa	stomach
18	chr11:86220400-86226600	Weak transcription	Left Ventricle	heart
19	chr11:86222200-86224800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr11:86222200-86226600	Weak transcription	Adipose Nuclei	Adipose
21	chr11:86222400-86227000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr11:86222600-86226400	Weak transcription	NHLF	lung
23	chr11:86222600-86226600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:86222600-86226600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:86222800-86225400	Weak transcription	HUVEC	blood vessel
26	chr11:86222800-86226200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:86222800-86226200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:86222800-86226400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:86222800-86226600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:86222800-86226600	Weak transcription	Fetal Intestine Large	intestine
31	chr11:86222800-86227000	Weak transcription	Ovary	ovary
32	chr11:86222800-86227200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:86223000-86226000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:86223000-86226200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:86223000-86226200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr11:86223000-86226400	Weak transcription	Right Atrium	heart
37	chr11:86223000-86226400	Weak transcription	Right Ventricle	heart
38	chr11:86223000-86226400	Weak transcription	Hela-S3	cervix
39	chr11:86223000-86226600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:86223000-86229800	Weak transcription	Gastric	stomach
41	chr11:86223000-86238200	Weak transcription	Pancreas	Pancrea
42	chr11:86223200-86224800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:86223200-86225400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:86223200-86225800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:86223200-86226400	Weak transcription	HSMMtube	muscle
46	chr11:86223200-86226400	Weak transcription	NH-A	brain
47	chr11:86223200-86226400	Weak transcription	Osteobl	bone
48	chr11:86223200-86226600	Weak transcription	Esophagus	oesophagus
49	chr11:86223200-86226600	Weak transcription	K562	blood
50	chr11:86223200-86230600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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