Variant report

Variant	rs630454
Chromosome Location	chr11:86205102-86205103
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86201721..86204217-chr11:86205019..86207965,2	K562	blood:
2	chr11:86199685..86201695-chr11:86203198..86206552,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs2446225	0.87[ASN][1000 genomes]
rs2446230	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2511083	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944588	0.82[ASN][1000 genomes]
rs579719	0.82[ASN][1000 genomes]
rs582282	0.83[ASN][1000 genomes]
rs583594	0.87[ASN][1000 genomes]
rs584953	0.87[ASN][1000 genomes]
rs587362	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs590750	0.82[ASN][1000 genomes]
rs610790	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs611730	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs614995	0.88[ASN][1000 genomes]
rs616794	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs620054	0.81[ASN][1000 genomes]
rs632873	0.81[ASN][1000 genomes]
rs633708	0.84[ASN][1000 genomes]
rs638492	0.89[ASN][1000 genomes]
rs641541	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs643414	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs653715	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs658324	0.83[ASN][1000 genomes]
rs660372	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs661163	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs661328	0.81[ASN][1000 genomes]
rs663208	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs664613	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs669325	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs676106	0.82[ASN][1000 genomes]
rs677301	0.84[ASN][1000 genomes]
rs677643	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs679977	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs681333	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs683899	0.81[EUR][1000 genomes];0.86[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:86172200-86208200	Weak transcription	Pancreas	Pancrea
3	chr11:86172400-86208400	Weak transcription	Brain Angular Gyrus	brain
4	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:86181800-86208800	Weak transcription	Gastric	stomach
6	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:86188000-86210400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:86189400-86206400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:86192200-86208400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:86193400-86208600	Weak transcription	Brain Anterior Caudate	brain
13	chr11:86195200-86208400	Weak transcription	Right Ventricle	heart
14	chr11:86195200-86222200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:86195800-86206400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:86196000-86208800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:86196200-86208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:86196200-86213600	Weak transcription	Brain Germinal Matrix	brain
19	chr11:86196400-86208400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:86196600-86208200	Weak transcription	Osteobl	bone
21	chr11:86196800-86208000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:86197000-86208000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:86197600-86208800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:86198000-86211000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:86198200-86208200	Weak transcription	Fetal Stomach	stomach
26	chr11:86198200-86210600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:86198400-86206600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:86198600-86208400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:86198600-86222800	Weak transcription	Esophagus	oesophagus
30	chr11:86198800-86205400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:86199000-86208400	Weak transcription	A549	lung
32	chr11:86199800-86208200	Weak transcription	Lung	lung
33	chr11:86200000-86206600	Weak transcription	Adipose Nuclei	Adipose
34	chr11:86201000-86206400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:86201200-86208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:86201400-86210000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:86202000-86206400	Weak transcription	NH-A	brain
38	chr11:86202400-86208400	Weak transcription	Fetal Brain Female	brain
39	chr11:86202400-86208400	Weak transcription	HUVEC	blood vessel
40	chr11:86202400-86210000	Weak transcription	Fetal Intestine Large	intestine
41	chr11:86202600-86208400	Weak transcription	Spleen	Spleen
42	chr11:86202600-86208400	Weak transcription	NHDF-Ad	bronchial
43	chr11:86202800-86226400	Weak transcription	Fetal Lung	lung
44	chr11:86203200-86208600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:86203600-86206400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:86203800-86206400	Weak transcription	Ovary	ovary
47	chr11:86204000-86206600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr11:86204000-86209400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:86204000-86222200	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:86204200-86205400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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