Variant report

Variant	rs11020080
Chromosome Location	chr11:92578985-92578986
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	chr11:92578278..92580510-chr11:92603821..92605505,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10765565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10765566	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10765567	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10765568	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10830952	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11020072	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11020079	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020082	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12789219	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12789841	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34321934	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34508481	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3847540	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847541	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847544	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101614	0.87[EUR][1000 genomes]
rs7118363	0.87[EUR][1000 genomes]
rs7939598	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043861	chr11:92357570-92689868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1044571	chr11:92495213-92742314	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92562800-92579000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:92569000-92579000	Strong transcription	Fetal Lung	lung
3	chr11:92571200-92579000	Weak transcription	Fetal Thymus	thymus
4	chr11:92572400-92582000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:92572600-92580800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:92572800-92584400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:92573600-92586400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:92574400-92579200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:92574400-92586000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:92574800-92580000	Enhancers	NHEK	skin
11	chr11:92574800-92580200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:92575000-92581400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr11:92575200-92579800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:92575200-92580000	Enhancers	HMEC	breast
15	chr11:92575400-92579600	Weak transcription	NH-A	brain
16	chr11:92576200-92580000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:92576400-92579800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:92576400-92579800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:92577200-92579000	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr11:92577200-92579800	Enhancers	Colonic Mucosa	Colon
21	chr11:92577200-92580600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr11:92577800-92589600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:92577800-92592000	Weak transcription	Aorta	Aorta
24	chr11:92578000-92579400	Enhancers	Fetal Muscle Leg	muscle
25	chr11:92578000-92580800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:92578000-92586200	Weak transcription	Lung	lung
27	chr11:92578000-92590200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:92578200-92579200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:92578200-92579200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:92578200-92579400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:92578200-92580400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:92578200-92587400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:92578200-92592000	Weak transcription	Brain Anterior Caudate	brain
34	chr11:92578200-92598600	Weak transcription	Fetal Brain Male	brain
35	chr11:92578400-92579200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:92578400-92579600	Enhancers	Fetal Intestine Large	intestine
37	chr11:92578600-92579400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr11:92578600-92579400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr11:92578600-92579800	Enhancers	Fetal Stomach	stomach
40	chr11:92578600-92579800	Enhancers	NHLF	lung
41	chr11:92578600-92582600	Weak transcription	Brain Angular Gyrus	brain
42	chr11:92578600-92586200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:92578600-92592200	Weak transcription	Fetal Brain Female	brain
44	chr11:92578800-92581000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:92578800-92584800	Weak transcription	Fetal Kidney	kidney
46	chr11:92578800-92586200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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