Variant report

Variant	rs11992833
Chromosome Location	chr8:66734749-66734750
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	chr8:66728567..66731729-chr8:66732570..66735020,4	K562	blood:
2	chr8:66728806..66730730-chr8:66734212..66736095,3	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11993474	0.87[AMR][1000 genomes]
rs11994363	0.87[AMR][1000 genomes]
rs11994410	0.87[AMR][1000 genomes]
rs16932340	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57416148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57759707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57871763	0.87[AMR][1000 genomes]
rs58020170	0.87[AMR][1000 genomes]
rs58156571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59812763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73240781	0.86[EUR][1000 genomes]
rs73240793	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73242914	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73242917	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73242921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73242933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73242942	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73242949	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73242959	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73242967	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73242968	0.87[AMR][1000 genomes]
rs73242971	0.87[AMR][1000 genomes]
rs73242973	0.87[AMR][1000 genomes]
rs73242975	0.87[AMR][1000 genomes]
rs73242981	0.87[AMR][1000 genomes]
rs73242982	0.87[AMR][1000 genomes]
rs73242984	0.87[AMR][1000 genomes]
rs73244804	0.87[AMR][1000 genomes]
rs7463008	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66713400-66738200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:66716200-66738400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:66719400-66738600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:66719400-66750000	Weak transcription	Hela-S3	cervix
5	chr8:66720000-66736800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:66720400-66744800	Weak transcription	NHEK	skin
7	chr8:66721400-66738000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:66723800-66735200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:66723800-66738200	Weak transcription	Pancreas	Pancrea
10	chr8:66725200-66742000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:66725200-66747000	Weak transcription	NHDF-Ad	bronchial
12	chr8:66725400-66742000	Weak transcription	HMEC	breast
13	chr8:66725400-66751200	Weak transcription	Fetal Heart	heart
14	chr8:66727600-66737000	Weak transcription	Brain Angular Gyrus	brain
15	chr8:66727800-66736600	Weak transcription	HSMM	muscle
16	chr8:66729000-66735000	Strong transcription	Fetal Thymus	thymus
17	chr8:66729000-66744800	Weak transcription	Gastric	stomach
18	chr8:66729400-66738200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:66729400-66744800	Weak transcription	Spleen	Spleen
20	chr8:66729400-66749400	Weak transcription	Fetal Brain Male	brain
21	chr8:66730000-66741400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:66730000-66741600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:66730800-66737400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:66731000-66752600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:66731400-66736600	Strong transcription	Dnd41	blood
26	chr8:66731400-66741000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:66731600-66738000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:66731600-66738200	Weak transcription	Lung	lung
29	chr8:66731600-66740000	Weak transcription	A549	lung
30	chr8:66731600-66741400	Weak transcription	Fetal Stomach	stomach
31	chr8:66731600-66752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:66731800-66752600	Weak transcription	Adipose Nuclei	Adipose
33	chr8:66732200-66738000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:66732200-66738000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:66732200-66741400	Weak transcription	Fetal Intestine Large	intestine
36	chr8:66732400-66739200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:66732400-66745000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:66732400-66745000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:66732600-66735200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:66732600-66735400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:66732600-66736200	Weak transcription	Primary B cells from cord blood	blood
42	chr8:66732600-66738000	Weak transcription	Thymus	Thymus
43	chr8:66732600-66738800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:66732600-66739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:66732600-66751000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:66732600-66751000	Weak transcription	Fetal Lung	lung
47	chr8:66732800-66736800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:66732800-66738200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:66733000-66736200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:66733000-66738600	Weak transcription	Primary hematopoietic stem cells	blood

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