Variant report

Variant	rs12792893
Chromosome Location	chr11:76602372-76602373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76601587..76604030-chr11:76605772..76607443,2	K562	blood:
2	chr11:76589044..76590686-chr11:76602366..76604601,2	MCF-7	breast:
3	chr11:76572318..76575156-chr11:76600227..76602502,2	K562	blood:
4	chr11:76570605..76573818-chr11:76600587..76602502,3	K562	blood:
5	chr11:76601177..76603087-chr11:76605754..76607272,2	K562	blood:

Variant related genes	Relation type
ENSG00000078124	Chromatin interaction
ENSG00000212030	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10899309	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11236978	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11236995	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11236998	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11237001	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11237005	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11237012	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12790535	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12792209	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12793219	0.95[EUR][1000 genomes]
rs12795242	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12797385	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12806029	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34683571	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7944465	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[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	nsv518920	chr11:76573016-76637651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76581200-76613400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:76594800-76602600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:76595400-76602800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:76596800-76603000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:76596800-76614600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:76597000-76603000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:76597000-76605200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:76597000-76631000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:76597400-76602400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:76597400-76603400	Weak transcription	Adipose Nuclei	Adipose
11	chr11:76597400-76611200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:76597600-76613600	Weak transcription	NHEK	skin
13	chr11:76597800-76614200	Weak transcription	HMEC	breast
14	chr11:76598200-76603200	Enhancers	Brain Substantia Nigra	brain
15	chr11:76599400-76604400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:76599800-76603000	Enhancers	NHDF-Ad	bronchial
17	chr11:76600000-76602600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:76600200-76602400	Weak transcription	A549	lung
19	chr11:76600200-76602600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:76600200-76613600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:76600400-76602400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr11:76600600-76605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:76600800-76602400	Weak transcription	Brain Germinal Matrix	brain
24	chr11:76600800-76602400	Weak transcription	HUVEC	blood vessel
25	chr11:76600800-76602400	Weak transcription	K562	blood
26	chr11:76600800-76616800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:76600800-76617200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:76601200-76602400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:76601200-76602600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:76601200-76609000	Weak transcription	Fetal Intestine Small	intestine
31	chr11:76601400-76602600	Enhancers	Brain Hippocampus Middle	brain
32	chr11:76601400-76617000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr11:76601600-76602400	Weak transcription	Brain Anterior Caudate	brain
34	chr11:76602200-76603000	Enhancers	Brain Angular Gyrus	brain
35	chr11:76602200-76604400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:76602200-76606600	Enhancers	Brain Cingulate Gyrus	brain

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