Variant report

Variant	rs11775309
Chromosome Location	chr8:131431961-131431962
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	chr8:131431888..131433233-chr8:131539926..131540601,3	MCF-7	breast:
2	chr8:131423687..131425231-chr8:131431826..131434765,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11774346	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11774901	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11775172	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11776262	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11776732	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11776768	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11777909	0.93[AMR][1000 genomes]
rs11778072	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11778368	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11778504	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11778593	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11778712	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11778881	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11781211	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11783764	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11784477	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11784842	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11784988	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11785125	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11785172	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11785286	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11785806	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56162445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56350423	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57315235	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6981708	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6981861	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6982030	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6992270	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722388	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722392	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722393	0.93[AMR][1000 genomes]
rs72722394	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722396	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722397	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722399	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724412	0.87[AMR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724421	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724437	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724446	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724447	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724449	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724451	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724452	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724453	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724454	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724455	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724460	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72724461	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72724473	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72724487	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72724490	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72724502	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726203	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72726205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726220	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72726226	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726227	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726229	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726231	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726232	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72726234	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726236	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726240	0.87[AMR][1000 genomes]
rs72726241	0.93[AMR][1000 genomes]
rs72726244	0.93[AMR][1000 genomes]
rs7826256	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7836273	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs929990	1.00[AFR][1000 genomes];0.93[AMR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
2	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
3	chr8:131421000-131433400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:131424600-131433800	Weak transcription	HepG2	liver
5	chr8:131427200-131433200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:131427600-131432400	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:131427600-131432600	Enhancers	Fetal Muscle Leg	muscle
8	chr8:131427800-131433400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:131428200-131435200	Enhancers	Left Ventricle	heart
10	chr8:131428600-131432400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:131429000-131446800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:131429000-131454800	Weak transcription	Aorta	Aorta
13	chr8:131429200-131432400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:131429200-131434400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:131429200-131444800	Weak transcription	HSMMtube	muscle
16	chr8:131429400-131434000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:131429400-131436600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:131429400-131440200	Weak transcription	Pancreas	Pancrea
19	chr8:131429400-131442600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:131429400-131447200	Weak transcription	Gastric	stomach
21	chr8:131429400-131449400	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:131429600-131432200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:131429600-131433800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:131429600-131438200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:131429600-131453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:131430200-131432000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr8:131430400-131433800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:131430400-131434200	Weak transcription	HSMM	muscle
29	chr8:131430400-131434400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:131430800-131432800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:131431000-131432200	Enhancers	Lung	lung
32	chr8:131431000-131432200	Enhancers	NHDF-Ad	bronchial
33	chr8:131431000-131432400	Bivalent Enhancer	Fetal Lung	lung
34	chr8:131431000-131432600	Enhancers	Fetal Heart	heart
35	chr8:131431000-131432600	Enhancers	Right Ventricle	heart
36	chr8:131431000-131432800	Enhancers	NH-A	brain
37	chr8:131431000-131435200	Enhancers	Right Atrium	heart
38	chr8:131431200-131432000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:131431200-131432000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:131431200-131432000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:131431200-131432000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr8:131431200-131432000	Enhancers	Esophagus	oesophagus
43	chr8:131431200-131432000	Enhancers	Psoas Muscle	Psoas
44	chr8:131431200-131432200	Enhancers	Ovary	ovary
45	chr8:131431200-131432200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr8:131431200-131432400	Enhancers	Adipose Nuclei	Adipose
47	chr8:131431200-131432400	Enhancers	GM12878-XiMat	blood
48	chr8:131431200-131432400	Enhancers	Osteobl	bone
49	chr8:131431200-131432600	Enhancers	Primary B cells from peripheral blood	blood
50	chr8:131431200-131432600	Enhancers	HMEC	breast

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