Variant report

Variant	rs12676577
Chromosome Location	chr8:131094776-131094777
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131092705..131094983-chr8:131096553..131098588,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12675936	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12676014	0.82[EUR][1000 genomes]
rs12676536	0.85[ASN][1000 genomes]
rs12676977	0.85[ASN][1000 genomes]
rs12682258	0.81[ASN][1000 genomes]
rs13256967	0.85[ASN][1000 genomes]
rs16904201	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16904220	0.84[EUR][1000 genomes]
rs2114197	0.82[EUR][1000 genomes]
rs55815182	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57047177	0.92[ASN][1000 genomes]
rs7014715	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73405563	0.92[ASN][1000 genomes]
rs73425364	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7822764	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7836536	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs897050	0.85[ASN][1000 genomes]
rs9942745	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131062400-131106200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:131062600-131110600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131062800-131106400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr8:131066400-131098000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:131068800-131095400	Weak transcription	Fetal Kidney	kidney
6	chr8:131070400-131101600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:131070600-131095800	Weak transcription	Colonic Mucosa	Colon
8	chr8:131075000-131106800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:131075600-131105000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
11	chr8:131076800-131097400	Weak transcription	Fetal Heart	heart
12	chr8:131077600-131097600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr8:131079600-131097000	Strong transcription	Left Ventricle	heart
14	chr8:131080400-131107000	Strong transcription	Placenta	Placenta
15	chr8:131081000-131098000	Weak transcription	Fetal Brain Male	brain
16	chr8:131081200-131094800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:131081800-131095400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:131082400-131105400	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:131082800-131095400	Strong transcription	Osteobl	bone
20	chr8:131083400-131104800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:131083400-131104800	Strong transcription	Fetal Intestine Large	intestine
22	chr8:131083600-131105600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:131083800-131095600	Strong transcription	NHLF	lung
24	chr8:131084000-131107400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:131084200-131104800	Strong transcription	Fetal Stomach	stomach
26	chr8:131084400-131104600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:131084400-131105600	Weak transcription	Stomach Mucosa	stomach
28	chr8:131087400-131096800	Strong transcription	Lung	lung
29	chr8:131087600-131095600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:131087800-131098200	Weak transcription	Esophagus	oesophagus
31	chr8:131087800-131109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:131088200-131099000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:131088200-131101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:131088600-131096600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:131088600-131098000	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:131088800-131095200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:131089400-131107200	Strong transcription	NHEK	skin
38	chr8:131089600-131095600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:131089600-131096400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:131089600-131098200	Weak transcription	Aorta	Aorta
41	chr8:131089800-131099800	Weak transcription	Pancreas	Pancrea
42	chr8:131090200-131101000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:131091000-131095600	Weak transcription	Ovary	ovary
44	chr8:131091000-131095800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:131091000-131120000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:131091200-131095200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:131091200-131098200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr8:131091200-131102800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:131091600-131096000	Genic enhancers	HSMM	muscle
50	chr8:131091800-131106800	Strong transcription	A549	lung

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