Variant report

Variant	rs12678309
Chromosome Location	chr8:118888157-118888158
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118885737..118888335-chr8:119123241..119125842,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11776292	0.84[CEU][hapmap];0.91[CHB][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11781153	0.82[CHB][hapmap]
rs11781245	0.83[CHB][hapmap]
rs11785986	0.89[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11986974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682480	0.90[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17430610	0.83[CHB][hapmap]
rs17450723	0.90[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17450758	0.89[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17450835	0.83[CHB][hapmap]
rs17453043	0.83[CHB][hapmap]
rs17475190	0.83[CHB][hapmap]
rs17503934	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28357276	0.83[CHB][hapmap]
rs28357277	0.83[CHB][hapmap]
rs4391466	0.83[CHB][hapmap]
rs5005135	0.83[CHB][hapmap]
rs57075571	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469716	0.83[CHB][hapmap]
rs7007735	0.82[CHB][hapmap]
rs73320194	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7824327	0.83[CHB][hapmap]
rs7824395	0.83[CHB][hapmap]
rs7830840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842917	0.83[CHB][hapmap]
rs7843515	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118873600-118896200	Weak transcription	Fetal Stomach	stomach
2	chr8:118874800-118895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:118875400-118893600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:118876200-118889200	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:118876200-118894800	Weak transcription	Fetal Lung	lung
6	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
7	chr8:118876400-118889400	Weak transcription	Left Ventricle	heart
8	chr8:118876400-118894400	Weak transcription	Fetal Intestine Small	intestine
9	chr8:118877800-118896200	Weak transcription	HepG2	liver
10	chr8:118880600-118889200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:118880600-118889800	Weak transcription	A549	lung
12	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:118881400-118893800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:118881400-118904600	Weak transcription	Lung	lung
15	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
16	chr8:118881600-118892400	Weak transcription	HMEC	breast
17	chr8:118881800-118895400	Weak transcription	Liver	Liver
18	chr8:118881800-118895800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:118881800-118896400	Weak transcription	Fetal Heart	heart
20	chr8:118882800-118889400	Weak transcription	Spleen	Spleen
21	chr8:118884000-118891800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:118884000-118893200	Weak transcription	NHEK	skin
23	chr8:118884200-118893200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:118884400-118893200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:118884400-118895400	Weak transcription	Fetal Intestine Large	intestine
26	chr8:118884600-118889200	Weak transcription	HSMM	muscle
27	chr8:118884600-118890800	Enhancers	Osteobl	bone
28	chr8:118884800-118888800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:118885200-118889000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:118885600-118889400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:118885600-118895000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:118885800-118889400	Weak transcription	NH-A	brain
33	chr8:118886000-118889200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:118886400-118889000	Weak transcription	NHLF	lung
35	chr8:118886400-118889400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:118887400-118888200	Enhancers	Fetal Muscle Trunk	muscle
37	chr8:118887600-118888600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:118887600-118889000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr8:118887800-118888200	Enhancers	Ovary	ovary
40	chr8:118887800-118889000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:118887800-118890400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:118888000-118888200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:118888000-118888200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:118888000-118888200	Enhancers	Rectal Smooth Muscle	rectum
45	chr8:118888000-118888200	Enhancers	Small Intestine	intestine
46	chr8:118888000-118888400	Enhancers	Aorta	Aorta
47	chr8:118888000-118888400	Enhancers	HSMMtube	muscle
48	chr8:118888000-118888600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr8:118888000-118889400	Enhancers	Adipose Nuclei	Adipose
50	chr8:118888000-118890200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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