Variant report

Variant	rs7386870
Chromosome Location	chr8:131430133-131430134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131424461..131426779-chr8:131428555..131431451,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28587625	0.84[EUR][1000 genomes]
rs2912191	0.81[CEU][hapmap]
rs35091752	0.87[EUR][1000 genomes]
rs3924865	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6980501	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6995074	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs7839214	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][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	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:131414400-131431400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:131414600-131431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
6	chr8:131421000-131433400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:131422000-131431400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:131422200-131431200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:131424400-131431200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:131424600-131433800	Weak transcription	HepG2	liver
11	chr8:131427200-131433200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:131427600-131432400	Enhancers	Fetal Muscle Trunk	muscle
13	chr8:131427600-131432600	Enhancers	Fetal Muscle Leg	muscle
14	chr8:131427800-131433400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:131428000-131430200	Enhancers	Stomach Smooth Muscle	stomach
16	chr8:131428000-131430400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:131428000-131430400	Enhancers	HSMM	muscle
18	chr8:131428000-131431600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:131428200-131430200	Enhancers	HMEC	breast
20	chr8:131428200-131430400	Enhancers	NHLF	lung
21	chr8:131428200-131430600	Enhancers	NHDF-Ad	bronchial
22	chr8:131428200-131435200	Enhancers	Left Ventricle	heart
23	chr8:131428400-131430200	Genic enhancers	A549	lung
24	chr8:131428400-131430600	Enhancers	Right Atrium	heart
25	chr8:131428600-131430600	Enhancers	Fetal Heart	heart
26	chr8:131428600-131431200	Weak transcription	Esophagus	oesophagus
27	chr8:131428600-131432400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr8:131428800-131430200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:131428800-131430600	Enhancers	Lung	lung
30	chr8:131428800-131430600	Enhancers	Right Ventricle	heart
31	chr8:131428800-131431200	Weak transcription	Psoas Muscle	Psoas
32	chr8:131428800-131431400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:131428800-131431800	Enhancers	HUVEC	blood vessel
34	chr8:131429000-131430400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:131429000-131431400	Weak transcription	Fetal Stomach	stomach
36	chr8:131429000-131431600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:131429000-131446800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:131429000-131454800	Weak transcription	Aorta	Aorta
39	chr8:131429200-131431200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:131429200-131432400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:131429200-131434400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:131429200-131444800	Weak transcription	HSMMtube	muscle
43	chr8:131429400-131430200	Strong transcription	NH-A	brain
44	chr8:131429400-131430400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:131429400-131430400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:131429400-131430400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr8:131429400-131431200	Weak transcription	GM12878-XiMat	blood
48	chr8:131429400-131431200	Weak transcription	Osteobl	bone
49	chr8:131429400-131434000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:131429400-131436600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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