Variant report

Variant	rs12679774
Chromosome Location	chr8:125763284-125763285
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125760144..125761703-chr8:125762855..125765412,2	MCF-7	breast:
2	chr8:125760544..125764834-chr8:125765682..125769658,5	MCF-7	breast:
3	chr8:125762504..125764135-chr8:125782972..125785027,2	MCF-7	breast:
4	chr8:125761135..125763441-chr8:126050388..126052207,2	K562	blood:
5	chr8:125603844..125606366-chr8:125762681..125764828,2	MCF-7	breast:
6	chr8:125760489..125763327-chr8:125826229..125828714,2	K562	blood:
7	chr8:125549640..125552383-chr8:125762856..125765386,2	MCF-7	breast:
8	chr8:125739315..125742031-chr8:125763198..125766273,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10087913	0.89[ASN][1000 genomes]
rs1430849	0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs2891101	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4870925	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7824749	0.86[ASN][1000 genomes]
rs7844808	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs891539	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs891544	0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs967943	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891435	chr8:125747374-125764361	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv517427	chr8:125749707-125766271	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125756000-125763800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:125756000-125763800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:125756000-125763800	Weak transcription	Osteobl	bone
4	chr8:125759800-125764800	Enhancers	Fetal Heart	heart
5	chr8:125760400-125764600	Enhancers	K562	blood
6	chr8:125761200-125763600	Weak transcription	Fetal Intestine Large	intestine
7	chr8:125761400-125763800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:125761400-125766200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:125761600-125772200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:125761800-125764000	Weak transcription	Esophagus	oesophagus
11	chr8:125761800-125764000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:125762000-125763400	Weak transcription	Stomach Mucosa	stomach
13	chr8:125762600-125763400	Enhancers	Brain Hippocampus Middle	brain
14	chr8:125762600-125764000	Enhancers	HUVEC	blood vessel
15	chr8:125762600-125764600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:125762600-125765400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:125762800-125763400	Enhancers	Right Ventricle	heart
18	chr8:125762800-125763800	Weak transcription	Spleen	Spleen
19	chr8:125762800-125764600	Enhancers	Primary B cells from cord blood	blood
20	chr8:125762800-125764600	Enhancers	Left Ventricle	heart
21	chr8:125762800-125764800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:125762800-125765000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:125762800-125765800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:125763000-125763600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr8:125763000-125764800	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:125763000-125764800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:125763000-125765000	Enhancers	Primary hematopoietic stem cells	blood
28	chr8:125763200-125763600	Enhancers	Adipose Nuclei	Adipose
29	chr8:125763200-125764800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:125763200-125767400	Weak transcription	Right Atrium	heart

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