Variant report

Variant	rs6989019
Chromosome Location	chr8:110608843-110608844
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr8:110608452-110609097	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110608664..110610842-chr8:110615252..110617482,2	K562	blood:
2	chr20:49345474..49348260-chr8:110608590..110610403,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252559	TF binding region
ENSG00000147642	Chromatin interaction
ENSG00000124171	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58874286	0.92[ASN][1000 genomes]
rs6982592	0.93[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6990312	0.83[EUR][1000 genomes]
rs7833753	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv519645	chr8:110602317-110613000	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553800-110613000	Weak transcription	NHLF	lung
2	chr8:110590200-110654800	Weak transcription	Lung	lung
3	chr8:110591600-110609400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:110598800-110615000	Weak transcription	Ovary	ovary
5	chr8:110601800-110612600	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:110602400-110610200	Weak transcription	Brain Germinal Matrix	brain
7	chr8:110602400-110613200	Weak transcription	Psoas Muscle	Psoas
8	chr8:110602400-110615000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:110602600-110615200	Weak transcription	Adipose Nuclei	Adipose
10	chr8:110603200-110610400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:110603200-110610800	Enhancers	Primary B cells from peripheral blood	blood
12	chr8:110604000-110609800	Enhancers	Primary B cells from cord blood	blood
13	chr8:110605800-110615200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:110606000-110615200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:110606200-110615400	Weak transcription	Fetal Kidney	kidney
16	chr8:110606400-110611800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:110606600-110609400	Weak transcription	Fetal Brain Female	brain
18	chr8:110606600-110609400	Weak transcription	HMEC	breast
19	chr8:110606600-110609800	Weak transcription	NHEK	skin
20	chr8:110606600-110610400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:110606600-110610800	Weak transcription	Stomach Mucosa	stomach
22	chr8:110606600-110613400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:110606800-110609400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:110606800-110609400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:110607000-110610400	Weak transcription	Brain Anterior Caudate	brain
26	chr8:110607000-110612800	Weak transcription	HSMM	muscle
27	chr8:110607000-110613000	Weak transcription	Brain Substantia Nigra	brain
28	chr8:110607000-110617000	Weak transcription	Hela-S3	cervix
29	chr8:110607200-110609400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:110607200-110615200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:110607600-110615800	Enhancers	Fetal Brain Male	brain
32	chr8:110607800-110612000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:110607800-110615200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:110607800-110615200	Weak transcription	Left Ventricle	heart
35	chr8:110608000-110609200	Weak transcription	Gastric	stomach
36	chr8:110608000-110609200	Weak transcription	NHDF-Ad	bronchial
37	chr8:110608000-110609400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:110608000-110611600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:110608000-110611800	Weak transcription	HSMMtube	muscle
40	chr8:110608000-110612000	Weak transcription	Brain Angular Gyrus	brain
41	chr8:110608000-110613000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:110608000-110613000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:110608000-110613400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:110608000-110615200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:110608000-110615200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:110608200-110612400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:110608200-110613000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:110608200-110613000	Weak transcription	A549	lung
49	chr8:110608400-110609200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:110608400-110609200	Weak transcription	Pancreas	Pancrea

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