Variant report

Variant	rs6982592
Chromosome Location	chr8:110613000-110613001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110605797..110607546-chr8:110612982..110614483,2	MCF-7	breast:
2	chr8:110612107..110614990-chr8:110621772..110623731,2	MCF-7	breast:
3	chr8:110601515..110604234-chr8:110611916..110615052,3	MCF-7	breast:
4	chr8:110604868..110607165-chr8:110611365..110613319,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12541569	1.00[CHB][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12543415	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12548910	1.00[ASN][1000 genomes]
rs17375750	1.00[CHB][hapmap]
rs17450206	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[ASN][1000 genomes]
rs17450520	1.00[ASW][hapmap];1.00[CHB][hapmap];0.83[MEX][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61734661	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6469264	1.00[CHB][hapmap]
rs6988341	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6989019	0.93[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6990312	0.86[GIH][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs6995033	1.00[CHB][hapmap]
rs7000579	0.80[YRI][hapmap]
rs7008100	0.89[YRI][hapmap]
rs7813648	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7824177	1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[ASN][1000 genomes]
rs7828075	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7833753	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs7839394	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7842842	1.00[CHB][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6982592	ANGPT1	cis	parietal	SCAN
rs6982592	EBAG9	cis	parietal	SCAN

Chromatin state (count:76 , 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	chr8:110598800-110615000	Weak transcription	Ovary	ovary
4	chr8:110602400-110613200	Weak transcription	Psoas Muscle	Psoas
5	chr8:110602400-110615000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:110602600-110615200	Weak transcription	Adipose Nuclei	Adipose
7	chr8:110605800-110615200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:110606000-110615200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:110606200-110615400	Weak transcription	Fetal Kidney	kidney
10	chr8:110606600-110613400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:110607000-110613000	Weak transcription	Brain Substantia Nigra	brain
12	chr8:110607000-110617000	Weak transcription	Hela-S3	cervix
13	chr8:110607200-110615200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:110607600-110615800	Enhancers	Fetal Brain Male	brain
15	chr8:110607800-110615200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:110607800-110615200	Weak transcription	Left Ventricle	heart
17	chr8:110608000-110613000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:110608000-110613000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:110608000-110613400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:110608000-110615200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:110608000-110615200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:110608200-110613000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:110608200-110613000	Weak transcription	A549	lung
24	chr8:110608400-110613000	Weak transcription	HepG2	liver
25	chr8:110608800-110613600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:110609000-110614200	Enhancers	Liver	Liver
27	chr8:110609200-110613800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:110609600-110613000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:110609600-110613000	Weak transcription	Gastric	stomach
30	chr8:110609600-110615000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:110610400-110613000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:110610400-110613200	Weak transcription	NHEK	skin
33	chr8:110610400-110613400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr8:110610600-110613000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:110610600-110613000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:110610600-110613000	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:110610600-110613200	Weak transcription	Brain Germinal Matrix	brain
38	chr8:110610600-110618200	Weak transcription	GM12878-XiMat	blood
39	chr8:110610600-110618600	Weak transcription	HMEC	breast
40	chr8:110610800-110613000	Weak transcription	NHDF-Ad	bronchial
41	chr8:110610800-110615000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:110610800-110615200	Enhancers	Stomach Mucosa	stomach
43	chr8:110611200-110613200	Weak transcription	Brain Anterior Caudate	brain
44	chr8:110611400-110615000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:110611600-110614400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr8:110611800-110614200	Enhancers	HSMMtube	muscle
47	chr8:110611800-110617600	Enhancers	Pancreas	Pancrea
48	chr8:110612000-110613000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:110612000-110613800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:110612000-110614600	Enhancers	Brain Angular Gyrus	brain

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