Variant report

Variant	rs2513852
Chromosome Location	chr8:99008727-99008728
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99000977..99004318-chr8:99007120..99009154,3	K562	blood:
2	chr8:99005306..99006937-chr8:99007959..99009953,2	MCF-7	breast:
3	chr8:99006609..99009034-chr8:99014356..99016713,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2248014	0.85[CHD][hapmap];0.85[MEX][hapmap]
rs2255464	0.85[CHD][hapmap]
rs2444860	0.81[MEX][hapmap]
rs2444892	0.90[CHD][hapmap];0.85[MEX][hapmap];0.82[YRI][hapmap]
rs2513850	0.85[CEU][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.80[JPT][hapmap];0.86[MEX][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2615	0.85[CHD][hapmap]

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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1801513	chr8:98996645-99009024	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2513852	MTERFD1	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98988000-99011800	Weak transcription	Aorta	Aorta
2	chr8:98992600-99019400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:98994200-99014800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:98994600-99014200	Weak transcription	Ovary	ovary
5	chr8:99003600-99013200	Weak transcription	Brain Anterior Caudate	brain
6	chr8:99005800-99009200	Enhancers	Osteobl	bone
7	chr8:99006000-99009600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:99006200-99008800	Enhancers	HSMM	muscle
9	chr8:99006400-99008800	Enhancers	Fetal Brain Male	brain
10	chr8:99006400-99010000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:99006600-99009400	Enhancers	NHLF	lung
12	chr8:99006800-99008800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr8:99007000-99009000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:99007000-99009600	Enhancers	Fetal Muscle Leg	muscle
15	chr8:99007000-99014200	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:99007200-99008800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:99007200-99008800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:99007200-99009000	Enhancers	HSMMtube	muscle
19	chr8:99007400-99008800	Weak transcription	Pancreas	Pancrea
20	chr8:99007400-99009000	Enhancers	Placenta	Placenta
21	chr8:99007400-99009400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:99007400-99014000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:99007400-99014000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:99007800-99008800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:99007800-99008800	Enhancers	NH-A	brain
26	chr8:99007800-99009200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:99007800-99010000	Enhancers	NHDF-Ad	bronchial
28	chr8:99008000-99009000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:99008000-99009000	Enhancers	Hela-S3	cervix
30	chr8:99008000-99009600	Genic enhancers	Fetal Stomach	stomach
31	chr8:99008200-99009600	Enhancers	Fetal Muscle Trunk	muscle
32	chr8:99008200-99009800	Enhancers	Right Atrium	heart
33	chr8:99008200-99015400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:99008400-99008800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:99008400-99009000	Enhancers	Esophagus	oesophagus
36	chr8:99008400-99009200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:99008400-99009600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr8:99008400-99009800	Enhancers	Adipose Nuclei	Adipose
39	chr8:99008400-99010000	Enhancers	Colon Smooth Muscle	Colon
40	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
41	chr8:99008600-99009000	Enhancers	Brain Angular Gyrus	brain
42	chr8:99008600-99013000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:99008600-99013400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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