Variant report

Variant	rs2513850
Chromosome Location	chr8:98991618-98991619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98985735..98990217-chr8:98991050..98995817,5	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1869609	0.81[CEU][hapmap]
rs2444892	0.83[CHD][hapmap]
rs2513852	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]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2513850	MTERFD1	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98968200-98993800	Weak transcription	Esophagus	oesophagus
2	chr8:98970000-98992200	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:98976200-98996200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:98980200-98994800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:98982800-98994000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:98983000-98994000	Weak transcription	Left Ventricle	heart
7	chr8:98985600-98992000	Weak transcription	Fetal Stomach	stomach
8	chr8:98985600-98992200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:98985600-98993600	Weak transcription	Brain Angular Gyrus	brain
10	chr8:98985600-98993600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:98985600-98993800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:98985600-98995800	Weak transcription	A549	lung
13	chr8:98986000-98993800	Weak transcription	Brain Substantia Nigra	brain
14	chr8:98986000-98997400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:98987000-98992800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:98987400-98998400	Weak transcription	Pancreas	Pancrea
17	chr8:98988000-99011800	Weak transcription	Aorta	Aorta
18	chr8:98989200-98997200	Weak transcription	Liver	Liver
19	chr8:98990200-98993600	Weak transcription	Ovary	ovary
20	chr8:98990400-98994000	Weak transcription	Fetal Intestine Large	intestine
21	chr8:98990600-98992600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr8:98990600-98997200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:98990800-98993800	Weak transcription	Gastric	stomach
24	chr8:98990800-98997000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:98991000-98993200	Weak transcription	Placenta	Placenta
26	chr8:98991000-98993400	Strong transcription	Fetal Muscle Leg	muscle
27	chr8:98991000-98994000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:98991000-98994200	Enhancers	NHDF-Ad	bronchial
29	chr8:98991000-98997800	Enhancers	Osteobl	bone
30	chr8:98991200-98992600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:98991200-98992600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr8:98991200-98992800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:98991200-98993000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr8:98991200-98994200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:98991200-98994600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:98991400-98992400	Strong transcription	Adipose Nuclei	Adipose
37	chr8:98991400-98992600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:98991400-98992600	Bivalent Enhancer	GM12878-XiMat	blood
39	chr8:98991400-98992800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr8:98991400-98993000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:98991400-98993200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:98991400-98994400	Enhancers	NH-A	brain
43	chr8:98991400-98994600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:98991600-98992800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr8:98991600-98993200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr8:98991600-98994000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:98991600-98994400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr8:98991600-98994400	Enhancers	HSMM	muscle

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