Variant report

Variant	rs2513851
Chromosome Location	chr8:99002078-99002079
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	chr8:99000977..99004318-chr8:99007120..99009154,3	K562	blood:
2	chr8:98994950..98998234-chr8:99001793..99004607,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10091886	1.00[JPT][hapmap]
rs1020654	1.00[JPT][hapmap]
rs1020655	1.00[JPT][hapmap]
rs12548243	1.00[JPT][hapmap]
rs1378123	1.00[JPT][hapmap]
rs1378124	1.00[JPT][hapmap]
rs1378125	1.00[JPT][hapmap]
rs1378126	1.00[JPT][hapmap]
rs1454714	1.00[JPT][hapmap]
rs2444868	0.85[ASN][1000 genomes]
rs2444879	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2444902	1.00[JPT][hapmap]
rs2512034	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2512035	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs2513845	0.92[CHD][hapmap];0.89[JPT][hapmap]
rs2513846	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2513847	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4469426	1.00[JPT][hapmap]
rs4512352	1.00[JPT][hapmap]
rs5012370	1.00[JPT][hapmap]
rs56050019	0.83[AFR][1000 genomes]
rs6468603	1.00[JPT][hapmap]
rs897190	1.00[JPT][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2513851	LAPTM4B	cis	lymphoblastoid	seeQTL
rs2513851	CXCR3	trans	lymphoblastoid	seeQTL

Chromatin state (count:24 , 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	chr8:98994400-99003200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:98994600-99008200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:98994600-99008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:98994600-99014200	Weak transcription	Ovary	ovary
8	chr8:98995200-99008000	Weak transcription	Fetal Stomach	stomach
9	chr8:98995800-99003400	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:98996400-99006000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:98996600-99006800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:98997000-99002400	Weak transcription	HMEC	breast
13	chr8:98997000-99002400	Weak transcription	NHEK	skin
14	chr8:98997000-99003000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:98997600-99003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:98997600-99003400	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:98997800-99003000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:98998200-99006600	Weak transcription	NHLF	lung
19	chr8:99001800-99002200	Enhancers	NHDF-Ad	bronchial
20	chr8:99001800-99003800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:99002000-99002200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:99002000-99002200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:99002000-99003000	Enhancers	NH-A	brain
24	chr8:99002000-99003600	Enhancers	Osteobl	bone

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