Variant report

Variant	rs17065177
Chromosome Location	chr13:76439853-76439854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76438174..76440869-chr13:76485798..76487391,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10507836	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs10507837	1.00[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10507838	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12869260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1318553	0.96[EUR][1000 genomes]
rs17065146	1.00[CHB][hapmap]
rs17657837	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17713028	0.89[EUR][1000 genomes]
rs17714871	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs34440314	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34674775	0.96[EUR][1000 genomes]
rs34832254	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34897927	0.93[EUR][1000 genomes]
rs34902046	0.96[EUR][1000 genomes]
rs34959967	0.96[EUR][1000 genomes]
rs34973043	0.96[EUR][1000 genomes]
rs35254061	0.93[EUR][1000 genomes]
rs617686	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs625033	1.00[CEU][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs71434812	0.96[EUR][1000 genomes]
rs71434813	0.98[EUR][1000 genomes]
rs71434814	0.98[EUR][1000 genomes]
rs71434815	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs727020	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7988661	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs7988841	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7991366	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7993408	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs7997504	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7997894	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7998163	0.95[ASN][1000 genomes]
rs9600558	1.00[CHB][hapmap]
rs9600561	1.00[CHB][hapmap]
rs9600584	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9600585	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9600586	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]

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	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17065177	LMO7	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76417400-76443800	Weak transcription	Fetal Brain Female	brain
2	chr13:76417600-76444600	Weak transcription	HMEC	breast
3	chr13:76424400-76444200	Weak transcription	Fetal Lung	lung
4	chr13:76427400-76440800	Weak transcription	Ovary	ovary
5	chr13:76428000-76444600	Weak transcription	Fetal Kidney	kidney
6	chr13:76428000-76444800	Weak transcription	Esophagus	oesophagus
7	chr13:76428200-76444400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:76428400-76444600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:76428400-76444600	Weak transcription	Fetal Heart	heart
10	chr13:76429600-76444600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr13:76431000-76444600	Weak transcription	Aorta	Aorta
12	chr13:76431600-76444600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:76432000-76444600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:76432200-76443600	Weak transcription	Primary T cells from cord blood	blood
15	chr13:76432200-76444200	Weak transcription	GM12878-XiMat	blood
16	chr13:76432200-76444600	Weak transcription	Fetal Intestine Small	intestine
17	chr13:76432200-76444600	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:76432200-76444600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr13:76433000-76444400	Weak transcription	Liver	Liver
20	chr13:76433400-76444200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr13:76435000-76443800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:76435200-76444200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:76435400-76443200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr13:76435600-76444400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:76436000-76444000	Weak transcription	Fetal Thymus	thymus
26	chr13:76437200-76444600	Weak transcription	HSMMtube	muscle
27	chr13:76437400-76440000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:76437600-76440000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr13:76437800-76440000	Enhancers	Osteobl	bone
30	chr13:76438000-76444200	Weak transcription	NHDF-Ad	bronchial
31	chr13:76438200-76444000	Weak transcription	Hela-S3	cervix
32	chr13:76439000-76440000	Strong transcription	HSMM	muscle
33	chr13:76439000-76441000	Weak transcription	NHLF	lung
34	chr13:76439200-76444200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:76439800-76440000	Bivalent Enhancer	HepG2	liver
36	chr13:76439800-76444400	Weak transcription	A549	lung

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