Variant report

Variant	rs1318553
Chromosome Location	chr13:76416960-76416961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10507836	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10507837	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs10507838	0.91[EUR][1000 genomes]
rs12869260	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17065177	0.96[EUR][1000 genomes]
rs17657837	0.96[EUR][1000 genomes]
rs17713028	0.93[EUR][1000 genomes]
rs17714871	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs34440314	0.91[EUR][1000 genomes]
rs34674775	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34832254	0.91[EUR][1000 genomes]
rs34897927	0.89[EUR][1000 genomes]
rs34902046	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34959967	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34973043	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35254061	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs617686	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs625033	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs71434812	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71434813	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71434814	0.95[EUR][1000 genomes]
rs71434815	0.95[EUR][1000 genomes]
rs727020	0.91[EUR][1000 genomes]
rs7988661	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7988841	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7991366	0.91[EUR][1000 genomes]
rs7993408	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7997504	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7997894	0.91[EUR][1000 genomes]
rs9600584	0.91[EUR][1000 genomes]
rs9600585	0.91[EUR][1000 genomes]
rs9600586	0.91[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1318553	LMO7	cis	parietal	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76387800-76427200	Weak transcription	Ovary	ovary
2	chr13:76391200-76418600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:76391200-76431600	Strong transcription	Hela-S3	cervix
4	chr13:76394400-76435800	Weak transcription	Colon Smooth Muscle	Colon
5	chr13:76396400-76432000	Weak transcription	Brain Substantia Nigra	brain
6	chr13:76396400-76436800	Weak transcription	Fetal Brain Male	brain
7	chr13:76399000-76433200	Weak transcription	Small Intestine	intestine
8	chr13:76399800-76433000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr13:76400800-76428400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:76404800-76418400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr13:76406000-76417000	Weak transcription	GM12878-XiMat	blood
12	chr13:76406000-76428600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:76406000-76429600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr13:76406000-76430600	Strong transcription	Osteobl	bone
15	chr13:76406000-76436800	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr13:76406600-76435000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:76406800-76427800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:76408400-76435000	Strong transcription	HSMMtube	muscle
19	chr13:76408400-76435200	Strong transcription	NH-A	brain
20	chr13:76409200-76417000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:76410200-76419600	Strong transcription	Fetal Intestine Large	intestine
22	chr13:76410400-76417600	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr13:76410800-76417200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr13:76411000-76420600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr13:76411200-76418600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr13:76412400-76419200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr13:76412800-76417600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:76412800-76419800	Strong transcription	HepG2	liver
29	chr13:76412800-76420200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr13:76413200-76436800	Strong transcription	NHDF-Ad	bronchial
31	chr13:76413600-76419200	Strong transcription	NHLF	lung
32	chr13:76413800-76437600	Strong transcription	HSMM	muscle
33	chr13:76414000-76433000	Strong transcription	Liver	Liver
34	chr13:76414200-76417600	Genic enhancers	Thymus	Thymus
35	chr13:76414200-76417800	Strong transcription	Placenta	Placenta
36	chr13:76414200-76418000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr13:76414200-76419200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr13:76414200-76420400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:76414200-76433400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr13:76414400-76417600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr13:76414400-76417600	Strong transcription	Gastric	stomach
42	chr13:76414400-76417600	Strong transcription	Pancreas	Pancrea
43	chr13:76414400-76417800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:76414400-76417800	Strong transcription	Aorta	Aorta
45	chr13:76414400-76418200	Strong transcription	Fetal Muscle Leg	muscle
46	chr13:76414400-76419000	Strong transcription	Fetal Intestine Small	intestine
47	chr13:76414400-76419200	Strong transcription	Right Ventricle	heart
48	chr13:76414400-76419200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr13:76414400-76426200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:76414400-76435200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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