Variant report

Variant	rs755424
Chromosome Location	chr17:66780395-66780396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12232473	0.91[ASN][1000 genomes]
rs1348372	0.91[ASN][1000 genomes]
rs2120192	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4968941	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7217811	0.92[ASN][1000 genomes]
rs72843205	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7502630	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7502934	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8081909	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9302982	0.92[ASN][1000 genomes]
rs935138	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs755424	CSHL1	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66768600-66789200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr17:66775000-66781800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:66778400-66780800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:66778600-66780400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr17:66778800-66780600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:66778800-66781200	Enhancers	HSMMtube	muscle
7	chr17:66779000-66780600	Enhancers	Fetal Muscle Leg	muscle
8	chr17:66779000-66780800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:66779200-66780400	Enhancers	HSMM	muscle
10	chr17:66779200-66780800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:66779400-66781000	Enhancers	Adipose Nuclei	Adipose
12	chr17:66779600-66780400	Enhancers	Fetal Muscle Trunk	muscle
13	chr17:66779600-66780400	Enhancers	Left Ventricle	heart
14	chr17:66779600-66780400	Enhancers	Psoas Muscle	Psoas
15	chr17:66779600-66780800	Enhancers	NHDF-Ad	bronchial
16	chr17:66779800-66780400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:66779800-66780800	Enhancers	Brain Substantia Nigra	brain
18	chr17:66779800-66781000	Enhancers	HepG2	liver
19	chr17:66780000-66780400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:66780000-66780400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:66780000-66780400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr17:66780000-66780400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:66780000-66780400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr17:66780000-66780400	Enhancers	Placenta	Placenta
25	chr17:66780000-66780400	Enhancers	Pancreas	Pancrea
26	chr17:66780000-66780400	Enhancers	Right Atrium	heart
27	chr17:66780000-66780400	Enhancers	NHLF	lung
28	chr17:66780000-66780600	Enhancers	Brain Angular Gyrus	brain
29	chr17:66780000-66780600	Enhancers	Fetal Intestine Large	intestine
30	chr17:66780000-66780600	Enhancers	Fetal Intestine Small	intestine
31	chr17:66780000-66780600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr17:66780000-66780800	Enhancers	Brain Anterior Caudate	brain
33	chr17:66780000-66780800	Enhancers	Brain Hippocampus Middle	brain
34	chr17:66780000-66780800	Enhancers	Ovary	ovary
35	chr17:66780000-66781200	Enhancers	Fetal Lung	lung
36	chr17:66780000-66781200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr17:66780200-66780400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr17:66780200-66780400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:66780200-66780600	Enhancers	Hela-S3	cervix
40	chr17:66780200-66780600	Weak transcription	Osteobl	bone

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