Variant report

Variant	rs17158583
Chromosome Location	chr7:83703019-83703020
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	chr7:83702133..83704652-chr7:83714505..83716977,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs13437857	0.85[TSI][hapmap]
rs1534075	1.00[CEU][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.92[TSI][hapmap]
rs16887610	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16887642	0.85[TSI][hapmap]
rs17158521	0.82[ASN][1000 genomes]
rs17158529	0.88[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.92[TSI][hapmap];0.82[ASN][1000 genomes]
rs17158532	1.00[CEU][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.92[TSI][hapmap];0.82[ASN][1000 genomes]
rs17158686	0.85[TSI][hapmap]
rs2372020	1.00[CEU][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];0.92[TSI][hapmap];0.82[ASN][1000 genomes]
rs3779441	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs41323648	0.87[CEU][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[ASN][1000 genomes]
rs59023591	0.82[ASN][1000 genomes]
rs59172728	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60359427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61482260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66493308	0.83[ASN][1000 genomes]
rs73185447	0.82[ASN][1000 genomes]
rs73185458	0.82[ASN][1000 genomes]
rs73185463	0.82[ASN][1000 genomes]
rs73185469	0.82[ASN][1000 genomes]
rs73185480	0.83[ASN][1000 genomes]
rs73187439	0.83[ASN][1000 genomes]
rs73187440	0.83[ASN][1000 genomes]
rs73187443	0.83[ASN][1000 genomes]
rs73187445	0.89[ASN][1000 genomes]
rs73187447	0.88[ASN][1000 genomes]
rs73187448	0.88[ASN][1000 genomes]
rs73187451	0.89[ASN][1000 genomes]
rs73187453	0.89[ASN][1000 genomes]
rs73187455	0.89[ASN][1000 genomes]
rs73187457	0.89[ASN][1000 genomes]
rs73187458	0.89[ASN][1000 genomes]
rs73187460	0.89[ASN][1000 genomes]
rs73187462	0.89[ASN][1000 genomes]
rs73187464	0.89[ASN][1000 genomes]
rs73187466	0.89[ASN][1000 genomes]
rs73187470	0.89[ASN][1000 genomes]
rs73187479	0.89[ASN][1000 genomes]
rs73187480	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73189355	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73189358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv888627	chr7:83659577-83708238	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv888628	chr7:83659577-83722691	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv508464	chr7:83698939-83714150	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17158583	SEMA3A	cis	lymphoblastoid	seeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83673800-83707600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:83689800-83714400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:83690600-83714600	Weak transcription	NHDF-Ad	bronchial
4	chr7:83692200-83714600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:83698200-83707600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:83698400-83708200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:83698600-83710400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:83698600-83715400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:83702400-83703600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:83702400-83703600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:83702600-83703200	Enhancers	Colon Smooth Muscle	Colon
12	chr7:83702600-83703200	Enhancers	A549	lung
13	chr7:83702600-83703200	Enhancers	HUVEC	blood vessel
14	chr7:83702600-83703400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:83702600-83703600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:83702600-83703800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:83702600-83703800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:83702800-83703200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:83702800-83703200	Enhancers	Brain Substantia Nigra	brain
20	chr7:83702800-83703200	Enhancers	NH-A	brain
21	chr7:83702800-83703400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:83702800-83703400	Enhancers	Dnd41	blood
23	chr7:83702800-83703600	Enhancers	Osteobl	bone
24	chr7:83702800-83707200	Weak transcription	Fetal Brain Male	brain
25	chr7:83703000-83703200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:83703000-83703600	Enhancers	Duodenum Smooth Muscle	Duodenum

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