Variant report

Variant	rs17244132
Chromosome Location	chr7:83878412-83878413
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	chr7:83875965..83878542-chr7:83880011..83883471,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1003787	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954751	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972960	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540147	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12671964	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672520	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221565	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13245457	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1989964	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs507352	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs554026	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs594533	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs614105	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs664988	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv5818	chr7:83874968-83919804	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17244132	SEMA3A	cis	lymphoblastoid	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83875200-83879600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:83875400-83880600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:83875800-83893800	Weak transcription	NHDF-Ad	bronchial
4	chr7:83876800-83881000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:83877000-83879600	Weak transcription	NH-A	brain
6	chr7:83877000-83880000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:83877200-83879200	Enhancers	Primary B cells from cord blood	blood
8	chr7:83877400-83878600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:83877400-83880200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:83877400-83880800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:83877600-83878600	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:83877800-83878600	Enhancers	GM12878-XiMat	blood
13	chr7:83877800-83878800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:83877800-83879200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:83877800-83880000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:83877800-83880600	Weak transcription	NHLF	lung
17	chr7:83878000-83878600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:83878200-83878600	Enhancers	Colon Smooth Muscle	Colon
19	chr7:83878400-83879800	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:83878400-83880200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:83878400-83880400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:83878400-83880600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:83878400-83884600	Weak transcription	Fetal Lung	lung

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