Variant report

Variant	rs13328131
Chromosome Location	chr5:35698426-35698427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr5:35698155-35698463	HL-60	blood:	n/a	n/a
2	SPI1	chr5:35698168-35698474	GM12891	blood:	n/a	n/a
3	SPI1	chr5:35698186-35698448	GM12891	blood:	n/a	n/a
4	SPI1	chr5:35698172-35698433	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:35697548..35700372-chr5:35714640..35716643,2	MCF-7	breast:

Variant related genes	Relation type
SPEF2	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10052826	0.86[EUR][1000 genomes]
rs10061088	1.00[CHD][hapmap]
rs10069346	1.00[CHD][hapmap]
rs10075324	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10472261	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10472978	1.00[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11491443	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13359710	0.82[MEX][hapmap]
rs286444	0.82[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs366709	1.00[ASN][1000 genomes]
rs452060	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6891096	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs73082282	1.00[ASN][1000 genomes]
rs7700662	0.82[MEX][hapmap]
rs7703605	1.00[CHD][hapmap]

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	nsv525477	chr5:35530905-35792990	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv880510	chr5:35659239-35709184	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv881146	chr5:35659239-35714851	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1843371	chr5:35668036-35706279	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13328131	RND3	trans	lymphoblastoid	seeQTL
rs13328131	HSPA6	trans	brain	seeQTL
rs13328131	DHDH	trans	brain	seeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35630600-35707600	Weak transcription	Pancreas	Pancrea
2	chr5:35672000-35708600	Weak transcription	Gastric	stomach
3	chr5:35680000-35698600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:35681000-35707600	Weak transcription	Primary T cells from cord blood	blood
5	chr5:35684600-35708600	Weak transcription	Fetal Kidney	kidney
6	chr5:35684800-35703600	Weak transcription	Fetal Intestine Small	intestine
7	chr5:35686200-35709600	Weak transcription	Fetal Lung	lung
8	chr5:35691600-35702400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:35691800-35704000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:35693400-35698800	Weak transcription	Lung	lung
11	chr5:35693800-35714000	Weak transcription	Brain Anterior Caudate	brain
12	chr5:35695000-35711000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:35695200-35703000	Weak transcription	Brain Angular Gyrus	brain
14	chr5:35696600-35699000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:35696600-35699400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr5:35696800-35699400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:35697000-35710600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:35697000-35717000	Weak transcription	Left Ventricle	heart
19	chr5:35697200-35708200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:35697200-35709600	Weak transcription	Right Ventricle	heart
21	chr5:35697600-35709000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:35697600-35709200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:35698000-35698600	Enhancers	Primary B cells from cord blood	blood
24	chr5:35698200-35699000	Strong transcription	Aorta	Aorta
25	chr5:35698200-35699000	Strong transcription	Ovary	ovary

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