Variant report

Variant	rs1555457
Chromosome Location	chr9:117674320-117674321
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	chr9:117443850..117445001-chr9:117673133..117675031,14	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1006025	0.83[ASN][1000 genomes]
rs1006026	0.83[ASN][1000 genomes]
rs1006027	0.83[ASN][1000 genomes]
rs10817683	0.83[ASN][1000 genomes]
rs10817684	0.83[ASN][1000 genomes]
rs10982449	0.83[ASN][1000 genomes]
rs10982450	0.83[ASN][1000 genomes]
rs10982451	0.83[ASN][1000 genomes]
rs10982453	0.83[ASN][1000 genomes]
rs10982454	0.83[ASN][1000 genomes]
rs10982455	0.83[ASN][1000 genomes]
rs1322058	0.80[CHD][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs1322059	0.88[JPT][hapmap]
rs1322060	0.88[JPT][hapmap]
rs1555456	0.81[ASN][1000 genomes]
rs17292087	0.82[ASN][1000 genomes]
rs2075534	0.81[ASN][1000 genomes]
rs2208640	0.83[ASN][1000 genomes]
rs5003740	0.85[AFR][1000 genomes]
rs7028578	0.83[ASN][1000 genomes]
rs7036962	0.83[ASN][1000 genomes]
rs7037640	0.83[ASN][1000 genomes]
rs726656	0.88[JPT][hapmap]
rs726657	0.88[JPT][hapmap]
rs7872878	0.83[ASN][1000 genomes]
rs927373	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	nsv831695	chr9:117567626-117726247	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv893767	chr9:117627569-117689838	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1555457	SVEP1	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117662200-117676200	Weak transcription	Gastric	stomach
2	chr9:117667800-117683600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr9:117670800-117687200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr9:117671000-117674600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr9:117671200-117676800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:117671600-117675000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr9:117671800-117674800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr9:117671800-117676600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:117671800-117676800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr9:117672000-117674400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
11	chr9:117672000-117674400	Enhancers	Dnd41	blood
12	chr9:117672200-117676600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr9:117672400-117681600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr9:117672600-117675000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr9:117672800-117682000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr9:117672800-117682600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr9:117673000-117675400	Weak transcription	Primary B cells from cord blood	blood
18	chr9:117673200-117674800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:117673200-117675000	Weak transcription	Brain Hippocampus Middle	brain
20	chr9:117673200-117676800	Strong transcription	Primary T cells from cord blood	blood
21	chr9:117673200-117677000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr9:117673200-117683000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr9:117673200-117692400	Weak transcription	Spleen	Spleen
24	chr9:117673400-117678800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr9:117673600-117674400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr9:117673600-117674800	Enhancers	Thymus	Thymus
27	chr9:117673600-117676600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr9:117673600-117677000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr9:117673800-117675200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr9:117673800-117675400	Weak transcription	Fetal Lung	lung
31	chr9:117673800-117675600	Weak transcription	Fetal Thymus	thymus
32	chr9:117673800-117676000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr9:117674000-117675000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr9:117674200-117675000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr9:117674200-117676400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr9:117674200-117676600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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