Variant report

Variant	rs3181354
Chromosome Location	chr9:117693173-117693174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10982521	1.00[JPT][hapmap]
rs11793394	1.00[JPT][hapmap]
rs11795369	0.88[AFR][1000 genomes]
rs12380758	1.00[JPT][hapmap]
rs1407308	1.00[JPT][hapmap]
rs1513	1.00[JPT][hapmap]
rs2418326	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4979474	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726658	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7847158	1.00[JPT][hapmap]

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	nsv6680	chr9:117690388-117699304	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	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
rs3181354	ASTN2	cis	cerebellum	SCAN
rs3181354	KIAA1958	cis	parietal	SCAN
rs3181354	SNORA70C	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117687800-117693400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:117689000-117693400	Active TSS	Thymus	Thymus
3	chr9:117689400-117693600	Flanking Active TSS	Dnd41	blood
4	chr9:117689600-117693600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:117689800-117693200	Active TSS	Adipose Nuclei	Adipose
6	chr9:117690600-117693400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:117691200-117693400	Active TSS	Rectal Smooth Muscle	rectum
8	chr9:117691800-117693400	Active TSS	Brain Anterior Caudate	brain
9	chr9:117691800-117693800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr9:117692200-117693600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr9:117692400-117693200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:117692400-117693200	Flanking Active TSS	Fetal Thymus	thymus
13	chr9:117692400-117693400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr9:117692400-117693400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr9:117692400-117693400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr9:117692400-117693600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr9:117692400-117693800	Enhancers	Spleen	Spleen
18	chr9:117692600-117693400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr9:117692600-117693600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr9:117692600-117693800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr9:117692800-117693200	Bivalent Enhancer	GM12878-XiMat	blood
22	chr9:117692800-117693400	Weak transcription	Esophagus	oesophagus
23	chr9:117692800-117693400	Weak transcription	Right Atrium	heart
24	chr9:117692800-117693600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr9:117692800-117695200	Enhancers	Fetal Lung	lung
26	chr9:117693000-117693200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr9:117693000-117693400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr9:117693000-117693400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr9:117693000-117693400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr9:117693000-117693400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr9:117693000-117693400	Enhancers	Duodenum Mucosa	Duodenum
32	chr9:117693000-117693400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
33	chr9:117693000-117693600	Enhancers	Primary B cells from peripheral blood	blood
34	chr9:117693000-117693600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr9:117693000-117693600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr9:117693000-117693600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr9:117693000-117693800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr9:117693000-117694000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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