Variant report

Variant	rs7994141
Chromosome Location	chr13:48774250-48774251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1749976	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1925747	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2182220	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2406802	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406804	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765074	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2765075	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4942753	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4942754	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4942757	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607954	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7329629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7988534	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7989671	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7993868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995410	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9534969	0.84[ASN][1000 genomes]
rs9534978	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9534979	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9534983	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9534988	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3327569	chr13:48743550-48798094	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1043294	chr13:48762477-48810028	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv1031	chr13:48766510-48790172	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7994141	SERP2	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48764800-48774600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr13:48769400-48775400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr13:48772400-48774400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr13:48773000-48774600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr13:48773000-48774600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:48773000-48774600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:48773000-48775000	Enhancers	HepG2	liver
8	chr13:48773200-48774600	Enhancers	Primary hematopoietic stem cells	blood
9	chr13:48773600-48774400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr13:48773600-48774400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr13:48773600-48774400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr13:48773600-48774400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr13:48773600-48775800	Enhancers	Fetal Intestine Large	intestine
14	chr13:48773600-48775800	Enhancers	Fetal Intestine Small	intestine
15	chr13:48773600-48775800	Enhancers	Stomach Mucosa	stomach
16	chr13:48774000-48774400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr13:48774200-48775600	Enhancers	Gastric	stomach

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