Variant report

Variant	rs13007094
Chromosome Location	chr2:231171194-231171195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10933330	1.00[ASN][1000 genomes]
rs12694846	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13023767	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396743	1.00[ASN][1000 genomes]
rs34004493	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35256947	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191195	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191198	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62192163	1.00[ASN][1000 genomes]
rs6710297	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755306	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890581	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933957	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3417154	chr2:231159789-231258938	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3348338	chr2:231160124-231259498	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv875944	chr2:231162998-231189047	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13007094	SP140	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231147800-231182400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:231153800-231183400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:231161600-231173800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:231162600-231180800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:231164400-231174400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:231165200-231174200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:231165400-231171400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:231165400-231171400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:231165400-231180200	Weak transcription	Primary T cells from cord blood	blood
10	chr2:231165400-231181600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:231165800-231181000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:231166200-231174400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:231169000-231174800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:231169400-231171600	Weak transcription	Primary B cells from cord blood	blood
15	chr2:231170000-231171400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:231170000-231172000	ZNF genes & repeats	Spleen	Spleen
17	chr2:231170000-231175400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:231170200-231175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:231171000-231172400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr2:231171000-231172400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:231171000-231174800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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