Variant report

Variant	rs62191198
Chromosome Location	chr2:231141196-231141197
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10933330	1.00[ASN][1000 genomes]
rs12694846	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13007094	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023767	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396742	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396743	1.00[ASN][1000 genomes]
rs34004493	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35256947	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191195	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62192163	1.00[ASN][1000 genomes]
rs6710297	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755306	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890581	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933957	1.00[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62191198	SP140	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231090200-231170000	Weak transcription	Spleen	Spleen
2	chr2:231119200-231141200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:231128200-231166000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:231133600-231150200	Weak transcription	Left Ventricle	heart
5	chr2:231135000-231144000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:231136400-231158400	Weak transcription	Primary T cells from cord blood	blood
7	chr2:231136600-231150000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:231136600-231151400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:231136600-231157600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:231136800-231151800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:231137000-231151000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:231137200-231149800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:231137200-231150200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:231137400-231150000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:231137600-231151200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:231138200-231148200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:231140200-231141200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:231140600-231149800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:231140800-231143600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:231140800-231145000	Strong transcription	Primary B cells from cord blood	blood

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