Variant report

Variant	rs62191195
Chromosome Location	chr2:231129794-231129795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr2:231129773-231130072	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SP140	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10933330	1.00[ASN][1000 genomes]
rs12694846	0.89[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]
rs62191198	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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933957	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
rs62191195	SP140	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 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	chr2:231120600-231134200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:231122800-231129800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:231125400-231136800	Strong transcription	Primary B cells from cord blood	blood
6	chr2:231127200-231130000	Weak transcription	GM12878-XiMat	blood
7	chr2:231127400-231129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:231127600-231130200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:231127800-231135400	Weak transcription	Primary T cells from cord blood	blood
10	chr2:231128000-231131000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:231128200-231130000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:231128200-231135600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:231128200-231166000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:231128600-231133800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:231128600-231134000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:231128600-231134200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:231128600-231134800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:231129000-231135000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:231129200-231130200	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr2:231129400-231130400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:231129400-231131400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:231129400-231131600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:231129400-231137200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:231129600-231130200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:231129600-231130200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:231129600-231130400	Enhancers	HMEC	breast
27	chr2:231129600-231130400	Enhancers	NHEK	skin
28	chr2:231129600-231131600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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