Variant report

Variant	rs62376391
Chromosome Location	chr5:96146448-96146449
allele	A/C
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	EP300	chr5:96146335-96146701	SK-N-SH_RA	brain:	n/a	chr5:96146509-96146523
2	GATA3	chr5:96146445-96146661	SH-SY5Y	brain:	n/a	n/a
3	EP300	chr5:96146337-96146707	SK-N-SH_RA	brain:	n/a	chr5:96146509-96146523

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96145939..96148077-chr5:96193066..96195482,2	K562	blood:

Variant related genes	Relation type
ERAP1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs41506651	1.00[ASN][1000 genomes]
rs56414182	1.00[ASN][1000 genomes]
rs61745685	0.91[EUR][1000 genomes]
rs62364748	0.91[EUR][1000 genomes]
rs62364750	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62364751	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62364752	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62364753	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376386	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376389	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376392	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376414	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376415	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376416	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376418	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376419	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376420	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376449	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv432756	chr5:96113844-96234644	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62376391	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL
rs62376391	ERAP1	cis	brain	BrainEAC

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96144400-96147600	Enhancers	Fetal Thymus	thymus
2	chr5:96144400-96151600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:96144400-96152000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:96144600-96146800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:96144600-96147400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr5:96144600-96147600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr5:96144600-96148400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:96144600-96148600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr5:96144600-96151200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:96144600-96151800	Enhancers	Primary T cells from cord blood	blood
11	chr5:96144600-96151800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:96144600-96152200	Weak transcription	Colonic Mucosa	Colon
13	chr5:96144600-96152800	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:96144600-96152800	Weak transcription	Osteobl	bone
15	chr5:96144600-96156600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:96144800-96147200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:96144800-96147200	Weak transcription	HepG2	liver
18	chr5:96144800-96149800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:96144800-96149800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:96144800-96149800	Weak transcription	Fetal Intestine Large	intestine
21	chr5:96144800-96149800	Weak transcription	Fetal Intestine Small	intestine
22	chr5:96144800-96151600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr5:96144800-96151600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:96144800-96152200	Weak transcription	Placenta	Placenta
25	chr5:96145200-96148600	Weak transcription	Dnd41	blood
26	chr5:96145600-96151800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr5:96145800-96147600	Enhancers	Thymus	Thymus
28	chr5:96145800-96147800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr5:96146000-96147200	Weak transcription	K562	blood
30	chr5:96146200-96147000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:96146200-96147200	Enhancers	Brain Germinal Matrix	brain
32	chr5:96146200-96148600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:96146200-96151800	Enhancers	Primary T helper cells PMA-I stimulated	--

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