Variant report

Variant	rs62376389
Chromosome Location	chr5:96144773-96144774
allele	A/G
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	POLR2A	chr5:96142785-96144905	K562	blood:	n/a	n/a
2	NFYA	chr5:96143694-96144908	K562	blood:	n/a	n/a
3	BRCA1	chr5:96144614-96144795	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:96142684-96144779	GM12891	blood:	n/a	n/a
5	IRF1	chr5:96142807-96144846	K562	blood:	n/a	chr5:96143633-96143647 chr5:96143635-96143648 chr5:96143637-96143651 chr5:96143637-96143647 chr5:96143638-96143649 chr5:96143635-96143648 chr5:96143635-96143649 chr5:96143631-96143652 chr5:96143634-96143648 chr5:96143635-96143648 chr5:96143637-96143648 chr5:96143634-96143651 chr5:96143636-96143653 chr5:96143629-96143649
6	IRF1	chr5:96143168-96144794	K562	blood:	n/a	chr5:96143633-96143647 chr5:96143635-96143648 chr5:96143637-96143651 chr5:96143637-96143647 chr5:96143638-96143649 chr5:96143635-96143648 chr5:96143635-96143649 chr5:96143631-96143652 chr5:96143634-96143648 chr5:96143635-96143648 chr5:96143637-96143648 chr5:96143634-96143651 chr5:96143636-96143653 chr5:96143629-96143649

No.	Distal block	Cell Line	Cell type
1	chr5:96127204..96132361-chr5:96142290..96145057,7	MCF-7	breast:
2	chr5:96143815..96145603-chr5:96340222..96341890,2	K562	blood:
3	chr5:96142074..96145143-chr5:96212194..96215127,3	K562	blood:
4	chr5:96142546..96145890-chr5:96269908..96273049,5	K562	blood:
5	chr5:96141925..96145850-chr5:96265867..96272606,9	K562	blood:
6	chr5:96076665..96080894-chr5:96142161..96145119,4	K562	blood:
7	chr5:96142551..96144780-chr5:96277248..96279292,2	MCF-7	breast:
8	chr5:96078034..96080894-chr5:96142161..96145119,2	K562	blood:

Variant related genes	Relation type
ERAP1	TF binding region
ENSG00000249180	Chromatin interaction
ENSG00000153113	Chromatin interaction
ENSG00000113441	Chromatin interaction
ENSG00000227836	Chromatin interaction
ENSG00000164308	Chromatin interaction
ENSG00000164307	Chromatin interaction
ENSG00000247121	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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]
rs62376391	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376392	1.00[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62376389	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96142400-96144800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr5:96143000-96144800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:96143000-96144800	Active TSS	Colon Smooth Muscle	Colon
4	chr5:96143000-96144800	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr5:96143000-96144800	Active TSS	A549	lung
6	chr5:96144000-96144800	Flanking Active TSS	Dnd41	blood
7	chr5:96144200-96144800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:96144200-96144800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr5:96144200-96144800	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr5:96144200-96145000	Flanking Active TSS	K562	blood
11	chr5:96144400-96144800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:96144400-96144800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:96144400-96144800	Enhancers	Brain Germinal Matrix	brain
14	chr5:96144400-96144800	Weak transcription	Lung	lung
15	chr5:96144400-96145200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:96144400-96147600	Enhancers	Fetal Thymus	thymus
17	chr5:96144400-96151600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:96144400-96152000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:96144600-96144800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:96144600-96144800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:96144600-96144800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr5:96144600-96144800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:96144600-96144800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr5:96144600-96144800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:96144600-96144800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:96144600-96144800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:96144600-96144800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr5:96144600-96144800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:96144600-96144800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:96144600-96144800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:96144600-96144800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:96144600-96144800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:96144600-96144800	Enhancers	Brain Substantia Nigra	brain
34	chr5:96144600-96144800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr5:96144600-96144800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr5:96144600-96144800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr5:96144600-96144800	Enhancers	Fetal Heart	heart
38	chr5:96144600-96144800	Enhancers	Fetal Intestine Large	intestine
39	chr5:96144600-96144800	Enhancers	Fetal Intestine Small	intestine
40	chr5:96144600-96144800	Enhancers	Fetal Lung	lung
41	chr5:96144600-96144800	Enhancers	Fetal Muscle Leg	muscle
42	chr5:96144600-96144800	Enhancers	Placenta	Placenta
43	chr5:96144600-96144800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr5:96144600-96144800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr5:96144600-96144800	Enhancers	Thymus	Thymus
46	chr5:96144600-96144800	Active TSS	GM12878-XiMat	blood
47	chr5:96144600-96144800	Enhancers	Hela-S3	cervix
48	chr5:96144600-96144800	Enhancers	HepG2	liver
49	chr5:96144600-96144800	Enhancers	HMEC	breast
50	chr5:96144600-96144800	Enhancers	Monocytes-CD14+_RO01746	blood

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