Variant report

Variant	rs3808542
Chromosome Location	chr8:103874924-103874925
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:137)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:137 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr8:103874891-103875709	A549	lung:	n/a	n/a
2	ATF2	chr8:103874859-103875685	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:103874545-103875750	HCT-116	colon:	n/a	n/a
4	POLR2A	chr8:103874744-103875851	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUND	chr8:103874897-103875840	MCF-7	breast:	n/a	chr8:103875562-103875571 chr8:103875245-103875256 chr8:103875558-103875567
6	TEAD4	chr8:103874310-103875697	K562	blood:	n/a	n/a
7	TAF1	chr8:103874894-103875593	PFSK-1	brain:	n/a	n/a
8	MAX	chr8:103874818-103875623	HepG2	liver:	n/a	n/a
9	MTA3	chr8:103874856-103875579	GM12878	blood:	n/a	n/a
10	RELA	chr8:103874902-103875745	GM12891	blood:	n/a	n/a
11	TBP	chr8:103874663-103877597	K562	blood:	n/a	n/a
12	MTA3	chr8:103874671-103875666	GM12878	blood:	n/a	n/a
13	TCF7L2	chr8:103874532-103875569	PANC-1	pancreas:	n/a	chr8:103874845-103874859 chr8:103874868-103874882
14	MAFF	chr8:103874699-103875368	K562	blood:	n/a	n/a
15	GATA1	chr8:103874356-103875744	PBDE	blood:	n/a	n/a
16	CTCF	chr8:103874160-103875863	A549	lung:	n/a	chr8:103875705-103875723 chr8:103875428-103875437
17	ATF2	chr8:103874865-103875574	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr8:103874486-103875814	H1-hESC	embryonic stem cell:	n/a	n/a
19	FOS	chr8:103874821-103875570	HUVEC	blood vessel:	n/a	chr8:103875558-103875567
20	RAD21	chr8:103874872-103875826	HCT-116	colon:	n/a	chr8:103875632-103875645
21	POLR2A	chr8:103874368-103875732	HepG2	liver:	n/a	n/a
22	POLR2A	chr8:103874620-103875833	GM12892	blood:	n/a	n/a
23	MAX	chr8:103874636-103877375	MCF-7	breast:	n/a	chr8:103876711-103876721 chr8:103876030-103876039 chr8:103877043-103877052
24	POLR2A	chr8:103874704-103877138	PFSK-1	brain:	n/a	n/a
25	MAZ	chr8:103874644-103877775	IMR90	lung:	n/a	chr8:103876711-103876721 chr8:103876030-103876039 chr8:103877043-103877052
26	MYC	chr8:103874592-103875808	A549	lung:	n/a	n/a
27	TBL1XR1	chr8:103874800-103875587	K562	blood:	n/a	n/a
28	SIN3AK20	chr8:103874449-103878043	MCF-7	breast:	n/a	n/a
29	CTCF	chr8:103874800-103874950	A549	lung:	n/a	n/a
30	FOSL2	chr8:103874781-103875647	A549	lung:	n/a	chr8:103875562-103875571 chr8:103875558-103875567
31	TCF7L2	chr8:103874497-103875408	HEK293	kidney:	n/a	chr8:103874845-103874859 chr8:103874868-103874882
32	POLR2A	chr8:103874833-103875907	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr8:103874678-103877252	Hela-S3	cervix:	n/a	n/a
34	SRF	chr8:103874647-103875753	MCF-7	breast:	n/a	chr8:103875627-103875637 chr8:103875647-103875657
35	POLR2A	chr8:103874793-103875834	U87	brain:	n/a	n/a
36	SIN3AK20	chr8:103874750-103875819	MCF-7	breast:	n/a	n/a
37	POLR2A	chr8:103874707-103875842	PANC-1	pancreas:	n/a	n/a
38	SIN3AK20	chr8:103874853-103877054	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr8:103874876-103875725	GM12891	blood:	n/a	n/a
40	SIN3A	chr8:103874764-103875689	GM12878	blood:	n/a	n/a
41	MAX	chr8:103874753-103875732	MCF-7	breast:	n/a	n/a
42	POLR2A	chr8:103874786-103875755	GM12892	blood:	n/a	n/a
43	HDAC2	chr8:103874806-103875704	MCF-7	breast:	n/a	n/a
44	PML	chr8:103874845-103875752	GM12878	blood:	n/a	n/a
45	FOSL2	chr8:103874879-103875589	MCF-7	breast:	n/a	chr8:103875562-103875571 chr8:103875558-103875567
46	POLR2A	chr8:103874637-103875553	A549	lung:	n/a	n/a
47	RFX5	chr8:103874126-103875813	SK-N-SH	brain:	n/a	chr8:103875205-103875220 chr8:103875237-103875252
48	POLR2A	chr8:103874824-103877672	K562	blood:	n/a	n/a
49	POLR2A	chr8:103874917-103877650	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr8:103874500-103875742	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
2	chr8:103613879..103615577-chr8:103873601..103875436,2	MCF-7	breast:
3	chr8:103249660..103252444-chr8:103873911..103876787,3	K562	blood:
4	chr8:103422749..103426860-chr8:103874401..103878662,6	MCF-7	breast:
5	chr8:103818013..103820619-chr8:103873753..103877719,3	K562	blood:
6	chr8:103874816..103877664-chr8:103936329..103938732,4	MCF-7	breast:
7	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
8	chr8:103864345..103865888-chr8:103874121..103876056,2	MCF-7	breast:
9	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:
10	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
11	chr8:103838838..103843529-chr8:103874630..103876913,6	K562	blood:
12	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
13	chr8:103873381..103878542-chr8:103897806..103904719,11	MCF-7	breast:
14	chr8:103874643..103878099-chr8:104031324..104040310,20	MCF-7	breast:
15	chr8:103845834..103848261-chr8:103873749..103875544,2	MCF-7	breast:
16	chr8:103666126..103668691-chr8:103874120..103876148,4	MCF-7	breast:
17	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:
18	chr8:103874799..103876980-chr8:104425955..104427549,2	MCF-7	breast:
19	chr8:103839572..103843466-chr8:103874674..103877109,4	K562	blood:
20	chr8:103874529..103876453-chr8:103970493..103973590,3	K562	blood:
21	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
22	chr8:103845726..103848177-chr8:103872999..103876884,3	K562	blood:
23	chr8:103873561..103877987-chr8:104030387..104035295,15	K562	blood:
24	chr8:103874632..103878836-chr8:104074842..104078968,5	MCF-7	breast:
25	chr8:103421430..103426226-chr8:103872960..103876390,5	K562	blood:
26	chr8:103666551..103669632-chr8:103873253..103876487,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253320	TF binding region
AZIN1	TF binding region
ENSG00000254236	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000253263	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000244052	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000265898	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1062365	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3758091	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60470921	1.00[EUR][1000 genomes]
rs72667203	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667204	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667206	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667212	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667217	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667221	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667222	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667223	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667224	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667225	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667226	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667231	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667244	0.89[EUR][1000 genomes]
rs72667245	0.82[EUR][1000 genomes]
rs72686912	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72686914	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72686917	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72686930	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686931	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686932	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686935	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv3445834	chr8:103874576-103877824	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3808542	AZIN1	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103872400-103877200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr8:103872800-103878000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr8:103873000-103876800	Active TSS	Placenta	Placenta
4	chr8:103873000-103877600	Active TSS	GM12878-XiMat	blood
5	chr8:103873000-103877800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr8:103873200-103877400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:103873200-103877400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:103873200-103877400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:103873400-103877200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:103873400-103877200	Active TSS	Pancreas	Pancrea
11	chr8:103873400-103877400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr8:103873400-103877400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:103873400-103877600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:103873600-103875000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr8:103873600-103876200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:103873600-103877800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:103873800-103875200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
18	chr8:103873800-103875400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:103873800-103877000	Active TSS	HMEC	breast
20	chr8:103873800-103877400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:103873800-103877600	Active TSS	HSMM	muscle
22	chr8:103873800-103877800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr8:103874000-103875000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:103874000-103875000	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr8:103874000-103875600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:103874000-103877600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:103874200-103875000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:103874200-103875000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:103874200-103875000	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr8:103874200-103875000	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr8:103874200-103875000	Enhancers	Spleen	Spleen
32	chr8:103874200-103875000	Flanking Active TSS	Hela-S3	cervix
33	chr8:103874200-103875200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:103874200-103875200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr8:103874200-103875200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr8:103874200-103875200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:103874200-103875200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr8:103874200-103875200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:103874200-103875200	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr8:103874200-103875200	Flanking Active TSS	HUVEC	blood vessel
41	chr8:103874200-103875200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr8:103874200-103876800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr8:103874200-103877400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:103874200-103877400	Active TSS	Right Ventricle	heart
45	chr8:103874200-103877400	Active TSS	NHDF-Ad	bronchial
46	chr8:103874200-103877800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr8:103874200-103877800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:103874400-103875000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
49	chr8:103874400-103875000	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr8:103874400-103875000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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