Variant report

Variant	rs28362578
Chromosome Location	chr8:57906574-57906575
allele	A/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	BACH1	chr8:57905485-57907050	H1-hESC	embryonic stem cell:	n/a	n/a
2	NR2C2	chr8:57905556-57906676	Hela-S3	cervix:	n/a	chr8:57906420-57906435
3	TAF1	chr8:57906204-57906741	SK-N-SH	brain:	n/a	n/a
4	TAF1	chr8:57906238-57906710	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr8:57906223-57906674	A549	lung:	n/a	n/a
6	MAX	chr8:57905382-57907110	Hela-S3	cervix:	n/a	n/a
7	MYC	chr8:57905491-57906639	MCF-7	breast:	n/a	n/a
8	EGR1	chr8:57906048-57907075	HCT-116	colon:	n/a	chr8:57906433-57906446 chr8:57906798-57906807 chr8:57906434-57906445 chr8:57906864-57906871 chr8:57906436-57906445 chr8:57906435-57906445 chr8:57906433-57906447 chr8:57906435-57906445
9	JUND	chr8:57906217-57906652	A549	lung:	n/a	chr8:57906259-57906268 chr8:57906333-57906342
10	MAX	chr8:57906212-57906585	NB4	blood:	n/a	n/a
11	EGR1	chr8:57906271-57906650	H1-hESC	embryonic stem cell:	n/a	chr8:57906433-57906446 chr8:57906434-57906445 chr8:57906436-57906445 chr8:57906435-57906445 chr8:57906433-57906447 chr8:57906435-57906445
12	SIN3AK20	chr8:57906233-57906925	PFSK-1	brain:	n/a	n/a
13	STAT3	chr8:57906403-57907678	MCF10A-Er-Src	breast:	n/a	chr8:57906583-57906592 chr8:57906584-57906593 chr8:57906581-57906595
14	TBP	chr8:57906240-57906776	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr8:57906234-57906616	K562	blood:	n/a	n/a
16	EGR1	chr8:57906212-57907045	HCT-116	colon:	n/a	chr8:57906433-57906446 chr8:57906798-57906807 chr8:57906434-57906445 chr8:57906864-57906871 chr8:57906436-57906445 chr8:57906435-57906445 chr8:57906433-57906447 chr8:57906435-57906445
17	MAX	chr8:57905377-57906717	K562	blood:	n/a	n/a
18	POLR2A	chr8:57905255-57906979	IMR90	lung:	n/a	n/a
19	POLR2A	chr8:57905909-57906849	H1-hESC	embryonic stem cell:	n/a	n/a
20	PAX5	chr8:57905880-57906589	GM12892	blood:	n/a	n/a
21	REST	chr8:57906261-57906656	HepG2	liver:	n/a	chr8:57906266-57906279
22	ELF1	chr8:57906077-57906809	MCF-7	breast:	n/a	n/a
23	POLR2A	chr8:57906246-57906609	K562	blood:	n/a	n/a
24	POLR2A	chr8:57906218-57906682	HL-60	blood:	n/a	n/a
25	EP300	chr8:57906086-57906743	ECC-1	luminal epithelium:	n/a	chr8:57906156-57906172 chr8:57906260-57906276 chr8:57906267-57906283
26	TAF1	chr8:57906479-57906945	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr8:57905786-57906886	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr8:57905409-57907614	MCF10A-Er-Src	breast:	n/a	n/a
29	CEBPB	chr8:57906275-57906900	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr8:57906236-57906811	HCT-116	colon:	n/a	n/a
31	POLR2A	chr8:57905533-57906892	A549	lung:	n/a	n/a
32	TBP	chr8:57906347-57907117	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr8:57905577-57906824	ProgFib	skin:	n/a	n/a
34	MAX	chr8:57905337-57906791	HepG2	liver:	n/a	n/a
35	ELF1	chr8:57906210-57906626	HepG2	liver:	n/a	n/a
36	POLR2A	chr8:57906234-57906839	SK-N-MC	brain:	n/a	n/a
37	TBL1XR1	chr8:57906284-57906642	GM12878	blood:	n/a	n/a
38	HEY1	chr8:57906501-57906723	HepG2	liver:	n/a	n/a
39	POLR2A	chr8:57906148-57906978	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr8:57905357-57906935	HepG2	liver:	n/a	n/a
41	MXI1	chr8:57906300-57906794	K562	blood:	n/a	n/a
42	MXI1	chr8:57905643-57906686	GM12878	blood:	n/a	n/a
43	GABPA	chr8:57906209-57906660	A549	lung:	n/a	chr8:57906337-57906346
44	POLR2A	chr8:57906219-57906772	HUVEC	blood vessel:	n/a	n/a
45	EGR1	chr8:57906193-57906700	ECC-1	luminal epithelium:	n/a	chr8:57906433-57906446 chr8:57906434-57906445 chr8:57906436-57906445 chr8:57906435-57906445 chr8:57906433-57906447 chr8:57906435-57906445
46	POLR2A	chr8:57906032-57906978	U87	brain:	n/a	n/a
47	POLR2A	chr8:57906222-57906774	H1-hESC	embryonic stem cell:	n/a	n/a
48	IRF1	chr8:57906262-57906814	K562	blood:	n/a	n/a
49	POLR2A	chr8:57905449-57907078	PBDE	blood:	n/a	n/a
50	POLR2A	chr8:57905288-57906809	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:57906543-57906593	NH-A	brain:	n/a
2	chr8:57906543-57906593	NHBE	bronchial:	n/a
3	chr8:57906543-57906593	GM12892	blood:	n/a
4	chr8:57906543-57906593	SK-N-MC	brain:	n/a
5	chr8:57906543-57906593	ovcar-3	ovarian:	n/a
6	chr8:57906543-57906593	Hepatocyte	liver:	n/a
7	chr8:57906543-57906593	U87	brain:	n/a
8	chr8:57906543-57906593	AG04450	lung:	fetal
9	chr8:57906543-57906593	NB4	blood:	n/a
10	chr8:57906543-57906593	IMR90	lung:	fetal
11	chr8:57906543-57906593	HRE	kidney:	n/a
12	chr8:57906543-57906593	NT2-D1	testis:	n/a
13	chr8:57906543-57906593	SAEC	small airway:	n/a
14	chr8:57906543-57906593	Jurkat	blood:	n/a
15	chr8:57906543-57906593	PANC-1	pancreas:	n/a
16	chr8:57906543-57906593	CMK	blood:	n/a
17	chr8:57906543-57906593	AG10803	skin:	n/a
18	chr8:57906543-57906593	BE2_C	brain:	n/a
19	chr8:57906543-57906593	MCF10A-Er-Src	breast:	n/a
20	chr8:57906543-57906593	PrEC	prostate:	n/a
21	chr8:57906543-57906593	SKMC	muscle:	n/a
22	chr8:57906543-57906593	RPTEC	kidney:	n/a
23	chr8:57906543-57906593	LNCaP	prostate:	n/a
24	chr8:57906543-57906593	MCF-7	breast:	n/a
25	chr8:57906543-57906593	SK-N-SH	brain:	n/a
26	chr8:57906543-57906593	HCPEpiC	choroid plexus:	n/a
27	chr8:57906543-57906593	NHDF-neo	bronchial:	n/a
28	chr8:57906543-57906593	HAEpiC	amniotic membrane:	n/a
29	chr8:57906543-57906593	Caco-2	colon:	n/a
30	chr8:57906543-57906593	ProgFib	skin:	n/a
31	chr8:57906543-57906593	HepG2	liver:	n/a
32	chr8:57906543-57906593	GM12878	blood:	n/a
33	chr8:57906543-57906593	HNPCEpiC	eye:	n/a
34	chr8:57906543-57906593	ECC-1	luminal epithelium:	n/a
35	chr8:57906543-57906593	GM06990	blood:	n/a
36	chr8:57906543-57906593	HCF	heart:	n/a
37	chr8:57906543-57906593	HMEC	breast:	n/a
38	chr8:57906543-57906593	HIPEpiC	eye:	n/a
39	chr8:57906543-57906593	HRPEpiC	eye:	n/a
40	chr8:57906543-57906593	HRCEpiC	kidney:	n/a
41	chr8:57906543-57906593	A549	lung:	n/a
42	chr8:57906543-57906593	HEEpiC	esophagus:	n/a
43	chr8:57906543-57906593	K562	blood:	n/a
44	chr8:57906543-57906593	HCT-116	colon:	n/a
45	chr8:57906543-57906593	Hela-S3	cervix:	n/a
46	chr8:57906543-57906593	BJ	skin:	n/a
47	chr8:57906543-57906593	AG09319	gingival:	n/a
48	chr8:57906543-57906593	H1-hESC	embryonic stem cell:	embryo
49	chr8:57906543-57906593	HCM	heart:	n/a
50	chr8:57906543-57906593	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:57891643..57894816-chr8:57903794..57907010,5	K562	blood:
2	chr8:57892210..57896083-chr8:57903794..57907547,6	K562	blood:
3	chr8:57891263..57893548-chr8:57905444..57907032,2	MCF-7	breast:

Variant related genes	Relation type
IMPAD1	TF binding region
IMPAD1	CpG island
ENSG00000104331	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10003	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1044731	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1057409	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11784432	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11995249	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12056416	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12546457	0.81[AMR][1000 genomes]
rs16921401	0.81[AMR][1000 genomes]
rs16921404	0.81[AMR][1000 genomes]
rs16921483	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16921485	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2873556	0.81[ASN][1000 genomes]
rs4570152	0.81[AMR][1000 genomes]
rs55744759	0.81[ASN][1000 genomes]
rs55820553	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56264228	0.81[AMR][1000 genomes]
rs57357857	0.81[AMR][1000 genomes]
rs6994212	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72647042	0.81[AMR][1000 genomes]
rs72647043	0.81[AMR][1000 genomes]
rs72647049	0.81[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	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1027125	chr8:57891279-58095884	Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3436028	chr8:57905223-57907771	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57901800-57907200	Active TSS	GM12878-XiMat	blood
2	chr8:57903200-57907000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:57903400-57907200	Active TSS	Psoas Muscle	Psoas
4	chr8:57903600-57906800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:57903600-57907200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:57903600-57907200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:57903800-57907200	Active TSS	NHDF-Ad	bronchial
8	chr8:57904000-57906600	Active TSS	K562	blood
9	chr8:57904000-57907000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:57904000-57907000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:57904000-57907200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:57904000-57907400	Active TSS	HMEC	breast
13	chr8:57904200-57907200	Active TSS	Right Atrium	heart
14	chr8:57904200-57907400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr8:57904400-57906800	Active TSS	Brain Angular Gyrus	brain
16	chr8:57904400-57907200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr8:57904400-57907200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:57904400-57907200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:57904400-57907200	Active TSS	HSMMtube	muscle
20	chr8:57904400-57907400	Active TSS	NHLF	lung
21	chr8:57904600-57906800	Active TSS	Fetal Muscle Leg	muscle
22	chr8:57904600-57907000	Active TSS	Placenta	Placenta
23	chr8:57904600-57907000	Active TSS	Fetal Stomach	stomach
24	chr8:57904600-57907200	Active TSS	Ovary	ovary
25	chr8:57904600-57907200	Active TSS	Right Ventricle	heart
26	chr8:57904600-57907200	Active TSS	Thymus	Thymus
27	chr8:57904600-57907200	Active TSS	HSMM	muscle
28	chr8:57904800-57906600	Active TSS	Fetal Thymus	thymus
29	chr8:57904800-57907000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:57904800-57907000	Active TSS	Brain Germinal Matrix	brain
31	chr8:57904800-57907000	Active TSS	A549	lung
32	chr8:57904800-57907000	Active TSS	Hela-S3	cervix
33	chr8:57904800-57907200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:57904800-57907200	Active TSS	Colonic Mucosa	Colon
35	chr8:57904800-57907200	Active TSS	NHEK	skin
36	chr8:57904800-57907400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr8:57905000-57906600	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr8:57905000-57906600	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr8:57905000-57906800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:57905000-57906800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:57905000-57906800	Active TSS	Brain Substantia Nigra	brain
42	chr8:57905000-57906800	Active TSS	Fetal Brain Male	brain
43	chr8:57905000-57906800	Active TSS	Fetal Brain Female	brain
44	chr8:57905000-57906800	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr8:57905000-57906800	Active TSS	HUVEC	blood vessel
46	chr8:57905000-57906800	Active TSS	NH-A	brain
47	chr8:57905000-57906800	Active TSS	Osteobl	bone
48	chr8:57905000-57907000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:57905000-57907000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr8:57905000-57907000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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