Variant report

Variant	rs538719308
Chromosome Location	chr8:57906609-57906610
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	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	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
11	SIN3AK20	chr8:57906233-57906925	PFSK-1	brain:	n/a	n/a
12	STAT3	chr8:57906403-57907678	MCF10A-Er-Src	breast:	n/a	chr8:57906583-57906592 chr8:57906584-57906593 chr8:57906581-57906595
13	TBP	chr8:57906240-57906776	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr8:57906234-57906616	K562	blood:	n/a	n/a
15	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
16	MAX	chr8:57905377-57906717	K562	blood:	n/a	n/a
17	POLR2A	chr8:57905255-57906979	IMR90	lung:	n/a	n/a
18	POLR2A	chr8:57905909-57906849	H1-hESC	embryonic stem cell:	n/a	n/a
19	REST	chr8:57906261-57906656	HepG2	liver:	n/a	chr8:57906266-57906279
20	ELF1	chr8:57906077-57906809	MCF-7	breast:	n/a	n/a
21	POLR2A	chr8:57906246-57906609	K562	blood:	n/a	n/a
22	POLR2A	chr8:57906218-57906682	HL-60	blood:	n/a	n/a
23	EP300	chr8:57906086-57906743	ECC-1	luminal epithelium:	n/a	chr8:57906156-57906172 chr8:57906260-57906276 chr8:57906267-57906283
24	TAF1	chr8:57906479-57906945	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr8:57905786-57906886	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr8:57905409-57907614	MCF10A-Er-Src	breast:	n/a	n/a
27	CEBPB	chr8:57906275-57906900	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr8:57906236-57906811	HCT-116	colon:	n/a	n/a
29	POLR2A	chr8:57905533-57906892	A549	lung:	n/a	n/a
30	TBP	chr8:57906347-57907117	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr8:57905577-57906824	ProgFib	skin:	n/a	n/a
32	MAX	chr8:57905337-57906791	HepG2	liver:	n/a	n/a
33	ELF1	chr8:57906210-57906626	HepG2	liver:	n/a	n/a
34	POLR2A	chr8:57906234-57906839	SK-N-MC	brain:	n/a	n/a
35	TBL1XR1	chr8:57906284-57906642	GM12878	blood:	n/a	n/a
36	HEY1	chr8:57906501-57906723	HepG2	liver:	n/a	n/a
37	POLR2A	chr8:57906148-57906978	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr8:57905357-57906935	HepG2	liver:	n/a	n/a
39	MXI1	chr8:57906300-57906794	K562	blood:	n/a	n/a
40	MXI1	chr8:57905643-57906686	GM12878	blood:	n/a	n/a
41	GABPA	chr8:57906209-57906660	A549	lung:	n/a	chr8:57906337-57906346
42	POLR2A	chr8:57906219-57906772	HUVEC	blood vessel:	n/a	n/a
43	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
44	POLR2A	chr8:57906032-57906978	U87	brain:	n/a	n/a
45	POLR2A	chr8:57906222-57906774	H1-hESC	embryonic stem cell:	n/a	n/a
46	IRF1	chr8:57906262-57906814	K562	blood:	n/a	n/a
47	POLR2A	chr8:57905449-57907078	PBDE	blood:	n/a	n/a
48	POLR2A	chr8:57905288-57906809	K562	blood:	n/a	n/a
49	POLR2A	chr8:57905436-57906704	GM18951	blood:	n/a	n/a
50	YY1	chr8:57906211-57906612	ECC-1	luminal epithelium:	n/a	chr8:57906263-57906274

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:57906609-57906659	SAEC	small airway:	n/a
2	chr8:57906609-57906659	HepG2	liver:	n/a
3	chr8:57906609-57906659	HRCEpiC	kidney:	n/a
4	chr8:57906609-57906659	NH-A	brain:	n/a
5	chr8:57906609-57906659	BE2_C	brain:	n/a
6	chr8:57906609-57906659	NT2-D1	testis:	n/a
7	chr8:57906609-57906659	SKMC	muscle:	n/a
8	chr8:57906609-57906659	HAEpiC	amniotic membrane:	n/a
9	chr8:57906609-57906659	HUVEC	blood vessel:	n/a
10	chr8:57906609-57906659	AG09309	skin:	n/a
11	chr8:57906609-57906659	AG09319	gingival:	n/a
12	chr8:57906609-57906659	GM19239	blood:	n/a
13	chr8:57906609-57906659	H1-hESC	embryonic stem cell:	embryo
14	chr8:57906609-57906659	HCF	heart:	n/a
15	chr8:57906609-57906659	SK-N-SH_RA	brain:	n/a
16	chr8:57906609-57906659	HIPEpiC	eye:	n/a
17	chr8:57906609-57906659	HCM	heart:	n/a
18	chr8:57906609-57906659	HCT-116	colon:	n/a
19	chr8:57906609-57906659	ovcar-3	ovarian:	n/a
20	chr8:57906609-57906659	PANC-1	pancreas:	n/a
21	chr8:57906609-57906659	GM12891	blood:	n/a
22	chr8:57906609-57906659	HCPEpiC	choroid plexus:	n/a
23	chr8:57906609-57906659	HEEpiC	esophagus:	n/a
24	chr8:57906609-57906659	K562	blood:	n/a
25	chr8:57906609-57906659	NHDF-neo	bronchial:	n/a
26	chr8:57906609-57906659	HEK293	kidney:	embryo
27	chr8:57906609-57906659	AG04449	skin:	fetal
28	chr8:57906609-57906659	NB4	blood:	n/a
29	chr8:57906609-57906659	HNPCEpiC	eye:	n/a
30	chr8:57906609-57906659	AG04450	lung:	fetal
31	chr8:57906609-57906659	HRE	kidney:	n/a
32	chr8:57906609-57906659	NHBE	bronchial:	n/a
33	chr8:57906609-57906659	CMK	blood:	n/a
34	chr8:57906609-57906659	AG10803	skin:	n/a
35	chr8:57906609-57906659	ECC-1	luminal epithelium:	n/a
36	chr8:57906609-57906659	MCF-7	breast:	n/a
37	chr8:57906609-57906659	SK-N-SH	brain:	n/a
38	chr8:57906609-57906659	Caco-2	colon:	n/a
39	chr8:57906609-57906659	ProgFib	skin:	n/a
40	chr8:57906609-57906659	U87	brain:	n/a
41	chr8:57906609-57906659	BJ	skin:	n/a
42	chr8:57906609-57906659	Jurkat	blood:	n/a
43	chr8:57906609-57906659	HRPEpiC	eye:	n/a
44	chr8:57906609-57906659	T-47D	breast:	n/a
45	chr8:57906609-57906659	HPAEpiC	pulmonary alveolar:	n/a
46	chr8:57906609-57906659	LNCaP	prostate:	n/a
47	chr8:57906609-57906659	GM12878	blood:	n/a
48	chr8:57906609-57906659	PrEC	prostate:	n/a
49	chr8:57906609-57906659	AoSMC	blood vessel:	n/a
50	chr8:57906609-57906659	MCF10A-Er-Src	breast:	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: 4 )
Associated
traits (count: 0)

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	chr8:57904000-57907000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:57904000-57907000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:57904000-57907200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:57904000-57907400	Active TSS	HMEC	breast
12	chr8:57904200-57907200	Active TSS	Right Atrium	heart
13	chr8:57904200-57907400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr8:57904400-57906800	Active TSS	Brain Angular Gyrus	brain
15	chr8:57904400-57907200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr8:57904400-57907200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr8:57904400-57907200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:57904400-57907200	Active TSS	HSMMtube	muscle
19	chr8:57904400-57907400	Active TSS	NHLF	lung
20	chr8:57904600-57906800	Active TSS	Fetal Muscle Leg	muscle
21	chr8:57904600-57907000	Active TSS	Placenta	Placenta
22	chr8:57904600-57907000	Active TSS	Fetal Stomach	stomach
23	chr8:57904600-57907200	Active TSS	Ovary	ovary
24	chr8:57904600-57907200	Active TSS	Right Ventricle	heart
25	chr8:57904600-57907200	Active TSS	Thymus	Thymus
26	chr8:57904600-57907200	Active TSS	HSMM	muscle
27	chr8:57904800-57907000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:57904800-57907000	Active TSS	Brain Germinal Matrix	brain
29	chr8:57904800-57907000	Active TSS	A549	lung
30	chr8:57904800-57907000	Active TSS	Hela-S3	cervix
31	chr8:57904800-57907200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:57904800-57907200	Active TSS	Colonic Mucosa	Colon
33	chr8:57904800-57907200	Active TSS	NHEK	skin
34	chr8:57904800-57907400	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr8:57905000-57906800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:57905000-57906800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:57905000-57906800	Active TSS	Brain Substantia Nigra	brain
38	chr8:57905000-57906800	Active TSS	Fetal Brain Male	brain
39	chr8:57905000-57906800	Active TSS	Fetal Brain Female	brain
40	chr8:57905000-57906800	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr8:57905000-57906800	Active TSS	HUVEC	blood vessel
42	chr8:57905000-57906800	Active TSS	NH-A	brain
43	chr8:57905000-57906800	Active TSS	Osteobl	bone
44	chr8:57905000-57907000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:57905000-57907000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr8:57905000-57907000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:57905000-57907000	Active TSS	Muscle Satellite Cultured Cells	--
48	chr8:57905000-57907000	Active TSS	Liver	Liver
49	chr8:57905000-57907000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr8:57905000-57907000	Active TSS	Fetal Lung	lung

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