Variant report

Variant	rs184760339
Chromosome Location	chr8:57906899-57906900
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	BACH1	chr8:57905485-57907050	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr8:57905382-57907110	Hela-S3	cervix:	n/a	n/a
3	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
4	EGR1	chr8:57906678-57906923	K562	blood:	n/a	chr8:57906798-57906807 chr8:57906864-57906871
5	SIN3AK20	chr8:57906233-57906925	PFSK-1	brain:	n/a	n/a
6	STAT3	chr8:57906403-57907678	MCF10A-Er-Src	breast:	n/a	chr8:57906583-57906592 chr8:57906584-57906593 chr8:57906581-57906595
7	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
8	POLR2A	chr8:57905255-57906979	IMR90	lung:	n/a	n/a
9	TAF1	chr8:57906479-57906945	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr8:57905409-57907614	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr8:57906275-57906900	Hela-S3	cervix:	n/a	n/a
12	TBP	chr8:57906347-57907117	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr8:57906148-57906978	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr8:57905357-57906935	HepG2	liver:	n/a	n/a
15	POLR2A	chr8:57906032-57906978	U87	brain:	n/a	n/a
16	POLR2A	chr8:57905449-57907078	PBDE	blood:	n/a	n/a
17	MAZ	chr8:57905014-57906930	K562	blood:	n/a	n/a
18	POLR2A	chr8:57905903-57906996	HEK293	kidney:	n/a	n/a
19	IRF1	chr8:57906269-57906998	K562	blood:	n/a	n/a
20	POLR2A	chr8:57906867-57906938	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr8:57905333-57906938	K562	blood:	n/a	n/a
22	POLR2A	chr8:57906772-57906974	Hela-S3	cervix:	n/a	n/a
23	STAT1	chr8:57905364-57907213	Hela-S3	cervix:	n/a	chr8:57906583-57906592 chr8:57906584-57906593 chr8:57906581-57906595
24	STAT3	chr8:57906416-57907381	MCF10A-Er-Src	breast:	n/a	chr8:57906583-57906592 chr8:57906584-57906593 chr8:57906581-57906595
25	MXI1	chr8:57905304-57907070	Hela-S3	cervix:	n/a	n/a
26	MAFK	chr8:57906244-57906905	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr8:57906200-57906937	K562	blood:	n/a	n/a
28	TBP	chr8:57905312-57907047	K562	blood:	n/a	n/a
29	MAX	chr8:57906097-57907123	HCT-116	colon:	n/a	n/a
30	POLR2A	chr8:57906195-57907056	U87	brain:	n/a	n/a
31	POLR2A	chr8:57906232-57907031	SK-N-SH	brain:	n/a	n/a
32	MAX	chr8:57906098-57907070	HCT-116	colon:	n/a	n/a
33	POLR2A	chr8:57906121-57907002	HUVEC	blood vessel:	n/a	n/a
34	TAF1	chr8:57906207-57907014	PFSK-1	brain:	n/a	n/a
35	MAX	chr8:57906565-57907022	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr8:57905146-57906991	K562	blood:	n/a	n/a
37	TAF1	chr8:57906208-57907000	H1-neurons	neurons:	n/a	n/a
38	MAX	chr8:57906152-57907118	A549	lung:	n/a	n/a
39	GTF2F1	chr8:57906386-57907023	Hela-S3	cervix:	n/a	n/a
40	MXI1	chr8:57904615-57907279	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr8:57905127-57907125	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr8:57905359-57907133	MCF10A-Er-Src	breast:	n/a	n/a
43	JUND	chr8:57906043-57907048	K562	blood:	n/a	chr8:57906259-57906268 chr8:57907003-57907017 chr8:57906333-57906342 chr8:57906718-57906729
44	POLR2A	chr8:57906106-57906953	HUVEC	blood vessel:	n/a	n/a
45	RCOR1	chr8:57906259-57907082	K562	blood:	n/a	n/a
46	MYC	chr8:57906581-57907220	MCF10A-Er-Src	breast:	n/a	n/a
47	MXI1	chr8:57905382-57907026	HepG2	liver:	n/a	n/a
48	MAX	chr8:57906099-57907049	MCF-7	breast:	n/a	n/a
49	RFX5	chr8:57906261-57907302	Hela-S3	cervix:	n/a	n/a
50	E2F4	chr8:57906370-57907155	MCF10A-Er-Src	breast:	n/a	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
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	chr8:57903600-57907200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr8:57903600-57907200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:57903800-57907200	Active TSS	NHDF-Ad	bronchial
7	chr8:57904000-57907000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:57904000-57907000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:57904000-57907200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:57904000-57907400	Active TSS	HMEC	breast
11	chr8:57904200-57907200	Active TSS	Right Atrium	heart
12	chr8:57904200-57907400	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr8:57904400-57907200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr8:57904400-57907200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr8:57904400-57907200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:57904400-57907200	Active TSS	HSMMtube	muscle
17	chr8:57904400-57907400	Active TSS	NHLF	lung
18	chr8:57904600-57907000	Active TSS	Placenta	Placenta
19	chr8:57904600-57907000	Active TSS	Fetal Stomach	stomach
20	chr8:57904600-57907200	Active TSS	Ovary	ovary
21	chr8:57904600-57907200	Active TSS	Right Ventricle	heart
22	chr8:57904600-57907200	Active TSS	Thymus	Thymus
23	chr8:57904600-57907200	Active TSS	HSMM	muscle
24	chr8:57904800-57907000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:57904800-57907000	Active TSS	Brain Germinal Matrix	brain
26	chr8:57904800-57907000	Active TSS	A549	lung
27	chr8:57904800-57907000	Active TSS	Hela-S3	cervix
28	chr8:57904800-57907200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:57904800-57907200	Active TSS	Colonic Mucosa	Colon
30	chr8:57904800-57907200	Active TSS	NHEK	skin
31	chr8:57904800-57907400	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr8:57905000-57907000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:57905000-57907000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr8:57905000-57907000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:57905000-57907000	Active TSS	Muscle Satellite Cultured Cells	--
36	chr8:57905000-57907000	Active TSS	Liver	Liver
37	chr8:57905000-57907000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr8:57905000-57907000	Active TSS	Fetal Lung	lung
39	chr8:57905000-57907200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:57905000-57907200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr8:57905000-57907200	Active TSS	Aorta	Aorta
42	chr8:57905000-57907200	Active TSS	Colon Smooth Muscle	Colon
43	chr8:57905000-57907200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr8:57905000-57907200	Active TSS	Fetal Intestine Small	intestine
45	chr8:57905000-57907200	Active TSS	Fetal Kidney	kidney
46	chr8:57905000-57907200	Active TSS	Placenta Amnion	Placenta Amnion
47	chr8:57905000-57907400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:57905000-57907400	Active TSS	Brain Anterior Caudate	brain
49	chr8:57905000-57907400	Active TSS	Duodenum Mucosa	Duodenum
50	chr8:57905000-57907400	Active TSS	Fetal Intestine Large	intestine

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