Variant report

Variant	rs544643756
Chromosome Location	chr8:66754420-66754421
allele	C/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	MAX	chr8:66753891-66755421	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr8:66753774-66755321	U87	brain:	n/a	n/a
3	HEY1	chr8:66754000-66755044	HepG2	liver:	n/a	chr8:66754345-66754354 chr8:66754343-66754352 chr8:66754806-66754815 chr8:66754804-66754813 chr8:66754275-66754290
4	HA-E2F1	chr8:66753029-66754975	Hela-S3	cervix:	n/a	chr8:66753923-66753935 chr8:66754804-66754813 chr8:66754343-66754352 chr8:66754043-66754052 chr8:66754345-66754354 chr8:66754563-66754572 chr8:66753852-66753861 chr8:66754806-66754815 chr8:66754010-66754020 chr8:66753589-66753599
5	FOSL1	chr8:66754025-66754502	H1-hESC	embryonic stem cell:	n/a	chr8:66754344-66754353
6	ATF2	chr8:66754052-66755317	GM12878	blood:	n/a	chr8:66754802-66754816 chr8:66754840-66754851 chr8:66754343-66754354 chr8:66754804-66754815 chr8:66754341-66754355
7	MYC	chr8:66754308-66754731	MCF-7	breast:	n/a	n/a
8	POLR2A	chr8:66753527-66755170	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr8:66753965-66755313	U87	brain:	n/a	n/a
10	POLR2A	chr8:66753681-66755098	GM10847	blood:	n/a	n/a
11	GTF2F1	chr8:66753985-66755051	K562	blood:	n/a	n/a
12	PML	chr8:66754108-66755068	K562	blood:	n/a	n/a
13	POLR2A	chr8:66753965-66755368	U87	brain:	n/a	n/a
14	BHLHE40	chr8:66754001-66754979	K562	blood:	n/a	n/a
15	E2F4	chr8:66754034-66755227	MCF10A-Er-Src	breast:	n/a	chr8:66754804-66754813 chr8:66754343-66754352 chr8:66754043-66754052 chr8:66754345-66754354 chr8:66754563-66754572 chr8:66754806-66754815
16	POLR2A	chr8:66752331-66755723	GM12878	blood:	n/a	n/a
17	BRCA1	chr8:66754223-66754925	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3AK20	chr8:66753883-66754522	SK-N-SH	brain:	n/a	n/a
19	RUNX3	chr8:66753871-66754997	GM12878	blood:	n/a	n/a
20	CTCF	chr8:66754246-66754438	K562	blood:	n/a	n/a
21	POLR2A	chr8:66753872-66755051	H1-hESC	embryonic stem cell:	n/a	n/a
22	NRF1	chr8:66754205-66754763	Hela-S3	cervix:	n/a	chr8:66754562-66754576 chr8:66754562-66754573 chr8:66754564-66754573
23	POLR2A	chr8:66753531-66755251	K562	blood:	n/a	n/a
24	TFAP2A	chr8:66752947-66755267	Hela-S3	cervix:	n/a	chr8:66753360-66753372 chr8:66754901-66754909 chr8:66754900-66754908 chr8:66753154-66753165 chr8:66754900-66754908 chr8:66753586-66753597 chr8:66754049-66754060 chr8:66754901-66754909 chr8:66754917-66754929 chr8:66753917-66753929 chr8:66753814-66753829 chr8:66754049-66754060 chr8:66754049-66754060 chr8:66754900-66754908 chr8:66754918-66754926 chr8:66754898-66754913 chr8:66754049-66754060 chr8:66754044-66754059 chr8:66754901-66754909
25	TFAP2C	chr8:66752921-66755242	Hela-S3	cervix:	n/a	chr8:66753977-66753992
26	IRF1	chr8:66754104-66755435	K562	blood:	n/a	chr8:66755099-66755113 chr8:66754922-66754936
27	SMC3	chr8:66754042-66755355	GM12878	blood:	n/a	chr8:66754161-66754171
28	SRF	chr8:66754031-66755083	ECC-1	luminal epithelium:	n/a	n/a
29	MAZ	chr8:66753021-66755211	Hela-S3	cervix:	n/a	chr8:66753804-66753814
30	POU2F2	chr8:66753870-66755049	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:66753009-66755120	NB4	blood:	n/a	n/a
32	BCL3	chr8:66754194-66754768	A549	lung:	n/a	n/a
33	TAF1	chr8:66754075-66754509	PFSK-1	brain:	n/a	n/a
34	TAF1	chr8:66753885-66755155	GM12878	blood:	n/a	n/a
35	POLR2A	chr8:66753352-66755045	K562	blood:	n/a	n/a
36	CHD2	chr8:66754218-66755184	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr8:66752882-66755371	A549	lung:	n/a	chr8:66753804-66753814
38	FOXP2	chr8:66754348-66754575	SK-N-MC	brain:	n/a	n/a
39	TCF7L2	chr8:66753034-66755019	HCT-116	colon:	n/a	n/a
40	EP300	chr8:66753901-66755014	H1-hESC	embryonic stem cell:	n/a	chr8:66754995-66755009 chr8:66754270-66754279 chr8:66753941-66753950 chr8:66754271-66754287
41	PML	chr8:66753886-66755531	GM12878	blood:	n/a	n/a
42	POLR2A	chr8:66753979-66755255	HepG2	liver:	n/a	n/a
43	POLR2A	chr8:66754067-66755020	SK-N-SH	brain:	n/a	n/a
44	MAFK	chr8:66753992-66755274	Hela-S3	cervix:	n/a	n/a
45	E2F1	chr8:66753588-66754883	Hela-S3	cervix:	n/a	chr8:66753923-66753935 chr8:66754804-66754813 chr8:66754343-66754352 chr8:66754043-66754052 chr8:66754345-66754354 chr8:66754563-66754572 chr8:66753852-66753861 chr8:66754806-66754815 chr8:66754010-66754020 chr8:66753589-66753599
46	POLR2A	chr8:66753988-66755252	HUVEC	blood vessel:	n/a	n/a
47	PBX3	chr8:66754021-66755087	SK-N-SH	brain:	n/a	n/a
48	MAX	chr8:66753883-66755159	HCT-116	colon:	n/a	n/a
49	ARID3A	chr8:66754247-66754443	K562	blood:	n/a	n/a
50	YY1	chr8:66754153-66755164	H1-hESC	embryonic stem cell:	n/a	chr8:66754328-66754339 chr8:66754241-66754252

No.	Distal block	Cell Line	Cell type
1	chr8:66754330..66755269-chr9:140135296..140136144,2	HCT-116	colon:
2	chr8:66753039..66754980-chr8:67343764..67346186,2	K562	blood:
3	chr8:66695473..66703733-chr8:66751774..66756006,10	K562	blood:
4	chr8:66752746..66756404-chr8:66931747..66936511,11	MCF-7	breast:
5	chr17:73975126..73976087-chr8:66754050..66754831,2	NB4	blood:
6	chr6:26271440..26272118-chr8:66753972..66754564,2	Hela-S3	cervix:
7	chr19:4342444..4342968-chr8:66754415..66755037,2	HCT-116	colon:
8	chr19:55769985..55770876-chr8:66754056..66754841,2	Hela-S3	cervix:
9	chr3:183354213..183354782-chr8:66754243..66754804,2	HCT-116	colon:
10	chr7:66767408..66768408-chr8:66753835..66754521,2	Hela-S3	cervix:
11	chr2:208490326..208490930-chr8:66754321..66754946,2	Hela-S3	cervix:
12	chr8:66752587..66755352-chr8:66933051..66936501,7	MCF-7	breast:
13	chr10:70091323..70092014-chr8:66754029..66754661,2	Hela-S3	cervix:
14	chr4:89744060..89744671-chr8:66754346..66754963,2	Hela-S3	cervix:
15	chr14:90862889..90863882-chr8:66753971..66754946,3	Hela-S3	cervix:

Variant related genes	Relation type
PDE7A	TF binding region
ENSG00000272192	TF binding region
ENSG00000105063	Chromatin interaction
ENSG00000198668	Chromatin interaction
ENSG00000067601	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000138640	Chromatin interaction
ENSG00000096746	Chromatin interaction
ENSG00000106610	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000144401	Chromatin interaction
ENSG00000178078	Chromatin interaction
ENSG00000261408	Chromatin interaction
ENSG00000147570	Chromatin interaction
ENSG00000161533	Chromatin interaction
ENSG00000257949	Chromatin interaction
ENSG00000114796	Chromatin interaction
ENSG00000205268	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3325067	chr8:66753023-66755571	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr8:66748000-66754600	Active TSS	Primary T cells fromperipheralblood	blood
2	chr8:66748200-66755800	Active TSS	Thymus	Thymus
3	chr8:66749200-66755200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:66749600-66755000	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr8:66749600-66755000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr8:66749800-66755000	Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr8:66750800-66755000	Active TSS	GM12878-XiMat	blood
8	chr8:66751000-66755200	Active TSS	Right Atrium	heart
9	chr8:66751000-66755600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr8:66751200-66754800	Active TSS	Fetal Thymus	thymus
11	chr8:66751200-66755200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:66751200-66755200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr8:66751200-66755200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:66751200-66755400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr8:66751400-66755000	Active TSS	Dnd41	blood
16	chr8:66751400-66755800	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:66751800-66755000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:66751800-66755200	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr8:66751800-66755200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:66751800-66755200	Active TSS	K562	blood
21	chr8:66751800-66755400	Active TSS	NHDF-Ad	bronchial
22	chr8:66752000-66755000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr8:66752000-66755000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr8:66752000-66755000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:66752000-66755000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:66752000-66755000	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr8:66752000-66755000	Active TSS	Hela-S3	cervix
28	chr8:66752000-66755000	Active TSS	NHLF	lung
29	chr8:66752000-66755200	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr8:66752000-66755400	Active TSS	H1 Cell Line	embryonic stem cell
31	chr8:66752000-66755400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:66752200-66754800	Active TSS	NHEK	skin
33	chr8:66752200-66755000	Active TSS	Primary T cells from cord blood	blood
34	chr8:66752200-66755000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:66752200-66755000	Active TSS	A549	lung
36	chr8:66752200-66755200	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr8:66752200-66755600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:66752400-66755000	Active TSS	Brain Angular Gyrus	brain
39	chr8:66752400-66755200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:66752400-66755200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:66752400-66755200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:66752400-66755200	Active TSS	Fetal Kidney	kidney
43	chr8:66752400-66755200	Active TSS	Fetal Muscle Leg	muscle
44	chr8:66752400-66755400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr8:66752400-66755600	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr8:66752600-66754800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:66752600-66755000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:66752600-66755000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:66752600-66755000	Active TSS	Fetal Intestine Small	intestine
50	chr8:66752600-66755200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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