Variant report

Variant	rs554734304
Chromosome Location	chr8:19674633-19674634
allele	-/CCGCCC
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	ATF3	chr8:19674599-19675104	A549	lung:	n/a	n/a
2	POLR2A	chr8:19674261-19675933	MCF-7	breast:	n/a	n/a
3	CREB1	chr8:19674319-19675302	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:19674062-19675954	K562	blood:	n/a	n/a
5	MYBL2	chr8:19674609-19675294	HepG2	liver:	n/a	chr8:19674797-19674811
6	GATA3	chr8:19674422-19675316	A549	lung:	n/a	n/a
7	POLR2A	chr8:19674329-19675247	K562	blood:	n/a	n/a
8	TEAD4	chr8:19674520-19675309	K562	blood:	n/a	n/a
9	TCF12	chr8:19674485-19675303	ECC-1	luminal epithelium:	n/a	n/a
10	BATF	chr8:19674526-19674998	GM12878	blood:	n/a	n/a
11	YY1	chr8:19674331-19675233	GM12878	blood:	n/a	chr8:19674465-19674479
12	STAT3	chr8:19673907-19675056	MCF10A-Er-Src	breast:	n/a	chr8:19674815-19674826
13	POLR2A	chr8:19674183-19676012	PBDE	blood:	n/a	n/a
14	YY1	chr8:19674325-19675284	K562	blood:	n/a	chr8:19674465-19674479
15	EP300	chr8:19674288-19674976	GM12878	blood:	n/a	chr8:19674448-19674461
16	SP1	chr8:19674496-19675109	H1-hESC	embryonic stem cell:	n/a	chr8:19674824-19674835
17	YY1	chr8:19674336-19675249	K562	blood:	n/a	chr8:19674465-19674479
18	EP300	chr8:19674632-19675150	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr8:19674307-19675954	ECC-1	luminal epithelium:	n/a	n/a
20	GABPA	chr8:19674339-19675297	K562	blood:	n/a	chr8:19674708-19674722 chr8:19674711-19674722
21	POLR2A	chr8:19674254-19675188	SK-N-SH	brain:	n/a	n/a
22	POU2F2	chr8:19674613-19675175	GM12891	blood:	n/a	n/a
23	MAX	chr8:19674335-19675231	A549	lung:	n/a	chr8:19674517-19674527
24	YY1	chr8:19674544-19675114	HCT-116	colon:	n/a	n/a
25	RFX5	chr8:19674398-19675056	GM12878	blood:	n/a	n/a
26	RCOR1	chr8:19674094-19675038	K562	blood:	n/a	n/a
27	MAX	chr8:19674506-19675307	MCF-7	breast:	n/a	chr8:19674517-19674527
28	MYC	chr8:19674348-19675902	Hela-S3	cervix:	n/a	chr8:19674517-19674527
29	POLR2A	chr8:19674292-19675893	MCF-7	breast:	n/a	n/a
30	FOXM1	chr8:19674592-19675106	GM12878	blood:	n/a	n/a
31	TAF1	chr8:19674232-19675882	ECC-1	luminal epithelium:	n/a	n/a
32	STAT1	chr8:19674584-19675071	GM12878	blood:	n/a	n/a
33	TAF1	chr8:19674325-19675292	HepG2	liver:	n/a	n/a
34	MAX	chr8:19674504-19675114	MCF-7	breast:	n/a	chr8:19674517-19674527
35	JUN	chr8:19674222-19676106	K562	blood:	n/a	chr8:19674876-19674890
36	MAX	chr8:19674287-19675966	GM12878	blood:	n/a	chr8:19674517-19674527
37	IRF1	chr8:19674064-19675204	K562	blood:	n/a	n/a
38	POLR2A	chr8:19674231-19675966	K562	blood:	n/a	n/a
39	PAX5	chr8:19674542-19675164	GM12878	blood:	n/a	n/a
40	POLR2A	chr8:19674288-19675869	A549	lung:	n/a	n/a
41	POLR2A	chr8:19674113-19675291	SK-N-MC	brain:	n/a	n/a
42	RFX5	chr8:19674413-19675165	HepG2	liver:	n/a	n/a
43	SP4	chr8:19674549-19674999	H1-hESC	embryonic stem cell:	n/a	chr8:19674824-19674835
44	MTA3	chr8:19674561-19675293	GM12878	blood:	n/a	n/a
45	POLR2A	chr8:19674279-19676054	NB4	blood:	n/a	n/a
46	MAX	chr8:19674401-19675975	HepG2	liver:	n/a	chr8:19674517-19674527
47	MYC	chr8:19674221-19676002	K562	blood:	n/a	chr8:19674517-19674527
48	TEAD4	chr8:19674629-19675139	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr8:19674129-19675914	GM12878	blood:	n/a	n/a
50	NFIC	chr8:19674494-19675124	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:19674243..19675884-chr8:19680646..19683864,3	MCF-7	breast:
2	chr5:133304170..133304850-chr8:19674192..19675155,2	HCT-116	colon:
3	chr5:134094453..134095205-chr8:19674522..19675109,2	Hela-S3	cervix:
4	chr3:138608050..138608809-chr8:19674191..19674935,2	NB4	blood:
5	chr3:40494258..40495131-chr8:19674253..19674786,2	Hela-S3	cervix:
6	chr8:19674069..19678740-chr8:19703160..19710631,7	K562	blood:
7	chr15:65588319..65589097-chr8:19674080..19674695,2	NB4	blood:
8	chr8:19673492..19676303-chr8:19685537..19688131,3	MCF-7	breast:

Variant related genes	Relation type
INTS10	TF binding region
ENSG00000242244	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000223797	Chromatin interaction
ENSG00000113583	Chromatin interaction
ENSG00000104613	Chromatin interaction
ENSG00000145833	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	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3425950	chr8:19673522-19676520	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19673600-19675800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:19673600-19675800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:19673600-19676000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:19673800-19674800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:19673800-19675400	Active TSS	HMEC	breast
6	chr8:19673800-19675600	Active TSS	Brain Germinal Matrix	brain
7	chr8:19673800-19675600	Active TSS	Fetal Brain Female	brain
8	chr8:19673800-19675800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:19673800-19675800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr8:19673800-19675800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr8:19673800-19675800	Active TSS	Rectal Smooth Muscle	rectum
12	chr8:19673800-19675800	Active TSS	HSMM	muscle
13	chr8:19673800-19676000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:19673800-19676000	Active TSS	Colonic Mucosa	Colon
15	chr8:19673800-19676000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr8:19673800-19676200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:19673800-19676200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:19673800-19676200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:19673800-19676200	Active TSS	Brain Angular Gyrus	brain
20	chr8:19673800-19676200	Active TSS	Fetal Intestine Large	intestine
21	chr8:19673800-19676200	Active TSS	GM12878-XiMat	blood
22	chr8:19673800-19676200	Active TSS	NH-A	brain
23	chr8:19673800-19676400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:19673800-19676800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:19674000-19675000	Active TSS	Right Atrium	heart
26	chr8:19674000-19675400	Active TSS	Primary T cells from cord blood	blood
27	chr8:19674000-19675400	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr8:19674000-19675400	Active TSS	Fetal Muscle Trunk	muscle
29	chr8:19674000-19675400	Active TSS	Placenta Amnion	Placenta Amnion
30	chr8:19674000-19675400	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr8:19674000-19675400	Active TSS	Stomach Smooth Muscle	stomach
32	chr8:19674000-19675600	Active TSS	Duodenum Mucosa	Duodenum
33	chr8:19674000-19675600	Active TSS	Fetal Brain Male	brain
34	chr8:19674000-19675600	Active TSS	Fetal Lung	lung
35	chr8:19674000-19675600	Active TSS	Right Ventricle	heart
36	chr8:19674000-19675600	Active TSS	Thymus	Thymus
37	chr8:19674000-19675600	Active TSS	NHEK	skin
38	chr8:19674000-19675800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:19674000-19675800	Active TSS	Brain Anterior Caudate	brain
40	chr8:19674000-19675800	Active TSS	Brain Cingulate Gyrus	brain
41	chr8:19674000-19675800	Active TSS	Colon Smooth Muscle	Colon
42	chr8:19674000-19675800	Active TSS	Fetal Kidney	kidney
43	chr8:19674000-19676000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:19674000-19676000	Active TSS	H9 Cell Line	embryonic stem cell
45	chr8:19674000-19676000	Active TSS	Aorta	Aorta
46	chr8:19674000-19676000	Active TSS	Ovary	ovary
47	chr8:19674000-19676000	Active TSS	Psoas Muscle	Psoas
48	chr8:19674000-19676200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:19674000-19676200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:19674000-19676200	Active TSS	Brain Substantia Nigra	brain

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