Variant report

Variant	rs2980567
Chromosome Location	chr8:110346781-110346782
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:449)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr8:110346155-110346984	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:110346027-110347029	GM12878	blood:	n/a	n/a
3	BRCA1	chr8:110346155-110346815	GM12878	blood:	n/a	n/a
4	SIN3AK20	chr8:110345676-110346915	PANC-1	pancreas:	n/a	n/a
5	YY1	chr8:110346176-110346860	GM12891	blood:	n/a	chr8:110346496-110346510
6	TCF7L2	chr8:110346150-110346794	PANC-1	pancreas:	n/a	n/a
7	RELA	chr8:110346179-110347090	GM19099	blood:	n/a	n/a
8	E2F6	chr8:110345857-110346951	K562	blood:	n/a	n/a
9	STAT3	chr8:110346171-110346961	MCF10A-Er-Src	breast:	n/a	chr8:110346366-110346374 chr8:110346873-110346885 chr8:110346541-110346562 chr8:110346364-110346375
10	NFYA	chr8:110346180-110346790	K562	blood:	n/a	n/a
11	TAF1	chr8:110346433-110346783	GM12892	blood:	n/a	n/a
12	MAX	chr8:110345755-110347028	A549	lung:	n/a	n/a
13	E2F6	chr8:110345843-110346889	H1-hESC	embryonic stem cell:	n/a	n/a
14	RFX5	chr8:110346183-110347116	HepG2	liver:	n/a	chr8:110346479-110346493 chr8:110346481-110346490
15	POLR2A	chr8:110345388-110347121	U87	brain:	n/a	n/a
16	TCF12	chr8:110346365-110346803	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:110345661-110346918	A549	lung:	n/a	n/a
18	GABPA	chr8:110346108-110346920	K562	blood:	n/a	n/a
19	MAX	chr8:110345966-110346953	K562	blood:	n/a	n/a
20	POLR2A	chr8:110346485-110347101	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr8:110346423-110346846	GM12891	blood:	n/a	n/a
22	GABPA	chr8:110345752-110347006	K562	blood:	n/a	n/a
23	ZBTB33	chr8:110346126-110346822	SK-N-SH	brain:	n/a	n/a
24	ZNF217	chr8:110346221-110346891	MCF-7	breast:	n/a	n/a
25	TAF1	chr8:110346055-110346991	K562	blood:	n/a	n/a
26	POLR2A	chr8:110345374-110347187	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr8:110346740-110346890	HAc	cerebellar:	n/a	n/a
28	RCOR1	chr8:110346084-110347424	GM12878	blood:	n/a	n/a
29	ZNF143	chr8:110345685-110347247	H1-hESC	embryonic stem cell:	n/a	chr8:110346372-110346381 chr8:110346358-110346377 chr8:110346468-110346487 chr8:110346406-110346424 chr8:110346363-110346381 chr8:110346370-110346379
30	POLR2A	chr8:110345349-110347136	HUVEC	blood vessel:	n/a	n/a
31	TEAD4	chr8:110346075-110347158	HepG2	liver:	n/a	n/a
32	ELF1	chr8:110346032-110346864	A549	lung:	n/a	n/a
33	HA-E2F1	chr8:110345669-110347164	MCF-7	breast:	n/a	n/a
34	MYC	chr8:110346079-110346989	MCF10A-Er-Src	breast:	n/a	n/a
35	REST	chr8:110346075-110346971	HL-60	blood:	n/a	n/a
36	TAF7	chr8:110346399-110346957	H1-hESC	embryonic stem cell:	n/a	n/a
37	STAT1	chr8:110345450-110347007	Hela-S3	cervix:	n/a	chr8:110346366-110346374 chr8:110346042-110346062 chr8:110346873-110346885 chr8:110345669-110345680
38	POU2F2	chr8:110346215-110346800	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:110345590-110347042	K562	blood:	n/a	n/a
40	POLR2A	chr8:110345973-110347135	PANC-1	pancreas:	n/a	n/a
41	MYC	chr8:110345963-110346930	MCF-7	breast:	n/a	n/a
42	MYC	chr8:110345626-110346959	K562	blood:	n/a	n/a
43	MXI1	chr8:110346129-110346998	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr8:110346464-110346933	HepG2	liver:	n/a	n/a
45	POLR2A	chr8:110346059-110346884	GM12878	blood:	n/a	n/a
46	ELF1	chr8:110345568-110346907	GM12878	blood:	n/a	n/a
47	SREBP1	chr8:110345914-110347106	GM12878	blood:	n/a	n/a
48	CREB1	chr8:110345939-110347091	HepG2	liver:	n/a	n/a
49	POLR2A	chr8:110345382-110347181	U87	brain:	n/a	n/a
50	GABPA	chr8:110346031-110346954	A549	lung:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110344753..110346999-chr8:110656055..110658588,2	MCF-7	breast:
2	chr8:110345081..110347283-chr8:110656599..110658183,2	K562	blood:
3	chr8:110346229..110349558-chr8:110551131..110555531,7	K562	blood:
4	chr18:9913866..9914668-chr8:110346175..110346930,2	Hela-S3	cervix:
5	chr8:110344786..110348564-chr8:110349076..110353866,8	MCF-7	breast:
6	chr1:935000..935789-chr8:110346539..110347078,2	Hela-S3	cervix:
7	chr8:109930677..109932392-chr8:110345259..110348256,2	MCF-7	breast:
8	chr8:110345039..110348121-chr8:110985396..110989742,4	MCF-7	breast:
9	chr1:173836721..173837338-chr8:110346299..110347048,2	Hela-S3	cervix:
10	chr8:110345043..110348121-chr8:110552187..110555580,5	K562	blood:
11	chr8:110344871..110348245-chr8:110549404..110554651,7	MCF-7	breast:
12	chr8:110344899..110348479-chr8:110652629..110655762,4	MCF-7	breast:
13	chr12:52445050..52445689-chr8:110346302..110346908,2	Hela-S3	cervix:
14	chr6:83902572..83903243-chr8:110346207..110346917,2	Hela-S3	cervix:
15	chr8:110339087..110342457-chr8:110344931..110347313,3	K562	blood:
16	chr8:109259359..109262285-chr8:110346380..110348055,2	K562	blood:
17	chr8:110345283..110346986-chr8:110550788..110552919,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENY2	TF binding region
NUDCD1	TF binding region
ENSG00000013392	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000013375	Chromatin interaction
ENSG00000255402	Chromatin interaction
ENSG00000253796	Chromatin interaction
ENSG00000248050	Chromatin interaction
ENSG00000104408	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000188290	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000101558	Chromatin interaction
ENSG00000164794	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	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891280	chr8:110346363-110465481	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr8:110343800-110347600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr8:110344000-110348000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:110344200-110347600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr8:110344200-110348000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:110344400-110348400	Active TSS	Right Ventricle	heart
6	chr8:110344600-110347400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:110344600-110347600	Active TSS	HSMMtube	muscle
8	chr8:110344600-110347600	Active TSS	NHLF	lung
9	chr8:110344600-110348200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:110344800-110347200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr8:110344800-110347400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr8:110344800-110347600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:110344800-110347600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:110344800-110347600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr8:110344800-110347600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr8:110344800-110348000	Active TSS	Right Atrium	heart
17	chr8:110345000-110347000	Active TSS	NHEK	skin
18	chr8:110345000-110347200	Active TSS	Hela-S3	cervix
19	chr8:110345000-110347200	Active TSS	HMEC	breast
20	chr8:110345000-110347400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:110345000-110347400	Active TSS	Thymus	Thymus
22	chr8:110345000-110347600	Active TSS	H1 Cell Line	embryonic stem cell
23	chr8:110345000-110347600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:110345000-110347600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:110345000-110347600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr8:110345000-110347600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:110345000-110347600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:110345000-110347600	Active TSS	HSMM	muscle
29	chr8:110345000-110347600	Active TSS	NHDF-Ad	bronchial
30	chr8:110345000-110347800	Active TSS	Psoas Muscle	Psoas
31	chr8:110345000-110348000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:110345000-110348000	Active TSS	K562	blood
33	chr8:110345000-110348200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr8:110345000-110348200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:110345000-110348200	Active TSS	GM12878-XiMat	blood
36	chr8:110345200-110347000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:110345200-110347000	Active TSS	Brain Hippocampus Middle	brain
38	chr8:110345200-110347200	Active TSS	Brain Anterior Caudate	brain
39	chr8:110345200-110347200	Active TSS	Fetal Brain Male	brain
40	chr8:110345200-110347400	Active TSS	Fetal Stomach	stomach
41	chr8:110345200-110347600	Active TSS	Muscle Satellite Cultured Cells	--
42	chr8:110345200-110347600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:110345200-110347600	Active TSS	Fetal Intestine Large	intestine
44	chr8:110345200-110347600	Active TSS	Fetal Lung	lung
45	chr8:110345200-110347600	Active TSS	Fetal Muscle Leg	muscle
46	chr8:110345200-110347600	Active TSS	Fetal Thymus	thymus
47	chr8:110345200-110347600	Active TSS	A549	lung
48	chr8:110345200-110347800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:110345200-110347800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:110345200-110347800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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