Variant report

Variant	rs2278951
Chromosome Location	chr17:33904792-33904793
allele	A/C
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	POLR2A	chr17:33904641-33906019	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr17:33904548-33906636	SK-N-SH	brain:	n/a	n/a
3	MYC	chr17:33904754-33905982	K562	blood:	n/a	chr17:33905388-33905398
4	POLR2A	chr17:33904747-33906624	GM12878	blood:	n/a	n/a
5	RUNX3	chr17:33904779-33906349	GM12878	blood:	n/a	n/a
6	MYC	chr17:33904755-33906472	K562	blood:	n/a	chr17:33905388-33905398
7	POLR2A	chr17:33903526-33906572	U87	brain:	n/a	n/a
8	POLR2A	chr17:33904710-33906141	U87	brain:	n/a	n/a
9	POLR2A	chr17:33904686-33906020	HUVEC	blood vessel:	n/a	n/a
10	MTA3	chr17:33904777-33906596	GM12878	blood:	n/a	n/a
11	POLR2A	chr17:33901409-33907583	K562	blood:	n/a	n/a
12	ZNF263	chr17:33904642-33906022	HEK293-T-REx	kidney:	n/a	chr17:33905392-33905401
13	POLR2A	chr17:33902306-33906596	K562	blood:	n/a	n/a
14	POLR2A	chr17:33904778-33905093	HCT-116	colon:	n/a	n/a
15	POLR2A	chr17:33904609-33906141	U87	brain:	n/a	n/a
16	POLR2A	chr17:33901875-33906561	K562	blood:	n/a	n/a
17	MAX	chr17:33904777-33905954	ECC-1	luminal epithelium:	n/a	chr17:33905388-33905398
18	POLR2A	chr17:33904594-33906496	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr17:33904783-33906583	HUVEC	blood vessel:	n/a	n/a
20	BCLAF1	chr17:33904774-33906504	GM12878	blood:	n/a	chr17:33905604-33905613
21	TBP	chr17:33904584-33906392	Hela-S3	cervix:	n/a	n/a
22	NR2F2	chr17:33904556-33906498	K562	blood:	n/a	n/a
23	POLR2A	chr17:33904752-33906492	HepG2	liver:	n/a	n/a
24	POLR2A	chr17:33904604-33906562	GM12878	blood:	n/a	n/a
25	MXI1	chr17:33903925-33907137	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr17:33904495-33906616	K562	blood:	n/a	n/a
27	EP300	chr17:33904664-33905941	K562	blood:	n/a	chr17:33905484-33905494
28	POLR2A	chr17:33904781-33906613	K562	blood:	n/a	n/a
29	POLR2A	chr17:33904713-33906466	GM18505	blood:	n/a	n/a
30	ZNF143	chr17:33904308-33906371	K562	blood:	n/a	chr17:33905709-33905727
31	GABPA	chr17:33904753-33906581	A549	lung:	n/a	chr17:33905500-33905509
32	POLR2A	chr17:33904736-33906065	GM12891	blood:	n/a	n/a
33	POLR2A	chr17:33904399-33906572	U87	brain:	n/a	n/a
34	MXI1	chr17:33904316-33906119	IMR90	lung:	n/a	n/a
35	POLR2A	chr17:33903573-33906579	GM12891	blood:	n/a	n/a
36	NFATC1	chr17:33904568-33905861	GM12878	blood:	n/a	n/a
37	POLR2A	chr17:33903468-33906548	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr17:33904661-33906019	HepG2	liver:	n/a	n/a
39	POLR2A	chr17:33904776-33906518	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr17:33904754-33906107	K562	blood:	n/a	chr17:33905388-33905398
41	POLR2A	chr17:33904397-33906495	GM12878	blood:	n/a	n/a
42	POLR2A	chr17:33903478-33906443	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr17:33904764-33906094	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr17:33904676-33906580	PFSK-1	brain:	n/a	n/a
45	MTA3	chr17:33904494-33906493	GM12878	blood:	n/a	n/a
46	POLR2A	chr17:33904580-33906052	ECC-1	luminal epithelium:	n/a	n/a
47	HCFC1	chr17:33904016-33906644	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr17:33904677-33906587	K562	blood:	n/a	n/a
49	IRF1	chr17:33904151-33906220	K562	blood:	n/a	chr17:33905604-33905615 chr17:33905672-33905685 chr17:33905054-33905071 chr17:33905060-33905070 chr17:33905056-33905070 chr17:33905165-33905181 chr17:33905059-33905070 chr17:33905602-33905616 chr17:33905059-33905071 chr17:33905060-33905074 chr17:33905604-33905618 chr17:33905059-33905071 chr17:33905605-33905616 chr17:33905163-33905177
50	TEAD4	chr17:33903560-33906457	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:33865333..33868494-chr17:33903936..33906030,4	K562	blood:
2	chr17:33865333..33867975-chr17:33904009..33907160,3	K562	blood:
3	chr17:33903370..33909494-chr17:33910892..33920548,27	MCF-7	breast:
4	chr17:33467495..33469178-chr17:33902506..33904916,2	K562	blood:
5	chr17:33904670..33906387-chr17:34135611..34138584,2	MCF-7	breast:
6	chr17:33891810..33896606-chr17:33903023..33907452,11	MCF-7	breast:
7	chr17:33467478..33469178-chr17:33902075..33904916,3	K562	blood:
8	chr17:33903959..33906487-chr17:34046885..34048555,2	K562	blood:

Variant related genes	Relation type
AP2B1	TF binding region
ENSG00000267035	Chromatin interaction
ENSG00000006125	Chromatin interaction
ENSG00000172660	Chromatin interaction
ENSG00000267578	Chromatin interaction
ENSG00000267321	Chromatin interaction
ENSG00000239520	Chromatin interaction
ENSG00000242660	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10491116	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10512473	1.00[AFR][1000 genomes]
rs12600769	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12604052	1.00[AFR][1000 genomes]
rs1531057	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16971128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16971156	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16971437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2240903	1.00[AFR][1000 genomes]
rs3785760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3785762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3826401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72625914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr17:33895800-33904800	Weak transcription	Ovary	ovary
2	chr17:33896000-33904800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:33896200-33905000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:33896200-33905000	Weak transcription	Aorta	Aorta
5	chr17:33896400-33904800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr17:33896400-33904800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:33896400-33904800	Weak transcription	Colonic Mucosa	Colon
8	chr17:33896400-33904800	Weak transcription	Esophagus	oesophagus
9	chr17:33896400-33904800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr17:33896400-33904800	Weak transcription	Right Ventricle	heart
11	chr17:33896400-33905000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:33896400-33905000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:33897600-33905000	Weak transcription	Gastric	stomach
14	chr17:33897600-33905000	Weak transcription	Small Intestine	intestine
15	chr17:33897600-33905200	Weak transcription	Spleen	Spleen
16	chr17:33898600-33905000	Weak transcription	Lung	lung
17	chr17:33900200-33905000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:33901400-33904800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr17:33901400-33904800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:33901600-33905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr17:33903000-33904800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr17:33903200-33904800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:33903200-33904800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr17:33903200-33904800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr17:33903400-33904800	Weak transcription	Placenta	Placenta
26	chr17:33903800-33904800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr17:33903800-33904800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr17:33903800-33905000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:33903800-33906400	Active TSS	GM12878-XiMat	blood
30	chr17:33904000-33904800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr17:33904000-33904800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr17:33904000-33904800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr17:33904000-33904800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:33904000-33904800	Enhancers	Thymus	Thymus
35	chr17:33904000-33905000	Flanking Active TSS	Liver	Liver
36	chr17:33904000-33905000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr17:33904000-33905000	Flanking Active TSS	Hela-S3	cervix
38	chr17:33904000-33905000	Flanking Active TSS	HepG2	liver
39	chr17:33904000-33905000	Flanking Active TSS	Osteobl	bone
40	chr17:33904000-33905200	Flanking Active TSS	Dnd41	blood
41	chr17:33904000-33906800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr17:33904200-33904800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:33904200-33904800	Enhancers	Primary B cells from peripheral blood	blood
44	chr17:33904200-33904800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr17:33904200-33904800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr17:33904200-33904800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:33904200-33904800	Enhancers	Fetal Thymus	thymus
48	chr17:33904200-33905000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:33904200-33905000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:33904200-33905000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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