Variant report

Variant	rs59856977
Chromosome Location	chr17:16472784-16472785
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	MAZ	chr17:16472407-16472786	GM12878	blood:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
2	POLR2A	chr17:16471895-16472800	MCF-7	breast:	n/a	n/a
3	RCOR1	chr17:16471143-16472966	IMR90	lung:	n/a	n/a
4	YY1	chr17:16472034-16472813	GM12892	blood:	n/a	chr17:16472318-16472330
5	CREB1	chr17:16472203-16472798	A549	lung:	n/a	n/a
6	MAX	chr17:16471667-16472918	A549	lung:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
7	POLR2A	chr17:16471722-16472838	H1-neurons	neurons:	n/a	n/a
8	RUNX3	chr17:16472219-16473086	GM12878	blood:	n/a	n/a
9	SPI1	chr17:16472694-16473032	GM12891	blood:	n/a	chr17:16472909-16472918 chr17:16472812-16472819 chr17:16472911-16472924
10	E2F6	chr17:16471872-16472847	H1-hESC	embryonic stem cell:	n/a	chr17:16472519-16472528 chr17:16472554-16472563
11	ELF1	chr17:16471995-16472918	GM12878	blood:	n/a	n/a
12	TBL1XR1	chr17:16472409-16472907	GM12878	blood:	n/a	n/a
13	YY1	chr17:16471968-16472794	ECC-1	luminal epithelium:	n/a	chr17:16472318-16472330
14	RUNX3	chr17:16472250-16473050	GM12878	blood:	n/a	n/a
15	REST	chr17:16471734-16472880	H1-neurons	neurons:	n/a	n/a
16	MXI1	chr17:16472422-16472801	GM12878	blood:	n/a	chr17:16472611-16472626 chr17:16472609-16472624
17	POLR2A	chr17:16472069-16472799	HUVEC	blood vessel:	n/a	n/a
18	MAX	chr17:16472108-16472825	SK-N-SH	brain:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
19	NFYB	chr17:16472368-16472830	GM12878	blood:	n/a	chr17:16472552-16472566 chr17:16472552-16472567 chr17:16472552-16472567
20	E2F6	chr17:16471896-16472799	A549	lung:	n/a	chr17:16472519-16472528 chr17:16472554-16472563
21	SIN3AK20	chr17:16471964-16472896	MCF-7	breast:	n/a	n/a
22	SP1	chr17:16472115-16472808	A549	lung:	n/a	chr17:16472553-16472574
23	BHLHE40	chr17:16472246-16472874	GM12878	blood:	n/a	n/a
24	RCOR1	chr17:16472633-16472833	K562	blood:	n/a	n/a
25	CTBP2	chr17:16472419-16472987	H1-hESC	embryonic stem cell:	n/a	n/a
26	E2F6	chr17:16471734-16472927	A549	lung:	n/a	chr17:16472519-16472528 chr17:16472554-16472563
27	TCF12	chr17:16471853-16472992	A549	lung:	n/a	n/a
28	POLR2A	chr17:16471895-16472888	H1-neurons	neurons:	n/a	n/a
29	MAX	chr17:16471810-16472831	A549	lung:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
30	RCOR1	chr17:16472370-16472882	GM12878	blood:	n/a	n/a
31	RCOR1	chr17:16472420-16472801	K562	blood:	n/a	n/a
32	ELF1	chr17:16472214-16472947	GM12878	blood:	n/a	n/a
33	POLR2A	chr17:16472112-16472788	SK-N-MC	brain:	n/a	n/a
34	SPI1	chr17:16472659-16473124	GM12891	blood:	n/a	chr17:16472909-16472918 chr17:16472812-16472819 chr17:16472911-16472924
35	BCL3	chr17:16472118-16472859	A549	lung:	n/a	n/a
36	REST	chr17:16472228-16472793	A549	lung:	n/a	n/a
37	MAX	chr17:16472090-16472800	MCF-7	breast:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
38	REST	chr17:16472266-16472838	A549	lung:	n/a	n/a
39	MXI1	chr17:16471369-16473149	SK-N-SH	brain:	n/a	chr17:16472611-16472626 chr17:16472609-16472624
40	NRF1	chr17:16472001-16472984	SK-N-SH	brain:	n/a	chr17:16472518-16472529 chr17:16472518-16472527 chr17:16472515-16472529 chr17:16472518-16472529 chr17:16472541-16472552
41	SIN3A	chr17:16472128-16472793	H1-hESC	embryonic stem cell:	n/a	n/a
42	STAT1	chr17:16472439-16472786	GM12878	blood:	n/a	chr17:16472578-16472590
43	MAZ	chr17:16472194-16472798	IMR90	lung:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
44	MAX	chr17:16471807-16472900	SK-N-SH	brain:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
45	CHD2	chr17:16472392-16472787	GM12878	blood:	n/a	n/a
46	ZEB1	chr17:16472430-16472787	GM12878	blood:	n/a	n/a
47	MAX	chr17:16472124-16472797	A549	lung:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
48	HA-E2F1	chr17:16472149-16473109	MCF-7	breast:	n/a	chr17:16472519-16472528 chr17:16472554-16472563
49	MAX	chr17:16471846-16472802	ECC-1	luminal epithelium:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
50	HDAC2	chr17:16472083-16472807	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16472754-16472804	HCM	heart:	n/a
2	chr17:16472754-16472804	GM12878	blood:	n/a
3	chr17:16472757-16472807	Jurkat	blood:	n/a
4	chr17:16472754-16472804	HUVEC	blood vessel:	n/a
5	chr17:16472757-16472807	ECC-1	luminal epithelium:	n/a
6	chr17:16472757-16472807	K562	blood:	n/a
7	chr17:16472757-16472807	HRPEpiC	eye:	n/a
8	chr17:16472757-16472807	HRE	kidney:	n/a
9	chr17:16472754-16472804	T-47D	breast:	n/a
10	chr17:16472757-16472807	BE2_C	brain:	n/a
11	chr17:16472757-16472807	NT2-D1	testis:	n/a
12	chr17:16472754-16472804	NH-A	brain:	n/a
13	chr17:16472754-16472804	HRPEpiC	eye:	n/a
14	chr17:16472757-16472807	SK-N-MC	brain:	n/a
15	chr17:16472754-16472804	HCT-116	colon:	n/a
16	chr17:16472754-16472804	HPAEpiC	pulmonary alveolar:	n/a
17	chr17:16472757-16472807	HRCEpiC	kidney:	n/a
18	chr17:16472757-16472807	CMK	blood:	n/a
19	chr17:16472754-16472804	Jurkat	blood:	n/a
20	chr17:16472754-16472804	Hepatocyte	liver:	n/a
21	chr17:16472754-16472804	HAEpiC	amniotic membrane:	n/a
22	chr17:16472757-16472807	PFSK-1	brain:	n/a
23	chr17:16472754-16472804	NT2-D1	testis:	n/a
24	chr17:16472754-16472804	PFSK-1	brain:	n/a
25	chr17:16472757-16472807	SKMC	muscle:	n/a
26	chr17:16472757-16472807	H1-hESC	embryonic stem cell:	embryo
27	chr17:16472757-16472807	SK-N-SH	brain:	n/a
28	chr17:16472754-16472804	U87	brain:	n/a
29	chr17:16472754-16472804	HCPEpiC	choroid plexus:	n/a
30	chr17:16472754-16472804	GM19239	blood:	n/a
31	chr17:16472757-16472807	GM12891	blood:	n/a
32	chr17:16472754-16472804	ECC-1	luminal epithelium:	n/a
33	chr17:16472757-16472807	NHBE	bronchial:	n/a
34	chr17:16472754-16472804	A549	lung:	n/a
35	chr17:16472757-16472807	MCF10A-Er-Src	breast:	n/a
36	chr17:16472757-16472807	GM12892	blood:	n/a
37	chr17:16472757-16472807	GM19239	blood:	n/a
38	chr17:16472754-16472804	AG04449	skin:	fetal
39	chr17:16472754-16472804	ProgFib	skin:	n/a
40	chr17:16472757-16472807	HNPCEpiC	eye:	n/a
41	chr17:16472754-16472804	H1-hESC	embryonic stem cell:	embryo
42	chr17:16472754-16472804	GM12891	blood:	n/a
43	chr17:16472757-16472807	AG04450	lung:	fetal
44	chr17:16472754-16472804	BJ	skin:	n/a
45	chr17:16472757-16472807	AoSMC	blood vessel:	n/a
46	chr17:16472757-16472807	SAEC	small airway:	n/a
47	chr17:16472757-16472807	HIPEpiC	eye:	n/a
48	chr17:16472757-16472807	ovcar-3	ovarian:	n/a
49	chr17:16472754-16472804	MCF-7	breast:	n/a
50	chr17:16472757-16472807	AG09319	gingival:	n/a

Variant related genes	Relation type
ZNF287	TF binding region
ZNF287	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16959821	0.89[EUR][1000 genomes]
rs16959828	0.89[EUR][1000 genomes]
rs17716132	0.89[EUR][1000 genomes]
rs17778652	0.91[EUR][1000 genomes]
rs2006260	0.81[EUR][1000 genomes]
rs57442832	0.94[EUR][1000 genomes]
rs6502509	0.86[EUR][1000 genomes]
rs7222543	0.89[EUR][1000 genomes]
rs73282641	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9889728	0.89[EUR][1000 genomes]
rs9904631	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16471200-16472800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr17:16471200-16472800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:16471200-16473000	Flanking Active TSS	Dnd41	blood
4	chr17:16471600-16472800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr17:16471600-16472800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr17:16471600-16472800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr17:16471600-16472800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr17:16471600-16472800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr17:16471600-16472800	Active TSS	Psoas Muscle	Psoas
10	chr17:16471600-16472800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr17:16471600-16472800	Active TSS	HSMMtube	muscle
12	chr17:16471600-16473000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr17:16471600-16473000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr17:16471600-16473600	Flanking Active TSS	GM12878-XiMat	blood
15	chr17:16471800-16472800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:16471800-16472800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr17:16471800-16472800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:16471800-16472800	Active TSS	Right Atrium	heart
19	chr17:16471800-16473000	Active TSS	Brain Angular Gyrus	brain
20	chr17:16471800-16473000	Active TSS	Brain Substantia Nigra	brain
21	chr17:16471800-16473200	Active TSS	Brain Anterior Caudate	brain
22	chr17:16471800-16473200	Active TSS	Brain Germinal Matrix	brain
23	chr17:16471800-16473200	Active TSS	Fetal Brain Female	brain
24	chr17:16471800-16473400	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr17:16472000-16472800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr17:16472000-16472800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr17:16472000-16472800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:16472000-16472800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:16472000-16472800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:16472000-16472800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr17:16472000-16472800	Active TSS	Rectal Smooth Muscle	rectum
32	chr17:16472000-16472800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr17:16472000-16473000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:16472000-16473000	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr17:16472000-16473000	Active TSS	Brain Hippocampus Middle	brain
36	chr17:16472000-16473000	Active TSS	Fetal Brain Male	brain
37	chr17:16472000-16473200	Active TSS	Brain Cingulate Gyrus	brain
38	chr17:16472200-16472800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr17:16472200-16472800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:16472200-16472800	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr17:16472200-16472800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:16472200-16472800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr17:16472200-16472800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr17:16472200-16472800	ZNF genes & repeats	Liver	Liver
45	chr17:16472200-16472800	Active TSS	Ovary	ovary
46	chr17:16472200-16472800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr17:16472200-16472800	Active TSS	Right Ventricle	heart
48	chr17:16472200-16472800	Active TSS	HSMM	muscle
49	chr17:16472200-16472800	Active TSS	NH-A	brain
50	chr17:16472200-16472800	Active TSS	NHLF	lung

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