Variant report

Variant	rs9916193
Chromosome Location	chr17:18057215-18057216
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr17:18056995-18057583	GM12878	blood:	n/a	chr17:18057377-18057389 chr17:18057430-18057442
2	MAZ	chr17:18057026-18057564	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:18056995-18057301	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr17:18056782-18057753	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr17:18057156-18057223	GM19240	blood:	n/a	n/a
6	CTCF	chr17:18057116-18057226	GM12892	blood:	n/a	n/a
7	IRF1	chr17:18057144-18057616	K562	blood:	n/a	chr17:18057372-18057386 chr17:18057427-18057441
8	SP1	chr17:18057025-18057614	H1-hESC	embryonic stem cell:	n/a	chr17:18057373-18057383 chr17:18057369-18057383 chr17:18057430-18057440 chr17:18057292-18057303 chr17:18057429-18057441 chr17:18057373-18057383 chr17:18057430-18057439 chr17:18057337-18057347 chr17:18057374-18057383 chr17:18057431-18057440 chr17:18057372-18057384 chr17:18057372-18057384 chr17:18057353-18057364 chr17:18057373-18057382 chr17:18057430-18057439 chr17:18057429-18057441 chr17:18057374-18057383 chr17:18057336-18057347 chr17:18057430-18057440
9	TBP	chr17:18056673-18057608	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr17:18056999-18057492	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr17:18056701-18057570	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr17:18057052-18057378	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr17:18057100-18057250	AG04449	skin:	n/a	n/a
14	CEBPB	chr17:18056804-18057664	IMR90	lung:	n/a	n/a
15	CTCF	chr17:18057132-18057224	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr17:18057203-18057565	HepG2	liver:	n/a	n/a
17	MAZ	chr17:18057047-18057560	K562	blood:	n/a	n/a
18	CTCF	chr17:18057131-18057251	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr17:18057140-18057290	HCM	heart:	n/a	n/a
20	CEBPB	chr17:18057202-18057628	MCF-7	breast:	n/a	n/a
21	CTCF	chr17:18057180-18057330	Caco-2	colon:	n/a	n/a
22	CTCF	chr17:18057080-18057230	AG04449	skin:	n/a	n/a
23	POLR2A	chr17:18056942-18057322	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr17:18057030-18057301	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr17:18057046-18057245	K562	blood:	n/a	n/a
26	JUND	chr17:18057042-18057698	K562	blood:	n/a	n/a
27	STAT3	chr17:18056965-18057244	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr17:18056958-18057223	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr17:18057023-18057335	ECC-1	luminal epithelium:	n/a	n/a
30	CTCF	chr17:18057160-18057310	HRE	kidney:	n/a	n/a
31	CTCF	chr17:18057120-18057270	HCPEpiC	choroid plexus:	n/a	n/a
32	JUND	chr17:18057030-18057685	H1-hESC	embryonic stem cell:	n/a	n/a
33	GTF2F1	chr17:18057071-18057306	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr17:18056912-18057230	H1-hESC	embryonic stem cell:	n/a	n/a
35	BRCA1	chr17:18057042-18057466	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr17:18056978-18057325	H1-hESC	embryonic stem cell:	n/a	n/a
37	MXI1	chr17:18057201-18057586	HepG2	liver:	n/a	n/a
38	MAZ	chr17:18056903-18057921	IMR90	lung:	n/a	n/a
39	POLR2A	chr17:18056910-18057372	HCT-116	colon:	n/a	n/a
40	POLR2A	chr17:18057010-18057367	HUVEC	blood vessel:	n/a	n/a
41	CEBPB	chr17:18056803-18057637	H1-hESC	embryonic stem cell:	n/a	n/a
42	NRF1	chr17:18057018-18057351	H1-hESC	embryonic stem cell:	n/a	n/a
43	NRF1	chr17:18056905-18057471	SK-N-SH	brain:	n/a	chr17:18057373-18057382
44	POLR2A	chr17:18056904-18057381	HCT-116	colon:	n/a	n/a
45	RAD21	chr17:18057187-18057496	H1-hESC	embryonic stem cell:	n/a	chr17:18057400-18057412 chr17:18057400-18057410
46	CTCF	chr17:18057100-18057250	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr17:18057140-18057290	HRE	kidney:	n/a	n/a
48	POLR2A	chr17:18056940-18057281	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAZ	chr17:18056972-18057514	HepG2	liver:	n/a	n/a
50	SPI1	chr17:18057175-18057476	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18057215-18057265	AG09319	gingival:	n/a
2	chr17:18057215-18057265	HIPEpiC	eye:	n/a
3	chr17:18057215-18057265	GM06990	blood:	n/a
4	chr17:18057215-18057265	ECC-1	luminal epithelium:	n/a
5	chr17:18057215-18057265	AG10803	skin:	n/a
6	chr17:18057215-18057265	HEEpiC	esophagus:	n/a
7	chr17:18057215-18057265	HAEpiC	amniotic membrane:	n/a
8	chr17:18057215-18057265	HRPEpiC	eye:	n/a
9	chr17:18057215-18057265	PFSK-1	brain:	n/a
10	chr17:18057215-18057265	SAEC	small airway:	n/a
11	chr17:18057215-18057265	Caco-2	colon:	n/a
12	chr17:18057215-18057265	HCT-116	colon:	n/a
13	chr17:18057215-18057265	HMEC	breast:	n/a
14	chr17:18057215-18057265	NHBE	bronchial:	n/a
15	chr17:18057215-18057265	U87	brain:	n/a
16	chr17:18057215-18057265	SKMC	muscle:	n/a
17	chr17:18057215-18057265	HL-60	blood:	n/a
18	chr17:18057215-18057265	MCF-7	breast:	n/a
19	chr17:18057215-18057265	ProgFib	skin:	n/a
20	chr17:18057215-18057265	AG04449	skin:	fetal
21	chr17:18057215-18057265	SK-N-SH_RA	brain:	n/a
22	chr17:18057215-18057265	LNCaP	prostate:	n/a
23	chr17:18057215-18057265	AoSMC	blood vessel:	n/a
24	chr17:18057215-18057265	RPTEC	kidney:	n/a
25	chr17:18057215-18057265	HCF	heart:	n/a
26	chr17:18057215-18057265	BE2_C	brain:	n/a
27	chr17:18057215-18057265	IMR90	lung:	fetal
28	chr17:18057215-18057265	AG04450	lung:	fetal
29	chr17:18057215-18057265	HCPEpiC	choroid plexus:	n/a
30	chr17:18057215-18057265	BJ	skin:	n/a
31	chr17:18057215-18057265	Hela-S3	cervix:	n/a
32	chr17:18057215-18057265	Jurkat	blood:	n/a
33	chr17:18057215-18057265	GM12892	blood:	n/a
34	chr17:18057215-18057265	NH-A	brain:	n/a
35	chr17:18057215-18057265	SK-N-MC	brain:	n/a
36	chr17:18057215-18057265	HEK293	kidney:	embryo
37	chr17:18057215-18057265	K562	blood:	n/a
38	chr17:18057215-18057265	HPAEpiC	pulmonary alveolar:	n/a
39	chr17:18057215-18057265	PrEC	prostate:	n/a
40	chr17:18057215-18057265	MCF10A-Er-Src	breast:	n/a
41	chr17:18057215-18057265	T-47D	breast:	n/a
42	chr17:18057215-18057265	Hepatocyte	liver:	n/a
43	chr17:18057215-18057265	HNPCEpiC	eye:	n/a
44	chr17:18057215-18057265	HRCEpiC	kidney:	n/a
45	chr17:18057215-18057265	NT2-D1	testis:	n/a
46	chr17:18057215-18057265	HUVEC	blood vessel:	n/a
47	chr17:18057215-18057265	SK-N-SH	brain:	n/a
48	chr17:18057215-18057265	A549	lung:	n/a
49	chr17:18057215-18057265	GM12878	blood:	n/a
50	chr17:18057215-18057265	NHDF-neo	bronchial:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:114999940..115000764-chr17:18056683..18057332,2	HCT-116	colon:
2	chr17:18042232..18044800-chr17:18055136..18057841,3	K562	blood:
3	chr17:18055989..18058847-chr17:18059352..18061809,2	K562	blood:
4	chr17:18056639..18059705-chr17:18061625..18064659,3	MCF-7	breast:

No data

Variant related genes	Relation type
MYO15A	TF binding region
MYO15A	CpG island
ENSG00000130177	Chromatin interaction
ENSG00000091536	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10048161	0.91[EUR][1000 genomes]
rs10451244	0.85[EUR][1000 genomes]
rs11078411	0.90[EUR][1000 genomes]
rs11078412	0.87[EUR][1000 genomes]
rs11652964	0.94[EUR][1000 genomes]
rs11653988	0.90[EUR][1000 genomes]
rs11654146	0.91[EUR][1000 genomes]
rs11654177	0.84[EUR][1000 genomes]
rs11654741	0.85[EUR][1000 genomes]
rs11655588	0.84[EUR][1000 genomes]
rs11655731	0.84[EUR][1000 genomes]
rs11655797	0.85[EUR][1000 genomes]
rs11656035	0.91[EUR][1000 genomes]
rs11657194	0.89[EUR][1000 genomes]
rs11658477	0.94[EUR][1000 genomes]
rs11868832	0.81[EUR][1000 genomes]
rs11868886	0.83[EUR][1000 genomes]
rs11871039	0.90[EUR][1000 genomes]
rs11871491	0.85[EUR][1000 genomes]
rs12600694	0.82[EUR][1000 genomes]
rs13284	0.85[EUR][1000 genomes]
rs1563371	0.85[EUR][1000 genomes]
rs1563373	0.85[EUR][1000 genomes]
rs16960980	0.88[EUR][1000 genomes]
rs16960983	0.88[EUR][1000 genomes]
rs16960986	0.84[EUR][1000 genomes]
rs16960990	0.84[EUR][1000 genomes]
rs16960996	0.85[EUR][1000 genomes]
rs2015336	0.91[EUR][1000 genomes]
rs28811342	0.84[EUR][1000 genomes]
rs3088233	0.85[EUR][1000 genomes]
rs34474249	0.91[EUR][1000 genomes]
rs36058389	0.84[EUR][1000 genomes]
rs55918833	0.90[EUR][1000 genomes]
rs58441148	0.85[EUR][1000 genomes]
rs59354912	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60285171	0.83[EUR][1000 genomes]
rs62072464	0.84[EUR][1000 genomes]
rs62072465	0.85[EUR][1000 genomes]
rs62072466	0.84[EUR][1000 genomes]
rs62072467	0.83[EUR][1000 genomes]
rs62072468	0.83[EUR][1000 genomes]
rs62072496	0.85[EUR][1000 genomes]
rs62072497	0.85[EUR][1000 genomes]
rs62072498	0.85[EUR][1000 genomes]
rs62072500	0.85[EUR][1000 genomes]
rs62073602	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62073603	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073604	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073605	0.92[EUR][1000 genomes]
rs62073606	0.92[EUR][1000 genomes]
rs62073607	0.87[EUR][1000 genomes]
rs62073608	0.93[EUR][1000 genomes]
rs62073609	0.92[EUR][1000 genomes]
rs62073611	0.91[EUR][1000 genomes]
rs62073615	0.88[EUR][1000 genomes]
rs62073649	0.91[EUR][1000 genomes]
rs62073650	0.90[EUR][1000 genomes]
rs6502640	0.85[EUR][1000 genomes]
rs7207276	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735960	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8065026	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8069094	0.88[EUR][1000 genomes]
rs8077577	0.93[EUR][1000 genomes]
rs997315	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907769	chr17:18000321-18064195	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv470580	chr17:18029857-18060192	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
11	nsv907772	chr17:18030524-18098018	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv510702	chr17:18037676-18116801	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18055400-18057600	Enhancers	Lung	lung
2	chr17:18055800-18057600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr17:18056000-18057400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr17:18056000-18057400	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr17:18056000-18057400	Active TSS	NHLF	lung
6	chr17:18056000-18057800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr17:18056000-18057800	Enhancers	Spleen	Spleen
8	chr17:18056200-18057400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr17:18056200-18057400	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr17:18056200-18057400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr17:18056200-18057400	Active TSS	Brain Cingulate Gyrus	brain
12	chr17:18056200-18057600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr17:18056200-18057600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr17:18056200-18057800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr17:18056400-18057400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr17:18056400-18057400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:18056400-18057400	Active TSS	Right Atrium	heart
18	chr17:18056400-18057600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:18056400-18057600	Active TSS	Brain Germinal Matrix	brain
20	chr17:18056400-18057800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:18056600-18057400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr17:18056600-18057400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:18056600-18057400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr17:18056600-18057400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr17:18056600-18057400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:18056600-18057400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:18056600-18057400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:18056600-18057400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:18056600-18057400	Active TSS	Adipose Nuclei	Adipose
30	chr17:18056600-18057400	Active TSS	Brain Angular Gyrus	brain
31	chr17:18056600-18057400	Active TSS	Brain Hippocampus Middle	brain
32	chr17:18056600-18057400	Active TSS	Fetal Brain Female	brain
33	chr17:18056600-18057400	Weak transcription	Fetal Heart	heart
34	chr17:18056600-18057400	Active TSS	Gastric	stomach
35	chr17:18056600-18057400	Active TSS	Placenta Amnion	Placenta Amnion
36	chr17:18056600-18057400	Active TSS	Psoas Muscle	Psoas
37	chr17:18056600-18057400	Active TSS	Right Ventricle	heart
38	chr17:18056600-18057400	Active TSS	HepG2	liver
39	chr17:18056600-18057400	Active TSS	HSMM	muscle
40	chr17:18056600-18057400	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr17:18056600-18057400	Active TSS	NHDF-Ad	bronchial
42	chr17:18056600-18057600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr17:18056600-18057600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr17:18056600-18057600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:18056600-18057600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr17:18056600-18057600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr17:18056600-18057600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr17:18056600-18057600	Active TSS	Rectal Smooth Muscle	rectum
49	chr17:18056600-18057800	Enhancers	Stomach Mucosa	stomach
50	chr17:18056600-18058800	Enhancers	Fetal Brain Male	brain

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