Variant report

Variant	rs9913705
Chromosome Location	chr17:60004928-60004929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:342)
CpG islands
(count:61)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr17:60004855-60005433	HepG2	liver:	n/a	n/a
2	MYC	chr17:60004440-60005525	K562	blood:	n/a	n/a
3	POLR2A	chr17:60004247-60005712	HepG2	liver:	n/a	n/a
4	TFAP2C	chr17:60004576-60005452	Hela-S3	cervix:	n/a	chr17:60004929-60004944
5	MYBL2	chr17:60004625-60005612	HepG2	liver:	n/a	n/a
6	POLR2A	chr17:60004605-60005640	MCF-7	breast:	n/a	n/a
7	TEAD4	chr17:60004525-60005853	A549	lung:	n/a	n/a
8	POLR2A	chr17:60004520-60005430	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYBL2	chr17:60004312-60005951	HepG2	liver:	n/a	n/a
10	YY1	chr17:60004914-60005591	SK-N-SH_RA	brain:	n/a	n/a
11	MAX	chr17:60004413-60005538	K562	blood:	n/a	n/a
12	CTCF	chr17:60004860-60005010	HEEpiC	esophagus:	n/a	n/a
13	MAX	chr17:60004520-60005648	ECC-1	luminal epithelium:	n/a	chr17:60005556-60005565
14	POLR2A	chr17:60004476-60005541	H1-hESC	embryonic stem cell:	n/a	n/a
15	HCFC1	chr17:60003695-60006237	Hela-S3	cervix:	n/a	n/a
16	HMGN3	chr17:60004922-60005505	K562	blood:	n/a	n/a
17	POLR2A	chr17:60004450-60005679	HCT-116	colon:	n/a	n/a
18	MBD4	chr17:60004394-60005773	HepG2	liver:	n/a	n/a
19	SIN3AK20	chr17:60004486-60005662	SK-N-SH	brain:	n/a	n/a
20	ATF3	chr17:60004736-60005530	A549	lung:	n/a	n/a
21	POLR2A	chr17:60004489-60005668	K562	blood:	n/a	n/a
22	TCF7L2	chr17:60004805-60005519	HCT-116	colon:	n/a	n/a
23	TAF1	chr17:60004494-60005647	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr17:60004279-60005823	HUVEC	blood vessel:	n/a	n/a
25	E2F6	chr17:60004752-60005632	K562	blood:	n/a	chr17:60005206-60005217 chr17:60005400-60005409 chr17:60005262-60005273
26	REST	chr17:60004353-60005757	H1-neurons	neurons:	n/a	chr17:60005506-60005514
27	TAF1	chr17:60004773-60005499	HepG2	liver:	n/a	n/a
28	SIN3AK20	chr17:60004629-60005609	PANC-1	pancreas:	n/a	n/a
29	CHD2	chr17:60004779-60005675	HepG2	liver:	n/a	n/a
30	GTF2F1	chr17:60004577-60005719	Hela-S3	cervix:	n/a	n/a
31	GTF2B	chr17:60004726-60005550	K562	blood:	n/a	n/a
32	MYC	chr17:60004728-60004955	MCF10A-Er-Src	breast:	n/a	n/a
33	MAX	chr17:60004409-60005604	ECC-1	luminal epithelium:	n/a	chr17:60005556-60005565
34	FOXM1	chr17:60004713-60005522	GM12878	blood:	n/a	n/a
35	ELF1	chr17:60004905-60005452	A549	lung:	n/a	n/a
36	REST	chr17:60004421-60005741	A549	lung:	n/a	chr17:60005506-60005514
37	RCOR1	chr17:60004433-60005757	K562	blood:	n/a	n/a
38	POLR2A	chr17:60004226-60005735	GM12891	blood:	n/a	n/a
39	POLR2A	chr17:60004657-60005697	U87	brain:	n/a	n/a
40	ZMIZ1	chr17:60004775-60005479	K562	blood:	n/a	n/a
41	POLR2A	chr17:60004537-60005561	K562	blood:	n/a	n/a
42	POLR2A	chr17:60004373-60005900	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr17:60004294-60005866	Raji	blood:	n/a	n/a
44	NFIC	chr17:60004709-60005694	HepG2	liver:	n/a	n/a
45	POLR2A	chr17:60004187-60005725	HepG2	liver:	n/a	n/a
46	POLR2A	chr17:60004213-60005699	H1-hESC	embryonic stem cell:	n/a	n/a
47	PML	chr17:60004653-60005533	K562	blood:	n/a	n/a
48	POLR2A	chr17:60004474-60005577	GM19193	blood:	n/a	n/a
49	YY1	chr17:60004779-60005460	GM12878	blood:	n/a	n/a
50	PML	chr17:60004817-60005493	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:60004914-60004964	AoSMC	blood vessel:	n/a
2	chr17:60004914-60004964	U87	brain:	n/a
3	chr17:60004914-60004964	Hela-S3	cervix:	n/a
4	chr17:60004914-60004964	HRE	kidney:	n/a
5	chr17:60004914-60004964	Caco-2	colon:	n/a
6	chr17:60004914-60004964	HCT-116	colon:	n/a
7	chr17:60004914-60004964	GM12892	blood:	n/a
8	chr17:60004914-60004964	GM12878	blood:	n/a
9	chr17:60004914-60004964	HEEpiC	esophagus:	n/a
10	chr17:60004914-60004964	K562	blood:	n/a
11	chr17:60004914-60004964	RPTEC	kidney:	n/a
12	chr17:60004914-60004964	IMR90	lung:	fetal
13	chr17:60004914-60004964	PrEC	prostate:	n/a
14	chr17:60004914-60004964	MCF-7	breast:	n/a
15	chr17:60004914-60004964	ProgFib	skin:	n/a
16	chr17:60004914-60004964	Jurkat	blood:	n/a
17	chr17:60004914-60004964	H1-hESC	embryonic stem cell:	embryo
18	chr17:60004914-60004964	NT2-D1	testis:	n/a
19	chr17:60004914-60004964	HMEC	breast:	n/a
20	chr17:60004914-60004964	SK-N-SH	brain:	n/a
21	chr17:60004914-60004964	NHBE	bronchial:	n/a
22	chr17:60004914-60004964	HUVEC	blood vessel:	n/a
23	chr17:60004914-60004964	ECC-1	luminal epithelium:	n/a
24	chr17:60004914-60004964	HAEpiC	amniotic membrane:	n/a
25	chr17:60004914-60004964	A549	lung:	n/a
26	chr17:60004914-60004964	HL-60	blood:	n/a
27	chr17:60004914-60004964	Hepatocyte	liver:	n/a
28	chr17:60004914-60004964	NHDF-neo	bronchial:	n/a
29	chr17:60004914-60004964	MCF10A-Er-Src	breast:	n/a
30	chr17:60004914-60004964	AG10803	skin:	n/a
31	chr17:60004914-60004964	ovcar-3	ovarian:	n/a
32	chr17:60004914-60004964	HPAEpiC	pulmonary alveolar:	n/a
33	chr17:60004914-60004964	NB4	blood:	n/a
34	chr17:60004914-60004964	HEK293	kidney:	embryo
35	chr17:60004914-60004964	SKMC	muscle:	n/a
36	chr17:60004914-60004964	HCPEpiC	choroid plexus:	n/a
37	chr17:60004914-60004964	SK-N-MC	brain:	n/a
38	chr17:60004914-60004964	HCM	heart:	n/a
39	chr17:60004914-60004964	BJ	skin:	n/a
40	chr17:60004914-60004964	SK-N-SH_RA	brain:	n/a
41	chr17:60004914-60004964	PANC-1	pancreas:	n/a
42	chr17:60004914-60004964	LNCaP	prostate:	n/a
43	chr17:60004914-60004964	HCF	heart:	n/a
44	chr17:60004914-60004964	NH-A	brain:	n/a
45	chr17:60004914-60004964	BE2_C	brain:	n/a
46	chr17:60004914-60004964	GM06990	blood:	n/a
47	chr17:60004914-60004964	HRCEpiC	kidney:	n/a
48	chr17:60004914-60004964	GM12891	blood:	n/a
49	chr17:60004914-60004964	GM19239	blood:	n/a
50	chr17:60004914-60004964	HNPCEpiC	eye:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:60003720..60006070-chr17:60032703..60035089,4	MCF-7	breast:
2	chr17:59487584..59490320-chr17:60003961..60006356,2	MCF-7	breast:
3	chr17:59967952..59972166-chr17:60003800..60006338,4	MCF-7	breast:
4	chr17:60004037..60006603-chr7:148892637..148894393,2	MCF-7	breast:
5	chr17:60004810..60005401-chr7:148823296..148824017,2	Hela-S3	cervix:
6	chr17:59939694..59942407-chr17:60003159..60006084,4	K562	blood:
7	chr17:60003458..60007739-chr17:60031552..60035376,4	MCF-7	breast:
8	chr17:59959753..59962989-chr17:60003686..60006854,4	MCF-7	breast:
9	chr1:206858266..206859149-chr17:60004563..60005538,2	Hela-S3	cervix:
10	chr17:60004211..60007034-chr17:60081016..60083481,3	MCF-7	breast:
11	chr17:59939106..59942463-chr17:60003505..60006582,4	MCF-7	breast:
12	chr17:56706908..56709348-chr17:60003487..60005418,2	MCF-7	breast:
13	chr17:60003486..60006277-chr17:60141285..60143515,2	K562	blood:
14	chr17:59949335..59951629-chr17:60003040..60005036,2	MCF-7	breast:
15	chr17:59939071..59942892-chr17:60002944..60006795,10	MCF-7	breast:
16	chr17:60004432..60006975-chrX:153598237..153599773,2	MCF-7	breast:
17	chr17:59939694..59942713-chr17:60003159..60007024,4	K562	blood:
18	chr17:60002473..60006196-chr17:60142332..60145548,5	MCF-7	breast:
19	chr17:60003987..60006563-chr6:30582839..30584974,2	MCF-7	breast:
20	chr16:70412278..70414486-chr17:60004606..60007094,2	MCF-7	breast:
21	chr17:59951279..59952912-chr17:60004615..60006533,2	MCF-7	breast:
22	chr17:60004093..60006287-chr20:45946322..45948164,2	MCF-7	breast:
23	chr17:60002671..60006640-chr17:60140695..60145461,16	MCF-7	breast:
24	chr17:60004589..60005322-chr4:99849474..99850261,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
INTS2	TF binding region
INTS2	CpG island
ENSG00000222894	Chromatin interaction
ENSG00000170265	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000197024	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000204947	Chromatin interaction
ENSG00000162889	Chromatin interaction
ENSG00000136492	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000108510	Chromatin interaction
ENSG00000242398	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000108506	Chromatin interaction
ENSG00000267882	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000202361	Chromatin interaction
ENSG00000196924	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2138005	1.00[AMR][1000 genomes]
rs59176712	1.00[AMR][1000 genomes]
rs7213469	0.82[LWK][hapmap];1.00[AMR][1000 genomes]
rs73991950	1.00[AMR][1000 genomes]
rs73991951	1.00[AMR][1000 genomes]
rs9900338	1.00[AMR][1000 genomes]
rs9900745	0.82[LWK][hapmap];1.00[AMR][1000 genomes]
rs9908729	1.00[AMR][1000 genomes]
rs9914236	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 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	chr17:60003800-60005600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr17:60003800-60005600	Active TSS	Fetal Kidney	kidney
3	chr17:60004000-60005400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr17:60004000-60005600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:60004000-60005600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:60004000-60005600	Active TSS	NHLF	lung
7	chr17:60004000-60005800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:60004000-60005800	Active TSS	Right Ventricle	heart
9	chr17:60004000-60006000	Active TSS	K562	blood
10	chr17:60004200-60005000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr17:60004200-60005000	Flanking Active TSS	Liver	Liver
12	chr17:60004200-60005400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:60004200-60005400	Active TSS	Fetal Stomach	stomach
14	chr17:60004200-60005400	Active TSS	Ovary	ovary
15	chr17:60004200-60005400	Active TSS	NHEK	skin
16	chr17:60004200-60005600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:60004200-60005600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:60004200-60005600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr17:60004200-60005600	Active TSS	HSMM	muscle
20	chr17:60004200-60005600	Active TSS	NHDF-Ad	bronchial
21	chr17:60004200-60005800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:60004200-60005800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr17:60004200-60005800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:60004200-60005800	Active TSS	Fetal Muscle Trunk	muscle
25	chr17:60004200-60005800	Active TSS	Psoas Muscle	Psoas
26	chr17:60004200-60005800	Active TSS	Right Atrium	heart
27	chr17:60004200-60006000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr17:60004200-60006200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr17:60004400-60005000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr17:60004400-60005000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr17:60004400-60005000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr17:60004400-60005000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr17:60004400-60005000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:60004400-60005400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr17:60004400-60005400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:60004400-60005400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr17:60004400-60005400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr17:60004400-60005400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:60004400-60005400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:60004400-60005400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr17:60004400-60005400	Active TSS	Aorta	Aorta
42	chr17:60004400-60005400	Active TSS	Esophagus	oesophagus
43	chr17:60004400-60005400	Active TSS	Gastric	stomach
44	chr17:60004400-60005400	Active TSS	Lung	lung
45	chr17:60004400-60005400	Active TSS	Pancreas	Pancrea
46	chr17:60004400-60005400	Active TSS	Hela-S3	cervix
47	chr17:60004400-60005400	Bivalent/Poised TSS	HepG2	liver
48	chr17:60004400-60005600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr17:60004400-60005600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:60004400-60005600	Active TSS	Duodenum Smooth Muscle	Duodenum

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