Variant report

Variant	rs73991963
Chromosome Location	chr17:60143006-60143007
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	ELF1	chr17:60142968-60143714	GM12878	blood:	n/a	chr17:60143053-60143065 chr17:60143060-60143069 chr17:60143422-60143431
2	TAF1	chr17:60142783-60143613	SK-N-SH	brain:	n/a	n/a
3	USF1	chr17:60142815-60143837	HCT-116	colon:	n/a	chr17:60143006-60143022 chr17:60143054-60143070 chr17:60143447-60143463
4	PAX5	chr17:60142959-60143571	GM12878	blood:	n/a	n/a
5	POLR2A	chr17:60140938-60143483	K562	blood:	n/a	n/a
6	POLR2A	chr17:60142788-60143729	SK-N-SH	brain:	n/a	n/a
7	STAT5A	chr17:60142728-60143677	GM12878	blood:	n/a	chr17:60143377-60143389 chr17:60142930-60142938 chr17:60143612-60143623
8	CEBPB	chr17:60142852-60143052	HepG2	liver:	n/a	chr17:60142930-60142939 chr17:60142930-60142941
9	POLR2A	chr17:60142955-60143422	HepG2	liver:	n/a	n/a
10	YY1	chr17:60142766-60143626	GM12891	blood:	n/a	chr17:60143061-60143072 chr17:60143422-60143431 chr17:60143441-60143455 chr17:60143296-60143306
11	HEY1	chr17:60142687-60143534	K562	blood:	n/a	chr17:60143056-60143071
12	POLR2A	chr17:60142909-60143521	SK-N-MC	brain:	n/a	n/a
13	CHD1	chr17:60142825-60143333	H1-hESC	embryonic stem cell:	n/a	n/a
14	BHLHE40	chr17:60142964-60143620	HepG2	liver:	n/a	chr17:60143006-60143022 chr17:60143054-60143070 chr17:60143447-60143463
15	CTCF	chr17:60142769-60145592	A549	lung:	n/a	chr17:60143469-60143490 chr17:60145380-60145398 chr17:60143451-60143464 chr17:60143476-60143489 chr17:60143474-60143492 chr17:60143475-60143491 chr17:60144727-60144735 chr17:60145382-60145403 chr17:60143476-60143489
16	CTCF	chr17:60142854-60143841	MCF-7	breast:	n/a	chr17:60143469-60143490 chr17:60143451-60143464 chr17:60143476-60143489 chr17:60143474-60143492 chr17:60143475-60143491 chr17:60143476-60143489
17	YY1	chr17:60142728-60143576	H1-hESC	embryonic stem cell:	n/a	chr17:60143061-60143072 chr17:60143422-60143431 chr17:60143441-60143455 chr17:60143296-60143306
18	POLR2A	chr17:60142829-60143682	GM12892	blood:	n/a	n/a
19	POLR2A	chr17:60142959-60143479	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr17:60142768-60143589	GM12878	blood:	n/a	n/a
21	USF1	chr17:60142924-60143702	A549	lung:	n/a	chr17:60143006-60143022 chr17:60143054-60143070 chr17:60143447-60143463
22	YY1	chr17:60142916-60143526	GM12892	blood:	n/a	chr17:60143061-60143072 chr17:60143422-60143431 chr17:60143441-60143455 chr17:60143296-60143306
23	POLR2A	chr17:60142974-60143457	SK-N-SH	brain:	n/a	n/a
24	MAZ	chr17:60142024-60144003	GM12878	blood:	n/a	chr17:60143353-60143364 chr17:60143354-60143363 chr17:60143356-60143365 chr17:60143352-60143365
25	CHD1	chr17:60141172-60143663	GM12878	blood:	n/a	n/a
26	POLR2A	chr17:60142899-60143643	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr17:60142754-60143756	HCT-116	colon:	n/a	n/a
28	YY1	chr17:60142758-60143613	HepG2	liver:	n/a	chr17:60143061-60143072 chr17:60143422-60143431 chr17:60143441-60143455 chr17:60143296-60143306
29	POLR2A	chr17:60142813-60143567	Gliobla	brain:	n/a	n/a
30	YY1	chr17:60142871-60143517	GM12891	blood:	n/a	chr17:60143061-60143072 chr17:60143422-60143431 chr17:60143441-60143455 chr17:60143296-60143306
31	RELA	chr17:60143002-60143811	GM19099	blood:	n/a	chr17:60143279-60143288 chr17:60143279-60143288
32	MAX	chr17:60142914-60143657	ECC-1	luminal epithelium:	n/a	chr17:60143353-60143364 chr17:60143354-60143363 chr17:60143356-60143365 chr17:60143352-60143365
33	USF1	chr17:60142942-60143542	K562	blood:	n/a	chr17:60143006-60143022 chr17:60143054-60143070 chr17:60143447-60143463
34	POLR2A	chr17:60142878-60143582	U87	brain:	n/a	n/a
35	SIN3AK20	chr17:60142956-60143572	HepG2	liver:	n/a	n/a
36	MAX	chr17:60142781-60143634	K562	blood:	n/a	chr17:60143353-60143364 chr17:60143354-60143363 chr17:60143356-60143365 chr17:60143352-60143365
37	POLR2A	chr17:60142941-60143460	GM12892	blood:	n/a	n/a
38	POLR2A	chr17:60142677-60143490	GM12878	blood:	n/a	n/a
39	RFX5	chr17:60142881-60143680	Hela-S3	cervix:	n/a	n/a
40	MYBL2	chr17:60142997-60143842	HepG2	liver:	n/a	n/a
41	YY1	chr17:60142880-60143606	ECC-1	luminal epithelium:	n/a	chr17:60143061-60143072 chr17:60143422-60143431 chr17:60143441-60143455 chr17:60143296-60143306
42	POLR2A	chr17:60142779-60143547	ECC-1	luminal epithelium:	n/a	n/a
43	ATF3	chr17:60142976-60143680	A549	lung:	n/a	chr17:60143343-60143363
44	MYC	chr17:60142953-60143547	MCF-7	breast:	n/a	chr17:60143353-60143364 chr17:60143354-60143363 chr17:60143356-60143365 chr17:60143352-60143365
45	CTCF	chr17:60141371-60144094	SK-N-SH	brain:	n/a	chr17:60143469-60143490 chr17:60143451-60143464 chr17:60143476-60143489 chr17:60143474-60143492 chr17:60143475-60143491 chr17:60142377-60142390 chr17:60143476-60143489
46	POLR2A	chr17:60142763-60143590	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAZ	chr17:60141578-60143798	IMR90	lung:	n/a	chr17:60143353-60143364 chr17:60143354-60143363 chr17:60143356-60143365 chr17:60143352-60143365
48	MAX	chr17:60142965-60143617	H1-hESC	embryonic stem cell:	n/a	chr17:60143353-60143364 chr17:60143354-60143363 chr17:60143356-60143365 chr17:60143352-60143365
49	YY1	chr17:60142832-60143569	HepG2	liver:	n/a	chr17:60143061-60143072 chr17:60143422-60143431 chr17:60143441-60143455 chr17:60143296-60143306
50	RAD21	chr17:60142915-60143753	MCF-7	breast:	n/a	chr17:60143450-60143463 chr17:60143472-60143491 chr17:60143241-60143253 chr17:60143476-60143490 chr17:60143451-60143465

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:60142985-60143035	A549	lung:	n/a
2	chr17:60142985-60143035	U87	brain:	n/a
3	chr17:60142985-60143035	RPTEC	kidney:	n/a
4	chr17:60142985-60143035	SK-N-MC	brain:	n/a
5	chr17:60142985-60143035	CMK	blood:	n/a
6	chr17:60142985-60143035	HCT-116	colon:	n/a
7	chr17:60142985-60143035	GM12891	blood:	n/a
8	chr17:60142985-60143035	AG10803	skin:	n/a
9	chr17:60142985-60143035	HCF	heart:	n/a
10	chr17:60142985-60143035	HEEpiC	esophagus:	n/a
11	chr17:60142985-60143035	GM19239	blood:	n/a
12	chr17:60142985-60143035	LNCaP	prostate:	n/a
13	chr17:60142985-60143035	BJ	skin:	n/a
14	chr17:60142985-60143035	GM06990	blood:	n/a
15	chr17:60142985-60143035	AG04450	lung:	fetal
16	chr17:60142985-60143035	GM12892	blood:	n/a
17	chr17:60142985-60143035	NHBE	bronchial:	n/a
18	chr17:60142985-60143035	NH-A	brain:	n/a
19	chr17:60142985-60143035	ProgFib	skin:	n/a
20	chr17:60142985-60143035	HCM	heart:	n/a
21	chr17:60142985-60143035	IMR90	lung:	fetal
22	chr17:60142985-60143035	NHDF-neo	bronchial:	n/a
23	chr17:60142985-60143035	HPAEpiC	pulmonary alveolar:	n/a
24	chr17:60142985-60143035	PFSK-1	brain:	n/a
25	chr17:60142985-60143035	SAEC	small airway:	n/a
26	chr17:60142985-60143035	SK-N-SH	brain:	n/a
27	chr17:60142985-60143035	Hela-S3	cervix:	n/a
28	chr17:60142985-60143035	PANC-1	pancreas:	n/a
29	chr17:60142985-60143035	ECC-1	luminal epithelium:	n/a
30	chr17:60142985-60143035	AG04449	skin:	fetal
31	chr17:60142985-60143035	AoSMC	blood vessel:	n/a
32	chr17:60142985-60143035	HRPEpiC	eye:	n/a
33	chr17:60142985-60143035	H1-hESC	embryonic stem cell:	embryo
34	chr17:60142985-60143035	MCF10A-Er-Src	breast:	n/a
35	chr17:60142985-60143035	HAEpiC	amniotic membrane:	n/a
36	chr17:60142985-60143035	HL-60	blood:	n/a
37	chr17:60142985-60143035	HNPCEpiC	eye:	n/a
38	chr17:60142985-60143035	AG09319	gingival:	n/a
39	chr17:60142985-60143035	K562	blood:	n/a
40	chr17:60142985-60143035	NT2-D1	testis:	n/a
41	chr17:60142985-60143035	T-47D	breast:	n/a
42	chr17:60142985-60143035	SKMC	muscle:	n/a
43	chr17:60142985-60143035	HRE	kidney:	n/a
44	chr17:60142985-60143035	HRCEpiC	kidney:	n/a
45	chr17:60142985-60143035	MCF-7	breast:	n/a
46	chr17:60142985-60143035	GM12878	blood:	n/a
47	chr17:60142985-60143035	ovcar-3	ovarian:	n/a
48	chr17:60142985-60143035	Caco-2	colon:	n/a
49	chr17:60142985-60143035	Jurkat	blood:	n/a
50	chr17:60142985-60143035	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:121484522..121485402-chr17:60142850..60143490,2	NB4	blood:
2	chr17:60142514..60143325-chr20:32581470..32582227,2	HCT-116	colon:
3	chr17:60032435..60034452-chr17:60142134..60143728,2	MCF-7	breast:
4	chr17:60002671..60006640-chr17:60140695..60145461,16	MCF-7	breast:
5	chr1:36025870..36028585-chr17:60142680..60144549,2	MCF-7	breast:
6	chr17:59936983..59940866-chr17:60141087..60143647,5	MCF-7	breast:
7	chr17:59938249..59942766-chr17:60140265..60145745,10	MCF-7	breast:
8	chr17:60141749..60144598-chr8:97272082..97274829,2	MCF-7	breast:
9	chr17:60003486..60006277-chr17:60141285..60143515,2	K562	blood:
10	chr17:60109100..60115940-chr17:60139087..60144589,10	MCF-7	breast:
11	chr11:62608237..62609844-chr17:60142013..60143811,2	MCF-7	breast:
12	chr17:60002473..60006196-chr17:60142332..60145548,5	MCF-7	breast:
13	chr1:149856465..149858379-chr17:60141734..60144572,2	MCF-7	breast:
14	chr17:59938976..59941909-chr17:60142630..60144812,2	K562	blood:
15	chr17:60105875..60108705-chr17:60141999..60144284,3	MCF-7	breast:
16	chr17:59489475..59489999-chr17:60142951..60143861,2	MCF-7	breast:
17	chr17:60107282..60111118-chr17:60141035..60143494,4	MCF-7	breast:

Variant related genes	Relation type
MED13	TF binding region
MED13	CpG island
ENSG00000228265	Chromatin interaction
ENSG00000125970	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000156471	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000108510	Chromatin interaction
ENSG00000108506	Chromatin interaction
ENSG00000200842	Chromatin interaction
ENSG00000020129	Chromatin interaction
ENSG00000156469	Chromatin interaction
ENSG00000136492	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16945796	0.80[AFR][1000 genomes]
rs16945866	1.00[AMR][1000 genomes]
rs28435233	0.85[AFR][1000 genomes]
rs28442160	0.83[AFR][1000 genomes]
rs28670441	1.00[AMR][1000 genomes]
rs4968411	1.00[AMR][1000 genomes]
rs4968482	1.00[AMR][1000 genomes]
rs7212697	1.00[AMR][1000 genomes]
rs7214601	0.85[AFR][1000 genomes]
rs9747362	0.81[AFR][1000 genomes]
rs9893675	0.85[AFR][1000 genomes]
rs9897713	1.00[AMR][1000 genomes]
rs9899173	1.00[AMR][1000 genomes]
rs9900110	1.00[AMR][1000 genomes]
rs9905100	1.00[AMR][1000 genomes]
rs9907962	1.00[AMR][1000 genomes]
rs9910074	1.00[AMR][1000 genomes]
rs9910165	0.81[AFR][1000 genomes]
rs9916776	0.85[AFR][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	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 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	chr17:60139400-60143400	Active TSS	GM12878-XiMat	blood
2	chr17:60139800-60143400	Active TSS	Aorta	Aorta
3	chr17:60139800-60143400	Active TSS	Colonic Mucosa	Colon
4	chr17:60140000-60143400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr17:60140000-60143400	Active TSS	Ovary	ovary
6	chr17:60140000-60143400	Active TSS	Right Atrium	heart
7	chr17:60140000-60143600	Active TSS	Stomach Smooth Muscle	stomach
8	chr17:60140200-60143400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr17:60140200-60143400	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr17:60140200-60143400	Active TSS	Thymus	Thymus
11	chr17:60140400-60143400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:60140400-60143600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:60140400-60143800	Active TSS	NHLF	lung
14	chr17:60140600-60143400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:60140600-60143400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:60140600-60143400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:60140600-60143400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr17:60140600-60143400	Active TSS	Colon Smooth Muscle	Colon
19	chr17:60140600-60143400	Active TSS	Fetal Thymus	thymus
20	chr17:60140600-60143400	Active TSS	Psoas Muscle	Psoas
21	chr17:60140600-60143400	Active TSS	Right Ventricle	heart
22	chr17:60140600-60143400	Active TSS	NH-A	brain
23	chr17:60140600-60143600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr17:60140600-60143600	Active TSS	Duodenum Mucosa	Duodenum
25	chr17:60140600-60143600	Active TSS	Fetal Muscle Leg	muscle
26	chr17:60140600-60143600	Active TSS	Fetal Stomach	stomach
27	chr17:60140600-60143600	Active TSS	K562	blood
28	chr17:60140600-60143800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:60140800-60143400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:60140800-60143400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:60140800-60143400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:60140800-60143400	Active TSS	Primary T cells fromperipheralblood	blood
33	chr17:60140800-60143400	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr17:60140800-60143400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr17:60140800-60143400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr17:60140800-60143400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr17:60140800-60143400	Active TSS	Fetal Brain Male	brain
38	chr17:60140800-60143400	Active TSS	Fetal Intestine Large	intestine
39	chr17:60140800-60143400	Active TSS	Fetal Intestine Small	intestine
40	chr17:60140800-60143400	Active TSS	HMEC	breast
41	chr17:60140800-60143400	Active TSS	HSMM	muscle
42	chr17:60140800-60143400	Active TSS	NHDF-Ad	bronchial
43	chr17:60140800-60143400	Active TSS	NHEK	skin
44	chr17:60140800-60143600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr17:60140800-60143800	Active TSS	Fetal Kidney	kidney
46	chr17:60141000-60143400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr17:60141000-60143400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr17:60141000-60143400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:60141000-60143400	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr17:60141000-60143400	Active TSS	Pancreatic Islets	Pancreatic Islet

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