Variant report

Variant	rs572992458
Chromosome Location	chr17:16255631-16255632
allele	A/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	HEY1	chr17:16255452-16256261	HepG2	liver:	n/a	chr17:16256148-16256163 chr17:16256153-16256168
2	SIN3A	chr17:16255316-16257170	H1-hESC	embryonic stem cell:	n/a	chr17:16256156-16256167 chr17:16256967-16256980 chr17:16256920-16256931
3	POLR2A	chr17:16255396-16256017	GM12892	blood:	n/a	n/a
4	PML	chr17:16255572-16256134	GM12878	blood:	n/a	chr17:16255956-16255964
5	SMC3	chr17:16255504-16255702	GM12878	blood:	n/a	n/a
6	TAF1	chr17:16255623-16255931	HepG2	liver:	n/a	n/a
7	CTCF	chr17:16255540-16255690	HAc	cerebellar:	n/a	n/a
8	MAZ	chr17:16255598-16256154	HepG2	liver:	n/a	chr17:16255917-16255924
9	MAX	chr17:16255128-16257457	A549	lung:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
10	POLR2A	chr17:16255451-16256325	HepG2	liver:	n/a	n/a
11	POLR2A	chr17:16255463-16257214	H1-neurons	neurons:	n/a	n/a
12	BACH1	chr17:16255486-16256213	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr17:16254999-16257367	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr17:16255505-16256476	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr17:16255212-16255957	Hela-S3	cervix:	n/a	chr17:16255407-16255418 chr17:16255407-16255420
16	MTA3	chr17:16255443-16256094	GM12878	blood:	n/a	n/a
17	TAF1	chr17:16255445-16257246	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr17:16255495-16257149	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr17:16255600-16256035	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF7	chr17:16255292-16255762	H1-hESC	embryonic stem cell:	n/a	n/a
21	FOXM1	chr17:16255626-16256057	GM12878	blood:	n/a	n/a
22	MYBL2	chr17:16255559-16256079	HepG2	liver:	n/a	n/a
23	POLR2A	chr17:16255483-16256452	H1-hESC	embryonic stem cell:	n/a	n/a
24	HA-E2F1	chr17:16255549-16256175	MCF-7	breast:	n/a	chr17:16255763-16255777 chr17:16255733-16255742 chr17:16255734-16255744 chr17:16256085-16256099 chr17:16256159-16256168
25	RFX5	chr17:16255216-16256011	Hela-S3	cervix:	n/a	n/a
26	RCOR1	chr17:16255607-16255997	HepG2	liver:	n/a	n/a
27	E2F6	chr17:16255608-16255832	K562	blood:	n/a	chr17:16255763-16255777 chr17:16255733-16255742 chr17:16255734-16255744
28	SIN3AK20	chr17:16255619-16255947	HepG2	liver:	n/a	n/a
29	HA-E2F1	chr17:16255566-16257091	Hela-S3	cervix:	n/a	chr17:16256243-16256250 chr17:16256243-16256254 chr17:16256243-16256254 chr17:16255763-16255777 chr17:16255733-16255742 chr17:16255734-16255744 chr17:16256085-16256099 chr17:16256159-16256168
30	CTCF	chr17:16255500-16255650	AG09319	gingival:	n/a	n/a
31	CTCF	chr17:16255560-16255710	AoAF	blood vessel:	n/a	n/a
32	TCF7L2	chr17:16255518-16257074	HCT-116	colon:	n/a	n/a
33	MAX	chr17:16255528-16257062	NB4	blood:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
34	SMARCB1	chr17:16255511-16257255	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr17:16255580-16255730	AG09309	skin:	n/a	n/a
36	POLR2A	chr17:16255447-16257125	K562	blood:	n/a	n/a
37	POLR2A	chr17:16255384-16257144	Hela-S3	cervix:	n/a	n/a
38	SIN3AK20	chr17:16255585-16255865	K562	blood:	n/a	n/a
39	RCOR1	chr17:16255600-16255784	GM12878	blood:	n/a	n/a
40	CHD2	chr17:16255595-16256254	Hela-S3	cervix:	n/a	chr17:16256243-16256250 chr17:16256199-16256209 chr17:16256152-16256162
41	TCF7L2	chr17:16255420-16256373	Hela-S3	cervix:	n/a	n/a
42	MBD4	chr17:16255569-16256000	HepG2	liver:	n/a	n/a
43	GTF2F1	chr17:16255296-16256054	Hela-S3	cervix:	n/a	n/a
44	TCF12	chr17:16255132-16257371	A549	lung:	n/a	chr17:16255923-16255932
45	MYC	chr17:16255601-16257020	K562	blood:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
46	POLR2A	chr17:16255475-16256948	Hela-S3	cervix:	n/a	n/a
47	YY1	chr17:16255565-16255858	HepG2	liver:	n/a	chr17:16255736-16255745 chr17:16255733-16255742 chr17:16255733-16255744
48	CREB1	chr17:16255454-16256324	HepG2	liver:	n/a	n/a
49	TAF1	chr17:16255437-16256541	A549	lung:	n/a	n/a
50	MAX	chr17:16255498-16257404	H1-hESC	embryonic stem cell:	n/a	chr17:16255915-16255925 chr17:16255917-16255924

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16255619-16255669	Hepatocyte	liver:	n/a
2	chr17:16255619-16255669	HMEC	breast:	n/a
3	chr17:16255619-16255669	HCM	heart:	n/a
4	chr17:16255619-16255669	AG04450	lung:	fetal
5	chr17:16255619-16255669	NB4	blood:	n/a
6	chr17:16255619-16255669	HCPEpiC	choroid plexus:	n/a
7	chr17:16255619-16255669	HRE	kidney:	n/a
8	chr17:16255619-16255669	AG09309	skin:	n/a
9	chr17:16255619-16255669	GM19239	blood:	n/a
10	chr17:16255619-16255669	HRPEpiC	eye:	n/a
11	chr17:16255619-16255669	T-47D	breast:	n/a
12	chr17:16255619-16255669	AoSMC	blood vessel:	n/a
13	chr17:16255619-16255669	AG10803	skin:	n/a
14	chr17:16255619-16255669	HIPEpiC	eye:	n/a
15	chr17:16255619-16255669	GM12891	blood:	n/a
16	chr17:16255619-16255669	HCT-116	colon:	n/a
17	chr17:16255619-16255669	SK-N-MC	brain:	n/a
18	chr17:16255619-16255669	HEEpiC	esophagus:	n/a
19	chr17:16255619-16255669	CMK	blood:	n/a
20	chr17:16255619-16255669	Jurkat	blood:	n/a
21	chr17:16255619-16255669	GM06990	blood:	n/a
22	chr17:16255619-16255669	U87	brain:	n/a
23	chr17:16255619-16255669	SK-N-SH_RA	brain:	n/a
24	chr17:16255619-16255669	Hela-S3	cervix:	n/a
25	chr17:16255619-16255669	AG09319	gingival:	n/a
26	chr17:16255619-16255669	BE2_C	brain:	n/a
27	chr17:16255619-16255669	IMR90	lung:	fetal
28	chr17:16255619-16255669	MCF-7	breast:	n/a
29	chr17:16255619-16255669	GM12878	blood:	n/a
30	chr17:16255619-16255669	SK-N-SH	brain:	n/a
31	chr17:16255619-16255669	PrEC	prostate:	n/a
32	chr17:16255619-16255669	HCF	heart:	n/a
33	chr17:16255619-16255669	LNCaP	prostate:	n/a
34	chr17:16255619-16255669	HL-60	blood:	n/a
35	chr17:16255619-16255669	HNPCEpiC	eye:	n/a
36	chr17:16255619-16255669	H1-hESC	embryonic stem cell:	embryo
37	chr17:16255619-16255669	SAEC	small airway:	n/a
38	chr17:16255619-16255669	PANC-1	pancreas:	n/a
39	chr17:16255619-16255669	NHDF-neo	bronchial:	n/a
40	chr17:16255619-16255669	K562	blood:	n/a
41	chr17:16255619-16255669	BJ	skin:	n/a
42	chr17:16255619-16255669	PFSK-1	brain:	n/a
43	chr17:16255619-16255669	A549	lung:	n/a
44	chr17:16255619-16255669	NHBE	bronchial:	n/a
45	chr17:16255619-16255669	HPAEpiC	pulmonary alveolar:	n/a
46	chr17:16255619-16255669	ProgFib	skin:	n/a
47	chr17:16255619-16255669	HEK293	kidney:	embryo
48	chr17:16255619-16255669	Caco-2	colon:	n/a
49	chr17:16255619-16255669	NT2-D1	testis:	n/a
50	chr17:16255619-16255669	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:16220122..16222963-chr17:16255326..16257269,2	MCF-7	breast:
2	chr17:16255039..16258110-chr17:16282983..16285810,6	K562	blood:
3	chr17:16255579..16258175-chr17:16317390..16320464,4	K562	blood:
4	chr17:16255603..16256214-chr17:78120426..78120928,2	Hela-S3	cervix:
5	chr17:16255429..16259810-chr17:16283456..16285929,5	K562	blood:
6	chr17:16254441..16256330-chr17:16335664..16338333,2	K562	blood:
7	chr17:16255579..16257907-chr17:16317390..16319077,3	K562	blood:
8	chr17:16117873..16120120-chr17:16255453..16257553,2	MCF-7	breast:
9	chr17:16254890..16255689-chr17:59860995..59861816,2	MCF-7	breast:
10	chr17:16255365..16257267-chr17:16344110..16346155,2	K562	blood:
11	chr17:16118960..16120810-chr17:16254534..16257203,3	K562	blood:
12	chr17:16254878..16257710-chr17:16340945..16342947,3	K562	blood:
13	chr17:16255208..16258130-chr17:16282843..16284827,3	MCF-7	breast:
14	chr17:16254424..16256101-chr17:16267326..16269115,2	K562	blood:

Variant related genes	Relation type
CENPV	TF binding region
CENPV	CpG island
ENSG00000170315	Chromatin interaction
ENSG00000266651	Chromatin interaction
ENSG00000264739	Chromatin interaction
ENSG00000187688	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000141027	Chromatin interaction
ENSG00000108474	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv962266	chr17:16245920-16260306	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv827903	chr17:16251979-16283760	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1065254	chr17:16252880-16389930	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
11	esv3329403	chr17:16255252-16258100	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16254400-16255800	Flanking Active TSS	Dnd41	blood
2	chr17:16254400-16257200	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr17:16254600-16255800	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr17:16254600-16257000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr17:16254600-16257000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:16254600-16257000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:16254600-16257000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr17:16254600-16257000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr17:16254600-16257000	Active TSS	K562	blood
10	chr17:16254600-16257400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:16254800-16257000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:16254800-16257200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr17:16254800-16257400	Active TSS	Fetal Brain Female	brain
14	chr17:16255000-16256000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr17:16255000-16256000	Flanking Active TSS	HUVEC	blood vessel
16	chr17:16255000-16256000	Flanking Active TSS	Osteobl	bone
17	chr17:16255000-16256200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr17:16255000-16256200	Active TSS	Fetal Brain Male	brain
19	chr17:16255000-16257200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr17:16255000-16257200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr17:16255000-16257200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:16255000-16257400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr17:16255000-16257400	Active TSS	Brain Angular Gyrus	brain
24	chr17:16255000-16257400	Active TSS	NH-A	brain
25	chr17:16255000-16257400	Active TSS	NHLF	lung
26	chr17:16255200-16255800	Bivalent Enhancer	Fetal Heart	heart
27	chr17:16255200-16255800	Flanking Active TSS	Thymus	Thymus
28	chr17:16255200-16256000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr17:16255200-16256000	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr17:16255200-16256000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr17:16255200-16256200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:16255200-16256200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr17:16255200-16256200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:16255200-16256200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr17:16255200-16256200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:16255200-16256200	Flanking Active TSS	Liver	Liver
37	chr17:16255200-16256200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr17:16255200-16256400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr17:16255200-16256400	Flanking Active TSS	HMEC	breast
40	chr17:16255200-16256800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr17:16255200-16256800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr17:16255200-16256800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr17:16255200-16257000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr17:16255200-16257000	Active TSS	Psoas Muscle	Psoas
45	chr17:16255200-16257000	Active TSS	A549	lung
46	chr17:16255200-16257200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:16255200-16257200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr17:16255200-16257200	Active TSS	Aorta	Aorta
49	chr17:16255200-16257400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr17:16255200-16257400	Active TSS	Brain Germinal Matrix	brain

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