Variant report

Variant	rs544397573
Chromosome Location	chr17:19551914-19551915
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	CEBPB	chr17:19550280-19552716	Hela-S3	cervix:	n/a	n/a
2	TAF1	chr17:19550856-19552694	A549	lung:	n/a	n/a
3	CTCF	chr17:19551900-19552050	GM12871	blood:	n/a	n/a
4	CREB1	chr17:19551831-19552230	A549	lung:	n/a	n/a
5	TAF1	chr17:19551773-19552413	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr17:19551187-19552398	GM12892	blood:	n/a	n/a
7	YY1	chr17:19551179-19552610	A549	lung:	n/a	chr17:19551692-19551702 chr17:19551972-19551986 chr17:19551887-19551896 chr17:19551887-19551898 chr17:19551669-19551685 chr17:19551672-19551681 chr17:19551915-19551926 chr17:19551890-19551899
8	GATA3	chr17:19551826-19552635	MCF-7	breast:	n/a	n/a
9	POLR2A	chr17:19551172-19552400	HUVEC	blood vessel:	n/a	n/a
10	HDAC2	chr17:19551675-19552527	HepG2	liver:	n/a	chr17:19551987-19551996
11	SP1	chr17:19550182-19552628	A549	lung:	n/a	chr17:19551974-19551986 chr17:19551975-19551984 chr17:19551971-19551985 chr17:19552030-19552051 chr17:19551974-19551986
12	TCF12	chr17:19551100-19552566	A549	lung:	n/a	n/a
13	MAX	chr17:19550054-19552808	A549	lung:	n/a	chr17:19551975-19551985 chr17:19552017-19552026 chr17:19551987-19551996 chr17:19552014-19552025 chr17:19552015-19552024
14	CTCF	chr17:19551800-19551950	AG10803	skin:	n/a	chr17:19551893-19551903 chr17:19551892-19551905
15	SMC3	chr17:19550185-19552968	Hela-S3	cervix:	n/a	chr17:19551892-19551902
16	POLR2A	chr17:19551121-19552463	HCT-116	colon:	n/a	n/a
17	POLR2A	chr17:19551241-19552680	Hela-S3	cervix:	n/a	n/a
18	SMARCC1	chr17:19550155-19552584	Hela-S3	cervix:	n/a	n/a
19	PML	chr17:19551320-19552531	GM12878	blood:	n/a	n/a
20	YY1	chr17:19551258-19552590	SK-N-SH_RA	brain:	n/a	chr17:19551692-19551702 chr17:19551972-19551986 chr17:19551887-19551896 chr17:19551887-19551898 chr17:19551669-19551685 chr17:19551672-19551681 chr17:19551915-19551926 chr17:19551890-19551899
21	POLR2A	chr17:19551275-19552523	GM15510	blood:	n/a	n/a
22	FOXA1	chr17:19551522-19552575	HepG2	liver:	n/a	n/a
23	USF1	chr17:19551844-19552208	K562	blood:	n/a	n/a
24	HNF4G	chr17:19551890-19552490	HepG2	liver:	n/a	n/a
25	TAF1	chr17:19551166-19552579	Hela-S3	cervix:	n/a	n/a
26	EBF1	chr17:19551186-19552251	GM12878	blood:	n/a	chr17:19551558-19551569
27	NR3C1	chr17:19551180-19552541	A549	lung:	n/a	chr17:19551850-19551857
28	POLR2A	chr17:19551425-19552631	HEK293	kidney:	n/a	n/a
29	PBX3	chr17:19551666-19552596	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr17:19551190-19552537	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr17:19551282-19552518	GM12878	blood:	n/a	n/a
32	USF1	chr17:19551227-19552594	ECC-1	luminal epithelium:	n/a	n/a
33	MYC	chr17:19551875-19552892	MCF10A-Er-Src	breast:	n/a	chr17:19551975-19551985 chr17:19552017-19552026 chr17:19551987-19551996 chr17:19552014-19552025 chr17:19552015-19552024
34	POLR2A	chr17:19550359-19552426	PANC-1	pancreas:	n/a	n/a
35	EP300	chr17:19551457-19552524	HepG2	liver:	n/a	chr17:19551910-19551926 chr17:19551890-19551899 chr17:19551833-19551849 chr17:19551979-19551988
36	POLR2A	chr17:19551160-19552594	HepG2	liver:	n/a	n/a
37	RFX5	chr17:19551869-19552484	HepG2	liver:	n/a	n/a
38	HEY1	chr17:19550694-19552690	HepG2	liver:	n/a	chr17:19551830-19551845 chr17:19551891-19551906
39	RELA	chr17:19551269-19552530	GM18951	blood:	n/a	n/a
40	TBP	chr17:19551851-19552574	H1-hESC	embryonic stem cell:	n/a	n/a
41	TAF1	chr17:19551148-19552392	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr17:19551780-19551930	HPF	lung:	n/a	chr17:19551893-19551903 chr17:19551892-19551905
43	USF1	chr17:19551200-19552543	A549	lung:	n/a	n/a
44	ZNF143	chr17:19551298-19552549	GM12878	blood:	n/a	n/a
45	POLR2A	chr17:19551231-19552568	MCF-7	breast:	n/a	n/a
46	RELA	chr17:19551321-19552579	GM19099	blood:	n/a	n/a
47	RAD21	chr17:19551793-19552485	SK-N-SH_RA	brain:	n/a	chr17:19551892-19551902 chr17:19552076-19552090 chr17:19551890-19551902
48	REST	chr17:19551788-19552490	SK-N-SH	brain:	n/a	chr17:19551962-19551980
49	CREB1	chr17:19551266-19552461	A549	lung:	n/a	n/a
50	USF1	chr17:19551575-19552626	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:19551893-19551943	HL-60	blood:	n/a
2	chr17:19551893-19551943	SKMC	muscle:	n/a
3	chr17:19551893-19551943	H1-hESC	embryonic stem cell:	embryo
4	chr17:19551893-19551943	HAEpiC	amniotic membrane:	n/a
5	chr17:19551893-19551943	HEEpiC	esophagus:	n/a
6	chr17:19551893-19551943	GM06990	blood:	n/a
7	chr17:19551893-19551943	Hela-S3	cervix:	n/a
8	chr17:19551893-19551943	HEK293	kidney:	embryo
9	chr17:19551893-19551943	U87	brain:	n/a
10	chr17:19551893-19551943	NB4	blood:	n/a
11	chr17:19551893-19551943	LNCaP	prostate:	n/a
12	chr17:19551893-19551943	AG09319	gingival:	n/a
13	chr17:19551893-19551943	NT2-D1	testis:	n/a
14	chr17:19551893-19551943	GM19239	blood:	n/a
15	chr17:19551893-19551943	Jurkat	blood:	n/a
16	chr17:19551893-19551943	HCT-116	colon:	n/a
17	chr17:19551893-19551943	CMK	blood:	n/a
18	chr17:19551893-19551943	AoSMC	blood vessel:	n/a
19	chr17:19551893-19551943	MCF-7	breast:	n/a
20	chr17:19551893-19551943	GM12891	blood:	n/a
21	chr17:19551893-19551943	NHBE	bronchial:	n/a
22	chr17:19551893-19551943	AG04449	skin:	fetal
23	chr17:19551893-19551943	AG04450	lung:	fetal
24	chr17:19551893-19551943	BE2_C	brain:	n/a
25	chr17:19551893-19551943	RPTEC	kidney:	n/a
26	chr17:19551893-19551943	AG10803	skin:	n/a
27	chr17:19551893-19551943	SK-N-MC	brain:	n/a
28	chr17:19551893-19551943	HRPEpiC	eye:	n/a
29	chr17:19551893-19551943	ECC-1	luminal epithelium:	n/a
30	chr17:19551893-19551943	HIPEpiC	eye:	n/a
31	chr17:19551893-19551943	SK-N-SH	brain:	n/a
32	chr17:19551893-19551943	ProgFib	skin:	n/a
33	chr17:19551893-19551943	NHDF-neo	bronchial:	n/a
34	chr17:19551893-19551943	GM12878	blood:	n/a
35	chr17:19551893-19551943	BJ	skin:	n/a
36	chr17:19551893-19551943	AG09309	skin:	n/a
37	chr17:19551893-19551943	HRCEpiC	kidney:	n/a
38	chr17:19551893-19551943	A549	lung:	n/a
39	chr17:19551893-19551943	HepG2	liver:	n/a
40	chr17:19551893-19551943	HNPCEpiC	eye:	n/a
41	chr17:19551893-19551943	T-47D	breast:	n/a
42	chr17:19551893-19551943	SK-N-SH_RA	brain:	n/a
43	chr17:19551893-19551943	SAEC	small airway:	n/a
44	chr17:19551893-19551943	Caco-2	colon:	n/a
45	chr17:19551893-19551943	HCM	heart:	n/a
46	chr17:19551893-19551943	IMR90	lung:	fetal
47	chr17:19551893-19551943	PFSK-1	brain:	n/a
48	chr17:19551893-19551943	ovcar-3	ovarian:	n/a
49	chr17:19551893-19551943	HPAEpiC	pulmonary alveolar:	n/a
50	chr17:19551893-19551943	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:7052903..7053683-chr17:19551768..19552355,2	Hela-S3	cervix:
2	chr1:62190788..62191431-chr17:19551361..19552028,2	Hela-S3	cervix:
3	chr17:19549675..19554690-chr17:19558689..19564889,9	MCF-7	breast:
4	chr14:55493911..55494441-chr17:19551479..19552122,2	Hela-S3	cervix:
5	chr11:66886604..66887153-chr17:19551576..19552186,2	NB4	blood:
6	chr17:19551796..19552380-chr6:28891386..28892119,2	HCT-116	colon:
7	chr17:19551197..19552117-chr7:105161941..105162797,2	Hela-S3	cervix:
8	chr17:19265973..19268468-chr17:19549750..19551918,2	MCF-7	breast:
9	chr17:19550266..19552397-chr17:19557719..19560014,2	MCF-7	breast:
10	chr17:19551499..19552294-chr8:144373035..144373679,2	Hela-S3	cervix:
11	chr17:19550468..19552548-chr17:19574981..19577039,2	MCF-7	breast:
12	chr1:1259573..1260248-chr17:19551360..19552018,2	Hela-S3	cervix:
13	chr17:19551522..19552064-chr7:66309450..66309973,2	NB4	blood:
14	chr17:19551394..19551927-chr2:70520457..70521439,2	NB4	blood:
15	chr17:19550345..19551966-chr17:19622078..19623602,2	MCF-7	breast:

Variant related genes	Relation type
ALDH3A2	TF binding region
ALDH3A2	CpG island
ENSG00000162604	Chromatin interaction
ENSG00000262681	Chromatin interaction
ENSG00000143977	Chromatin interaction
ENSG00000230583	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000224051	Chromatin interaction
ENSG00000180638	Chromatin interaction
ENSG00000108641	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000185730	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000072210	Chromatin interaction
ENSG00000180008	Chromatin interaction
ENSG00000204713	Chromatin interaction
ENSG00000091127	Chromatin interaction
ENSG00000127054	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1061408	chr17:19458185-19613357	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	esv2757654	chr17:19485735-19563766	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	esv2758679	chr17:19485735-19563766	Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS 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
6	nsv1055361	chr17:19515267-19582503	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv934250	chr17:19551657-19561421	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19550200-19555200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr17:19550600-19552000	Flanking Active TSS	HUVEC	blood vessel
3	chr17:19550600-19552800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:19550800-19553200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr17:19551000-19552600	Flanking Active TSS	HMEC	breast
6	chr17:19551000-19553000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr17:19551000-19553200	Active TSS	Brain Substantia Nigra	brain
8	chr17:19551000-19553200	Bivalent/Poised TSS	Thymus	Thymus
9	chr17:19551000-19553200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr17:19551000-19553400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr17:19551000-19553400	Active TSS	Ovary	ovary
12	chr17:19551000-19553800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr17:19551000-19553800	Active TSS	Right Ventricle	heart
14	chr17:19551000-19554600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr17:19551200-19552000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:19551200-19552200	Active TSS	Primary T cells from cord blood	blood
17	chr17:19551200-19552600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr17:19551200-19552800	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr17:19551200-19552800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr17:19551200-19552800	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr17:19551200-19552800	Active TSS	Brain Cingulate Gyrus	brain
22	chr17:19551200-19552800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr17:19551200-19552800	Active TSS	Gastric	stomach
24	chr17:19551200-19553000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:19551200-19553200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr17:19551200-19553200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr17:19551200-19553200	Active TSS	Colon Smooth Muscle	Colon
28	chr17:19551200-19553200	Active TSS	Left Ventricle	heart
29	chr17:19551200-19553600	Active TSS	Lung	lung
30	chr17:19551200-19553800	Active TSS	Brain Angular Gyrus	brain
31	chr17:19551200-19554000	Active TSS	Aorta	Aorta
32	chr17:19551200-19554200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr17:19551200-19554600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr17:19551200-19554800	Active TSS	Esophagus	oesophagus
35	chr17:19551200-19554800	Active TSS	Right Atrium	heart
36	chr17:19551400-19552200	Active TSS	Fetal Brain Male	brain
37	chr17:19551400-19552400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:19551400-19552600	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr17:19551400-19552600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:19551400-19552600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:19551400-19552600	Active TSS	Brain Hippocampus Middle	brain
42	chr17:19551400-19552600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr17:19551400-19552600	Active TSS	Small Intestine	intestine
44	chr17:19551400-19552800	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr17:19551400-19552800	Bivalent/Poised TSS	HepG2	liver
46	chr17:19551400-19553000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr17:19551400-19553000	Active TSS	Fetal Intestine Small	intestine
48	chr17:19551400-19553000	Active TSS	Fetal Lung	lung
49	chr17:19551400-19553000	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr17:19551400-19553200	Active TSS	Stomach Mucosa	stomach

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