Variant report

Variant	rs563176974
Chromosome Location	chr17:19657484-19657485
allele	A/T
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	CTCF	chr17:19657360-19657510	A549	lung:	n/a	chr17:19657361-19657374
2	MYC	chr17:19656326-19657529	MCF10A-Er-Src	breast:	n/a	n/a
3	YY1	chr17:19656210-19657538	A549	lung:	n/a	chr17:19656420-19656439 chr17:19656601-19656620
4	POLR2A	chr17:19656926-19657504	A549	lung:	n/a	n/a
5	JUND	chr17:19656919-19657485	A549	lung:	n/a	n/a
6	ETS1	chr17:19656813-19657553	A549	lung:	n/a	chr17:19657060-19657073
7	RCOR1	chr17:19656273-19657546	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr17:19657080-19657525	MCF-7	breast:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
9	MAX	chr17:19656103-19657637	ECC-1	luminal epithelium:	n/a	n/a
10	USF1	chr17:19657048-19657560	A549	lung:	n/a	chr17:19657051-19657067
11	RAD21	chr17:19657088-19657572	SK-N-SH	brain:	n/a	n/a
12	NFIC	chr17:19655245-19657642	ECC-1	luminal epithelium:	n/a	n/a
13	RAD21	chr17:19657021-19657615	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr17:19657240-19657530	HVMF	connective:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
15	CTCF	chr17:19657340-19657490	GM12864	blood:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
16	RAD21	chr17:19656338-19657566	Hela-S3	cervix:	n/a	n/a
17	TFAP2C	chr17:19657035-19657533	Hela-S3	cervix:	n/a	n/a
18	BCL3	chr17:19655518-19657605	A549	lung:	n/a	n/a
19	CTCF	chr17:19657380-19657530	RPTEC	kidney:	n/a	n/a
20	RAD21	chr17:19657063-19657524	MCF-7	breast:	n/a	n/a
21	CTCF	chr17:19655567-19657796	A549	lung:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
22	CTCF	chr17:19657120-19657541	T-47D	breast:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
23	MAX	chr17:19655360-19657497	A549	lung:	n/a	n/a
24	GTF2F1	chr17:19656283-19657508	Hela-S3	cervix:	n/a	n/a
25	TCF12	chr17:19655127-19657555	A549	lung:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
26	NFIC	chr17:19657018-19657540	ECC-1	luminal epithelium:	n/a	n/a
27	FOXA1	chr17:19657185-19657485	T-47D	breast:	n/a	n/a
28	STAT1	chr17:19655498-19657628	Hela-S3	cervix:	n/a	chr17:19656450-19656458 chr17:19657410-19657421
29	FOSL2	chr17:19655170-19657625	A549	lung:	n/a	chr17:19656544-19656554 chr17:19656545-19656553 chr17:19656389-19656396 chr17:19656544-19656554 chr17:19656884-19656896
30	RAD21	chr17:19657203-19657487	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr17:19657223-19657492	ECC-1	luminal epithelium:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
32	REST	chr17:19655838-19657489	A549	lung:	n/a	chr17:19657057-19657067 chr17:19656063-19656081 chr17:19656075-19656088 chr17:19656075-19656088
33	TCF12	chr17:19655317-19657547	ECC-1	luminal epithelium:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
34	CTCF	chr17:19657200-19657493	MCF-7	breast:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
35	CHD2	chr17:19656207-19657517	Hela-S3	cervix:	n/a	n/a
36	TCF12	chr17:19655162-19657509	ECC-1	luminal epithelium:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
37	YY1	chr17:19657193-19657504	HCT-116	colon:	n/a	n/a
38	CTCF	chr17:19657380-19657530	NHLF	lung:	n/a	n/a
39	FOS	chr17:19656265-19657485	MCF10A-Er-Src	breast:	n/a	chr17:19656544-19656554 chr17:19656545-19656553 chr17:19656389-19656396 chr17:19656543-19656554 chr17:19656544-19656554 chr17:19656884-19656896
40	EP300	chr17:19655204-19657697	A549	lung:	n/a	chr17:19656968-19656975
41	RAD21	chr17:19657072-19657639	A549	lung:	n/a	n/a
42	CTCF	chr17:19656921-19657753	HCT-116	colon:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
43	BCL3	chr17:19655354-19657717	A549	lung:	n/a	n/a
44	TBP	chr17:19656129-19657564	Hela-S3	cervix:	n/a	n/a
45	SP1	chr17:19655099-19657664	A549	lung:	n/a	chr17:19656877-19656884
46	RAD21	chr17:19657149-19657535	A549	lung:	n/a	n/a
47	CTCF	chr17:19657084-19657484	A549	lung:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
48	RAD21	chr17:19656890-19657667	HCT-116	colon:	n/a	n/a
49	YY1	chr17:19657136-19657540	ECC-1	luminal epithelium:	n/a	n/a
50	CTCF	chr17:19657209-19657484	MCF-7	breast:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370

No.	Distal block	Cell Line	Cell type
1	chr17:19621105..19622742-chr17:19656130..19658211,2	MCF-7	breast:
2	chr17:19622195..19622792-chr17:19656909..19657524,3	MCF-7	breast:
3	chr11:67397006..67400354-chr17:19655005..19658242,3	MCF-7	breast:
4	chr17:19657133..19657845-chr20:45802558..45803277,2	MCF-7	breast:
5	chr11:67405096..67409176-chr17:19654881..19658832,8	MCF-7	breast:
6	chr11:67139722..67141643-chr17:19656038..19657945,2	MCF-7	breast:
7	chr17:19649191..19653636-chr17:19654131..19659903,8	MCF-7	breast:
8	chr17:19657020..19657638-chr17:19669487..19670405,2	MCF-7	breast:
9	chr11:67397884..67398710-chr17:19656962..19657673,2	MCF-7	breast:
10	chr11:67382088..67384067-chr17:19655991..19658673,2	MCF-7	breast:
11	chr11:67149008..67150613-chr17:19656460..19658061,2	MCF-7	breast:
12	chr11:67380849..67383590-chr17:19654631..19658826,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230607	TF binding region
ENSG00000175505	Chromatin interaction
ENSG00000180638	Chromatin interaction
ENSG00000108602	Chromatin interaction
ENSG00000231793	Chromatin interaction
ENSG00000262681	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000167800	Chromatin interaction
ENSG00000167799	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	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
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh 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	21 gene(s)	inside rSNPs	diseases
5	esv1793043	chr17:19604821-19670329	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv457704	chr17:19620477-19663747	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv470582	chr17:19620477-19663747	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv574580	chr17:19620477-19663747	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1061489	chr17:19654704-19705026	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv112170	chr17:19655486-19662348	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv13337	chr17:19655966-19662464	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19650600-19657600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr17:19654400-19658600	Enhancers	Stomach Mucosa	stomach
3	chr17:19655400-19657600	Enhancers	HSMMtube	muscle
4	chr17:19656000-19657600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr17:19656000-19657600	Enhancers	Osteobl	bone
6	chr17:19656000-19659600	Enhancers	Primary B cells from cord blood	blood
7	chr17:19656200-19657600	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr17:19656200-19658000	Enhancers	GM12878-XiMat	blood
9	chr17:19656400-19659800	Enhancers	Primary B cells from peripheral blood	blood
10	chr17:19656600-19661200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:19656800-19659800	Weak transcription	HepG2	liver
12	chr17:19657200-19657600	Enhancers	NHEK	skin
13	chr17:19657200-19658600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr17:19657200-19659200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr17:19657400-19657600	Enhancers	HMEC	breast
16	chr17:19657400-19658000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr17:19657400-19658400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr17:19657400-19658400	Weak transcription	Esophagus	oesophagus
19	chr17:19657400-19658400	Enhancers	Hela-S3	cervix
20	chr17:19657400-19658800	Weak transcription	Spleen	Spleen
21	chr17:19657400-19660400	Enhancers	A549	lung
22	chr17:19657400-19663000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:19657400-19663000	Weak transcription	Pancreas	Pancrea
24	chr17:19657400-19663400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:19657400-19665800	Weak transcription	Gastric	stomach
26	chr17:19657400-19673000	Weak transcription	HUVEC	blood vessel
27	chr17:19657400-19674000	Weak transcription	Primary monocytes fromperipheralblood	blood

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