Variant report

Variant	rs189240597
Chromosome Location	chr17:19657209-19657210
allele	G/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	MYC	chr17:19656326-19657529	MCF10A-Er-Src	breast:	n/a	n/a
2	YY1	chr17:19656210-19657538	A549	lung:	n/a	chr17:19656420-19656439 chr17:19656601-19656620
3	SIN3A	chr17:19657181-19657370	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr17:19656967-19657419	A549	lung:	n/a	n/a
5	ELK4	chr17:19656411-19657313	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr17:19657173-19657471	T-47D	breast:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
7	POLR2A	chr17:19656926-19657504	A549	lung:	n/a	n/a
8	POLR2A	chr17:19656940-19657447	Hela-S3	cervix:	n/a	n/a
9	JUND	chr17:19656919-19657485	A549	lung:	n/a	n/a
10	ETS1	chr17:19656813-19657553	A549	lung:	n/a	chr17:19657060-19657073
11	RCOR1	chr17:19656273-19657546	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr17:19657080-19657230	NHLF	lung:	n/a	n/a
13	CTCF	chr17:19657080-19657525	MCF-7	breast:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
14	MAX	chr17:19656103-19657637	ECC-1	luminal epithelium:	n/a	n/a
15	USF1	chr17:19657048-19657560	A549	lung:	n/a	chr17:19657051-19657067
16	RAD21	chr17:19657088-19657572	SK-N-SH	brain:	n/a	n/a
17	NFIC	chr17:19655245-19657642	ECC-1	luminal epithelium:	n/a	n/a
18	RAD21	chr17:19657021-19657615	ECC-1	luminal epithelium:	n/a	n/a
19	RAD21	chr17:19656338-19657566	Hela-S3	cervix:	n/a	n/a
20	TFAP2C	chr17:19657035-19657533	Hela-S3	cervix:	n/a	n/a
21	BCL3	chr17:19655518-19657605	A549	lung:	n/a	n/a
22	RAD21	chr17:19657063-19657524	MCF-7	breast:	n/a	n/a
23	CTCF	chr17:19655567-19657796	A549	lung:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
24	CTCF	chr17:19657120-19657541	T-47D	breast:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
25	MAX	chr17:19655360-19657497	A549	lung:	n/a	n/a
26	GTF2F1	chr17:19656283-19657508	Hela-S3	cervix:	n/a	n/a
27	TCF12	chr17:19655127-19657555	A549	lung:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
28	NFIC	chr17:19657018-19657540	ECC-1	luminal epithelium:	n/a	n/a
29	BRCA1	chr17:19656321-19657468	Hela-S3	cervix:	n/a	n/a
30	FOXA1	chr17:19657185-19657485	T-47D	breast:	n/a	n/a
31	STAT1	chr17:19655498-19657628	Hela-S3	cervix:	n/a	chr17:19656450-19656458 chr17:19657410-19657421
32	MAX	chr17:19656936-19657461	ECC-1	luminal epithelium:	n/a	n/a
33	RAD21	chr17:19657115-19657457	HepG2	liver:	n/a	n/a
34	FOSL2	chr17:19655170-19657625	A549	lung:	n/a	chr17:19656544-19656554 chr17:19656545-19656553 chr17:19656389-19656396 chr17:19656544-19656554 chr17:19656884-19656896
35	RAD21	chr17:19657203-19657487	SK-N-SH_RA	brain:	n/a	n/a
36	REST	chr17:19655838-19657489	A549	lung:	n/a	chr17:19657057-19657067 chr17:19656063-19656081 chr17:19656075-19656088 chr17:19656075-19656088
37	TCF12	chr17:19655317-19657547	ECC-1	luminal epithelium:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
38	CTCF	chr17:19657160-19657310	GM12865	blood:	n/a	n/a
39	SMARCC1	chr17:19655557-19657380	Hela-S3	cervix:	n/a	chr17:19656545-19656554
40	CTCF	chr17:19657200-19657493	MCF-7	breast:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
41	CHD2	chr17:19656207-19657517	Hela-S3	cervix:	n/a	n/a
42	TCF12	chr17:19655162-19657509	ECC-1	luminal epithelium:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
43	YY1	chr17:19657193-19657504	HCT-116	colon:	n/a	n/a
44	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
45	EP300	chr17:19655204-19657697	A549	lung:	n/a	chr17:19656968-19656975
46	RAD21	chr17:19657072-19657639	A549	lung:	n/a	n/a
47	CTCF	chr17:19656921-19657753	HCT-116	colon:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
48	BCL3	chr17:19655354-19657717	A549	lung:	n/a	n/a
49	TBP	chr17:19656129-19657564	Hela-S3	cervix:	n/a	n/a
50	SP1	chr17:19655099-19657664	A549	lung:	n/a	chr17:19656877-19656884

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	chr17:19656623..19657451-chr17:19665588..19666274,2	MCF-7	breast:
12	chr11:67149008..67150613-chr17:19656460..19658061,2	MCF-7	breast:
13	chr11:67380849..67383590-chr17:19654631..19658826,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230607	TF binding region
ALDH3A1	TF binding region
ENSG00000262681	Chromatin interaction
ENSG00000180638	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000167800	Chromatin interaction
ENSG00000108602	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000231793	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19650600-19657600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr17:19653400-19657400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:19654400-19658600	Enhancers	Stomach Mucosa	stomach
4	chr17:19655200-19657400	Enhancers	Esophagus	oesophagus
5	chr17:19655200-19657400	Enhancers	HSMM	muscle
6	chr17:19655400-19657400	Enhancers	Brain Substantia Nigra	brain
7	chr17:19655400-19657400	Enhancers	Duodenum Mucosa	Duodenum
8	chr17:19655400-19657400	Enhancers	Fetal Muscle Leg	muscle
9	chr17:19655400-19657400	Flanking Active TSS	Hela-S3	cervix
10	chr17:19655400-19657400	Enhancers	HUVEC	blood vessel
11	chr17:19655400-19657400	Enhancers	NHDF-Ad	bronchial
12	chr17:19655400-19657600	Enhancers	HSMMtube	muscle
13	chr17:19655600-19657400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:19655600-19657400	Enhancers	Adipose Nuclei	Adipose
15	chr17:19655600-19657400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr17:19655600-19657400	Enhancers	NH-A	brain
17	chr17:19655800-19657400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr17:19655800-19657400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:19655800-19657400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr17:19655800-19657400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:19655800-19657400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr17:19655800-19657400	Enhancers	Brain Angular Gyrus	brain
23	chr17:19655800-19657400	Enhancers	Brain Anterior Caudate	brain
24	chr17:19655800-19657400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr17:19656000-19657400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:19656000-19657400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr17:19656000-19657400	Enhancers	Gastric	stomach
28	chr17:19656000-19657400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr17:19656000-19657400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr17:19656000-19657600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:19656000-19657600	Enhancers	Osteobl	bone
32	chr17:19656000-19659600	Enhancers	Primary B cells from cord blood	blood
33	chr17:19656200-19657400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr17:19656200-19657400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:19656200-19657400	Enhancers	Left Ventricle	heart
36	chr17:19656200-19657400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr17:19656200-19657600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr17:19656200-19658000	Enhancers	GM12878-XiMat	blood
39	chr17:19656400-19657400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:19656400-19659800	Enhancers	Primary B cells from peripheral blood	blood
41	chr17:19656600-19657400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:19656600-19657400	Enhancers	Brain Cingulate Gyrus	brain
43	chr17:19656600-19657400	Enhancers	Pancreas	Pancrea
44	chr17:19656600-19657400	Enhancers	Stomach Smooth Muscle	stomach
45	chr17:19656600-19657400	Flanking Active TSS	A549	lung
46	chr17:19656600-19661200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:19656800-19657400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr17:19656800-19659800	Weak transcription	HepG2	liver
49	chr17:19657000-19657400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr17:19657000-19657400	Enhancers	Spleen	Spleen

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