Variant report

Variant	rs567263010
Chromosome Location	chr17:19656430-19656431
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	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	ELK4	chr17:19656411-19657313	Hela-S3	cervix:	n/a	n/a
4	SP1	chr17:19655324-19657005	HCT-116	colon:	n/a	chr17:19656877-19656884
5	USF1	chr17:19656250-19656847	A549	lung:	n/a	n/a
6	YY1	chr17:19656289-19656807	ECC-1	luminal epithelium:	n/a	chr17:19656420-19656439 chr17:19656601-19656620
7	POLR2A	chr17:19656376-19656694	PANC-1	pancreas:	n/a	n/a
8	FOS	chr17:19656327-19656853	MCF10A-Er-Src	breast:	n/a	chr17:19656544-19656554 chr17:19656545-19656553 chr17:19656389-19656396 chr17:19656543-19656554 chr17:19656544-19656554
9	MAFK	chr17:19656278-19656657	H1-hESC	embryonic stem cell:	n/a	chr17:19656350-19656359
10	RCOR1	chr17:19656273-19657546	Hela-S3	cervix:	n/a	n/a
11	ESR1	chr17:19656256-19656786	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr17:19656103-19657637	ECC-1	luminal epithelium:	n/a	n/a
13	MAFK	chr17:19656407-19656562	HepG2	liver:	n/a	n/a
14	NFIC	chr17:19655245-19657642	ECC-1	luminal epithelium:	n/a	n/a
15	EGR1	chr17:19656319-19656853	ECC-1	luminal epithelium:	n/a	chr17:19656591-19656604
16	POLR2A	chr17:19656040-19656796	Hela-S3	cervix:	n/a	n/a
17	MYC	chr17:19656397-19656649	MCF-7	breast:	n/a	n/a
18	POLR2A	chr17:19656298-19656719	SK-N-SH	brain:	n/a	n/a
19	RAD21	chr17:19656338-19657566	Hela-S3	cervix:	n/a	n/a
20	BCL3	chr17:19655518-19657605	A549	lung:	n/a	n/a
21	POLR2A	chr17:19656148-19656946	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr17:19656138-19656755	A549	lung:	n/a	n/a
23	CTCF	chr17:19656380-19656530	HRE	kidney:	n/a	n/a
24	CTCF	chr17:19655567-19657796	A549	lung:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
25	POLR2A	chr17:19656328-19656734	ProgFib	skin:	n/a	n/a
26	POLR2A	chr17:19655337-19656871	Hela-S3	cervix:	n/a	n/a
27	MAX	chr17:19655360-19657497	A549	lung:	n/a	n/a
28	JUND	chr17:19655232-19656876	A549	lung:	n/a	chr17:19656544-19656554 chr17:19656545-19656553 chr17:19656389-19656396 chr17:19656544-19656554
29	GTF2F1	chr17:19656283-19657508	Hela-S3	cervix:	n/a	n/a
30	TCF12	chr17:19655127-19657555	A549	lung:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
31	POLR2A	chr17:19655545-19656753	A549	lung:	n/a	n/a
32	NR3C1	chr17:19656246-19656833	A549	lung:	n/a	chr17:19656545-19656554
33	NR3C1	chr17:19656370-19656835	ECC-1	luminal epithelium:	n/a	chr17:19656545-19656554
34	NR3C1	chr17:19656302-19656809	A549	lung:	n/a	chr17:19656545-19656554
35	MXI1	chr17:19656302-19656827	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr17:19656321-19657468	Hela-S3	cervix:	n/a	n/a
37	STAT1	chr17:19655498-19657628	Hela-S3	cervix:	n/a	chr17:19656450-19656458 chr17:19657410-19657421
38	ZNF143	chr17:19656278-19656670	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr17:19655742-19656801	ECC-1	luminal epithelium:	n/a	n/a
40	REST	chr17:19656352-19656936	MCF-7	breast:	n/a	n/a
41	POLR2A	chr17:19656392-19656678	A549	lung:	n/a	n/a
42	CTCF	chr17:19656404-19656534	NHEK	skin:	n/a	n/a
43	JUND	chr17:19656179-19656936	A549	lung:	n/a	chr17:19656544-19656554 chr17:19656545-19656553 chr17:19656389-19656396 chr17:19656544-19656554 chr17:19656884-19656896
44	NFIC	chr17:19655190-19656954	ECC-1	luminal epithelium:	n/a	n/a
45	TCF12	chr17:19656059-19656950	SK-N-SH	brain:	n/a	n/a
46	MAZ	chr17:19656239-19656757	Hela-S3	cervix:	n/a	n/a
47	REST	chr17:19656281-19656737	SK-N-SH	brain:	n/a	n/a
48	ZBTB33	chr17:19656155-19656931	A549	lung:	n/a	n/a
49	POLR2A	chr17:19656303-19656605	HL-60	blood:	n/a	n/a
50	TCF7L2	chr17:19655969-19656717	Hela-S3	cervix:	n/a	chr17:19656545-19656554

No.	Distal block	Cell Line	Cell type
1	chr17:19621105..19622742-chr17:19656130..19658211,2	MCF-7	breast:
2	chr11:67406449..67409216-chr17:19654457..19656822,7	MCF-7	breast:
3	chr11:67397006..67400354-chr17:19655005..19658242,3	MCF-7	breast:
4	chr11:67405096..67409176-chr17:19654881..19658832,8	MCF-7	breast:
5	chr11:67139722..67141643-chr17:19656038..19657945,2	MCF-7	breast:
6	chr17:19649191..19653636-chr17:19654131..19659903,8	MCF-7	breast:
7	chr11:67382088..67384067-chr17:19655991..19658673,2	MCF-7	breast:
8	chr11:67380849..67383590-chr17:19654631..19658826,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230607	TF binding region
ALDH3A1	TF binding region
ENSG00000167800	Chromatin interaction
ENSG00000262681	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000231793	Chromatin interaction
ENSG00000180638	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000108602	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19648800-19657000	Weak transcription	Spleen	Spleen
2	chr17:19650200-19656800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr17:19650600-19657000	Enhancers	HMEC	breast
4	chr17:19650600-19657600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:19652400-19656600	Weak transcription	Pancreas	Pancrea
6	chr17:19652600-19656600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:19653400-19657400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:19654400-19658600	Enhancers	Stomach Mucosa	stomach
9	chr17:19655200-19657200	Enhancers	Fetal Muscle Trunk	muscle
10	chr17:19655200-19657400	Enhancers	Esophagus	oesophagus
11	chr17:19655200-19657400	Enhancers	HSMM	muscle
12	chr17:19655400-19656800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:19655400-19657400	Enhancers	Brain Substantia Nigra	brain
14	chr17:19655400-19657400	Enhancers	Duodenum Mucosa	Duodenum
15	chr17:19655400-19657400	Enhancers	Fetal Muscle Leg	muscle
16	chr17:19655400-19657400	Flanking Active TSS	Hela-S3	cervix
17	chr17:19655400-19657400	Enhancers	HUVEC	blood vessel
18	chr17:19655400-19657400	Enhancers	NHDF-Ad	bronchial
19	chr17:19655400-19657600	Enhancers	HSMMtube	muscle
20	chr17:19655600-19657400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:19655600-19657400	Enhancers	Adipose Nuclei	Adipose
22	chr17:19655600-19657400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr17:19655600-19657400	Enhancers	NH-A	brain
24	chr17:19655800-19656600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:19655800-19656600	Enhancers	Colonic Mucosa	Colon
26	chr17:19655800-19656800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:19655800-19656800	Enhancers	HepG2	liver
28	chr17:19655800-19657000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr17:19655800-19657200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr17:19655800-19657200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr17:19655800-19657400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr17:19655800-19657400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:19655800-19657400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr17:19655800-19657400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:19655800-19657400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:19655800-19657400	Enhancers	Brain Angular Gyrus	brain
37	chr17:19655800-19657400	Enhancers	Brain Anterior Caudate	brain
38	chr17:19655800-19657400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr17:19656000-19656800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:19656000-19657200	Flanking Active TSS	NHEK	skin
41	chr17:19656000-19657400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:19656000-19657400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr17:19656000-19657400	Enhancers	Gastric	stomach
44	chr17:19656000-19657400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr17:19656000-19657400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr17:19656000-19657600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr17:19656000-19657600	Enhancers	Osteobl	bone
48	chr17:19656000-19659600	Enhancers	Primary B cells from cord blood	blood
49	chr17:19656200-19656600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr17:19656200-19656600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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