Variant report

Variant	rs539325025
Chromosome Location	chr17:17584719-17584720
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	chr17:17584481-17586673	K562	blood:	n/a	chr17:17584569-17584579 chr17:17584960-17584970
2	CTCF	chr17:17584371-17584813	H1-hESC	embryonic stem cell:	n/a	chr17:17584601-17584614 chr17:17584600-17584621 chr17:17584601-17584610 chr17:17584598-17584616 chr17:17584599-17584615
3	MAX	chr17:17584459-17584966	SK-N-SH	brain:	n/a	chr17:17584460-17584470 chr17:17584569-17584579
4	MAX	chr17:17584427-17584832	GM12878	blood:	n/a	chr17:17584460-17584470 chr17:17584569-17584579
5	CTCF	chr17:17584448-17584749	GM19238	blood:	n/a	chr17:17584601-17584614 chr17:17584600-17584621 chr17:17584601-17584610 chr17:17584598-17584616 chr17:17584599-17584615
6	TBP	chr17:17584683-17584940	HepG2	liver:	n/a	n/a
7	YY1	chr17:17584362-17585269	HepG2	liver:	n/a	chr17:17584928-17584942 chr17:17584965-17584979 chr17:17584970-17584979
8	POLR2A	chr17:17584579-17584978	HUVEC	blood vessel:	n/a	n/a
9	MXI1	chr17:17584358-17584934	HepG2	liver:	n/a	n/a
10	SIN3AK20	chr17:17584432-17585384	PANC-1	pancreas:	n/a	n/a
11	ZBTB7A	chr17:17584254-17586993	ECC-1	luminal epithelium:	n/a	chr17:17585395-17585404 chr17:17584964-17584973 chr17:17585784-17585792
12	MAX	chr17:17584439-17586906	Hela-S3	cervix:	n/a	chr17:17584460-17584470 chr17:17584569-17584579 chr17:17584960-17584970
13	CCNT2	chr17:17584483-17586765	K562	blood:	n/a	chr17:17586230-17586239 chr17:17586383-17586392 chr17:17586224-17586233 chr17:17585462-17585471
14	RAD21	chr17:17584452-17584808	GM12878	blood:	n/a	chr17:17584599-17584618
15	TFAP2C	chr17:17584423-17586451	Hela-S3	cervix:	n/a	chr17:17585148-17585163
16	GABPA	chr17:17584526-17584937	A549	lung:	n/a	chr17:17584569-17584578
17	POLR2A	chr17:17584631-17585069	GM12892	blood:	n/a	n/a
18	MYC	chr17:17584477-17585130	MCF10A-Er-Src	breast:	n/a	chr17:17584569-17584579 chr17:17584960-17584970
19	YY1	chr17:17584348-17584903	K562	blood:	n/a	n/a
20	CTCF	chr17:17584470-17584728	K562	blood:	n/a	chr17:17584601-17584614 chr17:17584600-17584621 chr17:17584601-17584610 chr17:17584598-17584616 chr17:17584599-17584615
21	HDAC2	chr17:17584502-17584910	K562	blood:	n/a	n/a
22	POLR2A	chr17:17584608-17586488	GM12878	blood:	n/a	n/a
23	POLR2A	chr17:17584654-17584999	MCF10A-Er-Src	breast:	n/a	n/a
24	CHD2	chr17:17584608-17584765	HepG2	liver:	n/a	n/a
25	POLR2A	chr17:17584630-17586357	NB4	blood:	n/a	n/a
26	ZC3H11A	chr17:17584660-17584875	K562	blood:	n/a	n/a
27	CHD2	chr17:17584442-17584821	Hela-S3	cervix:	n/a	n/a
28	MAX	chr17:17584171-17586520	HepG2	liver:	n/a	chr17:17584460-17584470 chr17:17584569-17584579 chr17:17584960-17584970
29	CTCF	chr17:17584435-17584722	K562	blood:	n/a	chr17:17584601-17584614 chr17:17584600-17584621 chr17:17584601-17584610 chr17:17584598-17584616 chr17:17584599-17584615
30	PAX5	chr17:17584398-17586425	GM12892	blood:	n/a	chr17:17585556-17585565 chr17:17585224-17585233 chr17:17584950-17584959 chr17:17585549-17585566 chr17:17585222-17585231
31	TAF1	chr17:17584466-17585415	HepG2	liver:	n/a	n/a
32	POLR2A	chr17:17584504-17584957	HCT-116	colon:	n/a	n/a
33	POLR2A	chr17:17584466-17585891	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr17:17584439-17584734	MCF-7	breast:	n/a	chr17:17584601-17584614 chr17:17584600-17584621 chr17:17584601-17584610 chr17:17584598-17584616 chr17:17584599-17584615
35	CTCF	chr17:17584456-17584752	Pancreas_OC	pancreas:	n/a	chr17:17584601-17584614 chr17:17584600-17584621 chr17:17584601-17584610 chr17:17584598-17584616 chr17:17584599-17584615
36	SMC3	chr17:17584350-17584828	GM12878	blood:	n/a	chr17:17584566-17584576 chr17:17584600-17584614
37	ZBTB7A	chr17:17584450-17585463	K562	blood:	n/a	chr17:17585395-17585404 chr17:17584964-17584973
38	NANOG	chr17:17584483-17584792	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr17:17584593-17587213	GM12878	blood:	n/a	n/a
40	POLR2A	chr17:17584546-17586799	GM12892	blood:	n/a	n/a
41	MAX	chr17:17584482-17584814	NB4	blood:	n/a	chr17:17584569-17584579
42	RAD21	chr17:17584222-17584959	ECC-1	luminal epithelium:	n/a	chr17:17584599-17584618
43	REST	chr17:17584150-17587378	H1-neurons	neurons:	n/a	chr17:17586117-17586130 chr17:17585274-17585287 chr17:17585661-17585674 chr17:17584557-17584570 chr17:17584457-17584470 chr17:17586267-17586277
44	POLR2A	chr17:17584547-17586471	MCF-7	breast:	n/a	n/a
45	YY1	chr17:17584431-17585353	GM12892	blood:	n/a	chr17:17584928-17584942 chr17:17584965-17584979 chr17:17584970-17584979
46	TCF12	chr17:17584445-17584736	GM12878	blood:	n/a	n/a
47	RCOR1	chr17:17584474-17584728	Hela-S3	cervix:	n/a	n/a
48	TEAD4	chr17:17584355-17584998	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr17:17584557-17586740	GM18951	blood:	n/a	n/a
50	CTCF	chr17:17584360-17584910	K562	blood:	n/a	chr17:17584601-17584614 chr17:17584600-17584621 chr17:17584601-17584610 chr17:17584598-17584616 chr17:17584599-17584615

No.	Distal block	Cell Line	Cell type
1	chr17:17583267..17586800-chr17:17714001..17718221,4	K562	blood:
2	chr17:17584474..17587446-chr17:17720269..17722303,2	K562	blood:
3	chr17:17581707..17587972-chr17:17684185..17691006,14	MCF-7	breast:
4	chr17:17584228..17586367-chr17:17721759..17723604,3	MCF-7	breast:
5	chr17:17583605..17586318-chr17:17753777..17755939,2	K562	blood:
6	chr17:17584192..17584734-chr17:17642875..17643692,2	MCF-7	breast:
7	chr17:17583924..17586191-chr17:17941715..17944094,3	K562	blood:
8	chr17:17583519..17585283-chr17:17719170..17722055,2	MCF-7	breast:
9	chr17:17583640..17587401-chr17:17713270..17717474,6	MCF-7	breast:
10	chr17:17584408..17586554-chr17:17725797..17727625,2	K562	blood:
11	chr17:17582541..17589441-chr17:17738170..17742091,10	K562	blood:
12	chr17:17584674..17588119-chr17:17738170..17742427,6	K562	blood:
13	chr17:17583171..17587600-chr17:17683205..17687633,5	MCF-7	breast:
14	chr17:17583267..17584889-chr17:17715443..17717177,2	K562	blood:
15	chr17:17580850..17587926-chr17:17737733..17744809,17	MCF-7	breast:
16	chr17:17584137..17584962-chr17:17739599..17740212,2	HCT-116	colon:
17	chr17:17583537..17586679-chr17:17711908..17715201,3	MCF-7	breast:
18	chr17:17583643..17586896-chr17:17724231..17729521,8	MCF-7	breast:

Variant related genes	Relation type
SMCR2	TF binding region
RAI1	TF binding region
ENSG00000171953	Chromatin interaction
ENSG00000072310	Chromatin interaction
ENSG00000207839	Chromatin interaction
ENSG00000141034	Chromatin interaction
ENSG00000108557	Chromatin interaction
ENSG00000175662	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
8	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
11	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
12	nsv543239	chr17:17580295-17599851	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv907755	chr17:17581184-17610587	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv3369275	chr17:17583127-17586825	Flanking Active TSS Enhancers Weak 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	8 gene(s)	inside rSNPs	diseases
15	esv3443065	chr17:17583652-17586200	Enhancers Active TSS Weak transcription Flanking 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	8 gene(s)	inside rSNPs	diseases
16	nsv827910	chr17:17583901-17586576	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	esv3413919	chr17:17583902-17586600	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17580600-17585200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr17:17581000-17584800	Weak transcription	Primary T cells from cord blood	blood
3	chr17:17581000-17586400	Weak transcription	Fetal Heart	heart
4	chr17:17581400-17584800	Weak transcription	HUVEC	blood vessel
5	chr17:17583600-17586800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr17:17584000-17586000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:17584000-17586600	Active TSS	Hela-S3	cervix
8	chr17:17584200-17584800	Enhancers	K562	blood
9	chr17:17584200-17586400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr17:17584200-17586400	Active TSS	Brain Anterior Caudate	brain
11	chr17:17584200-17586400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr17:17584200-17586600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr17:17584200-17586600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:17584200-17586600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:17584200-17586600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr17:17584200-17586600	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr17:17584200-17586600	Active TSS	Rectal Smooth Muscle	rectum
18	chr17:17584200-17587000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr17:17584400-17585000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr17:17584400-17585000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:17584400-17585200	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr17:17584400-17585200	Weak transcription	Fetal Kidney	kidney
23	chr17:17584400-17585800	Active TSS	Colonic Mucosa	Colon
24	chr17:17584400-17586400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:17584400-17586400	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr17:17584400-17586400	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr17:17584400-17586400	Active TSS	Adipose Nuclei	Adipose
28	chr17:17584400-17586600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:17584400-17586600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:17584400-17586600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr17:17584400-17586600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr17:17584400-17586600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:17584400-17586600	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr17:17584400-17586600	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr17:17584400-17586600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:17584400-17586600	Active TSS	Muscle Satellite Cultured Cells	--
37	chr17:17584400-17586600	Active TSS	Brain Angular Gyrus	brain
38	chr17:17584400-17586600	Active TSS	Brain Hippocampus Middle	brain
39	chr17:17584400-17586600	Active TSS	Duodenum Mucosa	Duodenum
40	chr17:17584400-17586600	Active TSS	Fetal Brain Female	brain
41	chr17:17584400-17586600	Active TSS	Lung	lung
42	chr17:17584400-17586600	Active TSS	Pancreas	Pancrea
43	chr17:17584400-17586600	Active TSS	Psoas Muscle	Psoas
44	chr17:17584400-17586600	Active TSS	Right Atrium	heart
45	chr17:17584400-17586600	Active TSS	Right Ventricle	heart
46	chr17:17584400-17586600	Active TSS	HSMMtube	muscle
47	chr17:17584400-17586600	Active TSS	NHDF-Ad	bronchial
48	chr17:17584400-17586600	Active TSS	NHLF	lung
49	chr17:17584400-17586600	Active TSS	Osteobl	bone
50	chr17:17584400-17586800	Active TSS	Aorta	Aorta

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