Variant report

Variant	rs567093952
Chromosome Location	chr17:17583917-17583918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr17:17583857-17585038	HEK293-T-REx	kidney:	n/a	chr17:17584983-17584992
2	CTCF	chr17:17583878-17586930	A549	lung:	n/a	chr17:17585965-17585978 chr17:17586704-17586713 chr17:17584601-17584614 chr17:17584600-17584621 chr17:17584601-17584610 chr17:17584959-17584972 chr17:17584598-17584616 chr17:17584599-17584615 chr17:17586744-17586757

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17583879-17583929	HCF	heart:	n/a
2	chr17:17583879-17583929	K562	blood:	n/a
3	chr17:17583879-17583929	NB4	blood:	n/a
4	chr17:17583879-17583929	HCM	heart:	n/a
5	chr17:17583879-17583929	SAEC	small airway:	n/a
6	chr17:17583879-17583929	Caco-2	colon:	n/a
7	chr17:17583879-17583929	NT2-D1	testis:	n/a
8	chr17:17583879-17583929	ProgFib	skin:	n/a
9	chr17:17583879-17583929	HL-60	blood:	n/a
10	chr17:17583879-17583929	NHBE	bronchial:	n/a
11	chr17:17583879-17583929	RPTEC	kidney:	n/a
12	chr17:17583879-17583929	Hepatocyte	liver:	n/a
13	chr17:17583879-17583929	GM12891	blood:	n/a
14	chr17:17583879-17583929	SK-N-SH_RA	brain:	n/a
15	chr17:17583879-17583929	PrEC	prostate:	n/a
16	chr17:17583879-17583929	T-47D	breast:	n/a
17	chr17:17583879-17583929	HCPEpiC	choroid plexus:	n/a
18	chr17:17583879-17583929	HRCEpiC	kidney:	n/a
19	chr17:17583879-17583929	HepG2	liver:	n/a
20	chr17:17583879-17583929	IMR90	lung:	fetal
21	chr17:17583879-17583929	AoSMC	blood vessel:	n/a
22	chr17:17583879-17583929	HNPCEpiC	eye:	n/a
23	chr17:17583879-17583929	NH-A	brain:	n/a
24	chr17:17583879-17583929	AG10803	skin:	n/a
25	chr17:17583879-17583929	HPAEpiC	pulmonary alveolar:	n/a
26	chr17:17583879-17583929	ECC-1	luminal epithelium:	n/a
27	chr17:17583879-17583929	HRPEpiC	eye:	n/a
28	chr17:17583879-17583929	AG04449	skin:	fetal
29	chr17:17583879-17583929	HMEC	breast:	n/a
30	chr17:17583879-17583929	GM12892	blood:	n/a
31	chr17:17583879-17583929	SK-N-MC	brain:	n/a
32	chr17:17583879-17583929	GM06990	blood:	n/a
33	chr17:17583879-17583929	Jurkat	blood:	n/a
34	chr17:17583879-17583929	MCF-7	breast:	n/a
35	chr17:17583879-17583929	PANC-1	pancreas:	n/a
36	chr17:17583879-17583929	SK-N-SH	brain:	n/a
37	chr17:17583879-17583929	HAEpiC	amniotic membrane:	n/a
38	chr17:17583879-17583929	ovcar-3	ovarian:	n/a
39	chr17:17583879-17583929	NHDF-neo	bronchial:	n/a
40	chr17:17583879-17583929	SKMC	muscle:	n/a
41	chr17:17583879-17583929	BJ	skin:	n/a
42	chr17:17583879-17583929	HUVEC	blood vessel:	n/a
43	chr17:17583879-17583929	MCF10A-Er-Src	breast:	n/a
44	chr17:17583879-17583929	PFSK-1	brain:	n/a
45	chr17:17583879-17583929	HRE	kidney:	n/a
46	chr17:17583879-17583929	HIPEpiC	eye:	n/a
47	chr17:17583879-17583929	AG09309	skin:	n/a
48	chr17:17583879-17583929	LNCaP	prostate:	n/a
49	chr17:17583879-17583929	A549	lung:	n/a
50	chr17:17583879-17583929	HEEpiC	esophagus:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17582120..17584481-chr17:17669635..17672296,2	K562	blood:
2	chr17:17583267..17586800-chr17:17714001..17718221,4	K562	blood:
3	chr17:17581707..17587972-chr17:17684185..17691006,14	MCF-7	breast:
4	chr17:17583605..17586318-chr17:17753777..17755939,2	K562	blood:
5	chr17:17583519..17585283-chr17:17719170..17722055,2	MCF-7	breast:
6	chr17:17583640..17587401-chr17:17713270..17717474,6	MCF-7	breast:
7	chr17:17582541..17589441-chr17:17738170..17742091,10	K562	blood:
8	chr17:17583171..17587600-chr17:17683205..17687633,5	MCF-7	breast:
9	chr17:17583267..17584889-chr17:17715443..17717177,2	K562	blood:
10	chr17:17580850..17587926-chr17:17737733..17744809,17	MCF-7	breast:
11	chr17:17582010..17584605-chr17:17704588..17707472,2	K562	blood:
12	chr17:17583537..17586679-chr17:17711908..17715201,3	MCF-7	breast:
13	chr17:17583643..17586896-chr17:17724231..17729521,8	MCF-7	breast:

No data

Variant related genes	Relation type
RAI1	TF binding region
SMCR2	TF binding region
RAI1	CpG island
SMCR2	CpG island
ENSG00000108557	Chromatin interaction
ENSG00000175662	Chromatin interaction
ENSG00000072310	Chromatin interaction
ENSG00000207839	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17576600-17584000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr17:17576600-17584200	Weak transcription	Right Atrium	heart
3	chr17:17576800-17584200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr17:17577000-17584200	Weak transcription	Left Ventricle	heart
5	chr17:17579800-17584200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:17579800-17584200	Weak transcription	Esophagus	oesophagus
7	chr17:17579800-17584200	Weak transcription	NH-A	brain
8	chr17:17580000-17584200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:17580000-17584200	Weak transcription	Fetal Lung	lung
10	chr17:17580000-17584200	Weak transcription	Lung	lung
11	chr17:17580000-17584200	Weak transcription	A549	lung
12	chr17:17580200-17584000	Weak transcription	Fetal Intestine Small	intestine
13	chr17:17580400-17584000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr17:17580400-17584000	Weak transcription	Hela-S3	cervix
15	chr17:17580400-17584200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr17:17580600-17584000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr17:17580600-17584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:17580600-17584000	Weak transcription	Fetal Kidney	kidney
19	chr17:17580600-17584200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr17:17580600-17584200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr17:17580600-17584200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:17580600-17584200	Weak transcription	Thymus	Thymus
23	chr17:17580600-17584400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr17:17580600-17585200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:17580800-17584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:17580800-17584200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr17:17580800-17584200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr17:17580800-17584200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:17580800-17584600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:17581000-17584800	Weak transcription	Primary T cells from cord blood	blood
31	chr17:17581000-17586400	Weak transcription	Fetal Heart	heart
32	chr17:17581200-17584000	Weak transcription	Fetal Intestine Large	intestine
33	chr17:17581200-17584200	Weak transcription	Brain Hippocampus Middle	brain
34	chr17:17581200-17584200	Weak transcription	Spleen	Spleen
35	chr17:17581200-17584200	Weak transcription	NHEK	skin
36	chr17:17581400-17584000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr17:17581400-17584000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr17:17581400-17584000	Weak transcription	HMEC	breast
39	chr17:17581400-17584200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr17:17581400-17584200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr17:17581400-17584200	Weak transcription	GM12878-XiMat	blood
42	chr17:17581400-17584800	Weak transcription	HUVEC	blood vessel
43	chr17:17582000-17584400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:17582000-17584600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr17:17583200-17584000	Bivalent Enhancer	HepG2	liver
46	chr17:17583400-17584000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr17:17583600-17586800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr17:17583800-17584000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr17:17583800-17584000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr17:17583800-17584200	Enhancers	Fetal Muscle Leg	muscle

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