Variant report

Variant	rs562470672
Chromosome Location	chr17:18128315-18128316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:18128270-18128730	U87	brain:	n/a	n/a
2	ATF2	chr17:18127659-18128609	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr17:18127677-18128387	HepG2	liver:	n/a	n/a
4	CEBPB	chr17:18127531-18128523	H1-hESC	embryonic stem cell:	n/a	n/a
5	CREB1	chr17:18127504-18129217	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr17:18127420-18128777	H1-hESC	embryonic stem cell:	n/a	n/a
7	KAP1	chr17:18127972-18128703	U2OS	brain:	n/a	n/a
8	RFX5	chr17:18127469-18128679	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr17:18128080-18129020	NB4	blood:	n/a	n/a
10	TAF7	chr17:18127687-18128489	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3AK20	chr17:18127336-18128482	H1-hESC	embryonic stem cell:	n/a	n/a
12	NRF1	chr17:18128159-18128798	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr17:18127800-18129072	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr17:18127940-18128566	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr17:18127693-18129637	HepG2	liver:	n/a	n/a
16	USF2	chr17:18127587-18128783	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr17:18127667-18128553	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr17:18127659-18128443	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAZ	chr17:18127696-18128954	HepG2	liver:	n/a	n/a
20	SP1	chr17:18127880-18128536	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr17:18127392-18129219	HepG2	liver:	n/a	n/a
22	MAX	chr17:18128273-18128874	A549	lung:	n/a	n/a
23	TBP	chr17:18127453-18129018	H1-hESC	embryonic stem cell:	n/a	n/a
24	SP1	chr17:18127803-18128874	H1-hESC	embryonic stem cell:	n/a	chr17:18128792-18128802 chr17:18128791-18128803 chr17:18128792-18128802 chr17:18128793-18128802 chr17:18128793-18128802 chr17:18128792-18128801 chr17:18128791-18128803
25	MAX	chr17:18128296-18129152	A549	lung:	n/a	n/a
26	TBP	chr17:18128202-18129019	K562	blood:	n/a	n/a
27	MAZ	chr17:18128298-18129524	GM12878	blood:	n/a	n/a
28	POLR2A	chr17:18127900-18129193	HEK293	kidney:	n/a	n/a
29	MAZ	chr17:18127380-18130016	IMR90	lung:	n/a	n/a
30	TAF1	chr17:18127705-18129075	H1-hESC	embryonic stem cell:	n/a	n/a
31	SMC3	chr17:18128293-18128731	Hela-S3	cervix:	n/a	n/a
32	ZNF143	chr17:18127459-18129943	H1-hESC	embryonic stem cell:	n/a	chr17:18128689-18128707 chr17:18128689-18128698 chr17:18128691-18128700
33	POLR2A	chr17:18127455-18128716	HepG2	liver:	n/a	n/a
34	CTBP2	chr17:18127453-18128791	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr17:18127236-18128834	H1-hESC	embryonic stem cell:	n/a	n/a
36	MXI1	chr17:18127592-18128817	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr17:18127518-18128666	H1-hESC	embryonic stem cell:	n/a	n/a
38	TBL1XR1	chr17:18128300-18128790	K562	blood:	n/a	n/a
39	RCOR1	chr17:18128280-18129044	K562	blood:	n/a	n/a
40	HCFC1	chr17:18128011-18129718	Hela-S3	cervix:	n/a	n/a
41	TBP	chr17:18127527-18128584	HepG2	liver:	n/a	n/a
42	BHLHE40	chr17:18128203-18128848	K562	blood:	n/a	n/a
43	RCOR1	chr17:18128135-18129057	Hela-S3	cervix:	n/a	n/a
44	EP300	chr17:18127669-18128734	HepG2	liver:	n/a	n/a
45	POLR2A	chr17:18127351-18129326	H1-hESC	embryonic stem cell:	n/a	n/a
46	HCFC1	chr17:18128177-18129139	K562	blood:	n/a	n/a
47	SP4	chr17:18127836-18128758	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZNF143	chr17:18128200-18129736	GM12878	blood:	n/a	chr17:18128689-18128707 chr17:18128689-18128698 chr17:18128691-18128700
49	CUX1	chr17:18128255-18128744	K562	blood:	n/a	n/a
50	MYBL2	chr17:18127593-18128780	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18127100..18135567-chr17:18158023..18168767,25	MCF-7	breast:
2	chr17:18127536..18130433-chr17:18148836..18151541,2	MCF-7	breast:
3	chr17:18127269..18131326-chr17:18216439..18220320,6	MCF-7	breast:
4	chr17:18086116..18088007-chr17:18126945..18129861,2	K562	blood:
5	chr17:18127264..18129965-chr17:18170745..18172525,2	K562	blood:
6	chr17:18125152..18133137-chr17:18145532..18152012,9	K562	blood:
7	chr17:18127210..18129786-chr17:18153749..18156676,2	MCF-7	breast:
8	chr17:18127671..18130325-chr17:18161981..18165246,3	K562	blood:
9	chr17:18126073..18132705-chr17:18158327..18165323,14	MCF-7	breast:

No data

Variant related genes	Relation type
LLGL1	TF binding region
ENSG00000266677	Chromatin interaction
ENSG00000260647	Chromatin interaction
ENSG00000177427	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000177731	Chromatin interaction
ENSG00000091542	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	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
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv1062828	chr17:18098110-18136330	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv543245	chr17:18098110-18136330	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
13	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
14	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
15	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	esv3440348	chr17:18127752-18130600	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
17	esv3378937	chr17:18128027-18130225	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 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	chr17:18114600-18128400	Weak transcription	Ovary	ovary
2	chr17:18114600-18128400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:18114800-18128400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:18121600-18128400	Weak transcription	Gastric	stomach
5	chr17:18127400-18128400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr17:18127400-18128400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr17:18127400-18128400	Enhancers	NHLF	lung
8	chr17:18127400-18128600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:18127400-18128600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr17:18127400-18128800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:18127400-18128800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr17:18127400-18128800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:18127400-18129200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:18127400-18130000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr17:18127600-18128400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr17:18127600-18128600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:18127600-18129800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr17:18127800-18128400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr17:18127800-18128400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr17:18127800-18128400	Enhancers	Pancreas	Pancrea
21	chr17:18127800-18128400	Enhancers	HMEC	breast
22	chr17:18127800-18128600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr17:18127800-18128600	Flanking Active TSS	Right Ventricle	heart
24	chr17:18127800-18128600	Enhancers	Spleen	Spleen
25	chr17:18127800-18128600	Flanking Active TSS	Osteobl	bone
26	chr17:18127800-18129200	Enhancers	Fetal Brain Male	brain
27	chr17:18127800-18129400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:18127800-18129800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr17:18127800-18129800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:18127800-18129800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr17:18127800-18129800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr17:18127800-18130200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr17:18128000-18128400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr17:18128000-18128400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:18128000-18128400	Enhancers	Left Ventricle	heart
36	chr17:18128000-18128400	Enhancers	Lung	lung
37	chr17:18128000-18128600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:18128000-18128600	Flanking Active TSS	Fetal Lung	lung
39	chr17:18128000-18128600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr17:18128000-18128600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr17:18128000-18128600	Flanking Active TSS	Hela-S3	cervix
42	chr17:18128000-18128800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr17:18128000-18128800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr17:18128000-18129200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr17:18128000-18129600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:18128000-18129600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr17:18128000-18129600	Bivalent/Poised TSS	HepG2	liver
48	chr17:18128000-18129800	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr17:18128000-18130600	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr17:18128200-18128400	Active TSS	H1 Cell Line	embryonic stem cell

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