Variant report

Variant	rs564649442
Chromosome Location	chr17:18127864-18127865
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	ATF2	chr17:18127659-18128609	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr17:18127677-18128387	HepG2	liver:	n/a	n/a
3	CEBPB	chr17:18127531-18128523	H1-hESC	embryonic stem cell:	n/a	n/a
4	CREB1	chr17:18127504-18129217	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr17:18127420-18128777	H1-hESC	embryonic stem cell:	n/a	n/a
6	RFX5	chr17:18127469-18128679	H1-hESC	embryonic stem cell:	n/a	n/a
7	ELF1	chr17:18127364-18127988	HepG2	liver:	n/a	n/a
8	ARID3A	chr17:18127583-18128021	HepG2	liver:	n/a	n/a
9	SRF	chr17:18127688-18127922	HepG2	liver:	n/a	chr17:18127826-18127839
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	HNF4A	chr17:18127721-18128035	HepG2	liver:	n/a	chr17:18127912-18127924 chr17:18127911-18127924 chr17:18127911-18127925 chr17:18127912-18127924 chr17:18127910-18127925 chr17:18127911-18127924 chr17:18127911-18127924
13	BACH1	chr17:18127800-18129072	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZBTB7A	chr17:18127809-18128067	HepG2	liver:	n/a	n/a
15	HMGN3	chr17:18127779-18127979	K562	blood:	n/a	n/a
16	TCF12	chr17:18127800-18128051	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr17:18127535-18127962	K562	blood:	n/a	n/a
18	MXI1	chr17:18127693-18129637	HepG2	liver:	n/a	n/a
19	USF2	chr17:18127587-18128783	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr17:18127667-18128553	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr17:18127659-18128443	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAZ	chr17:18127696-18128954	HepG2	liver:	n/a	n/a
23	POLR2A	chr17:18127392-18129219	HepG2	liver:	n/a	n/a
24	ATF2	chr17:18127515-18127982	H1-hESC	embryonic stem cell:	n/a	n/a
25	TBP	chr17:18127453-18129018	H1-hESC	embryonic stem cell:	n/a	n/a
26	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
27	MAZ	chr17:18127380-18130016	IMR90	lung:	n/a	n/a
28	NFIC	chr17:18127784-18128157	HepG2	liver:	n/a	n/a
29	TAF1	chr17:18127705-18129075	H1-hESC	embryonic stem cell:	n/a	n/a
30	ELF1	chr17:18127616-18127997	GM12878	blood:	n/a	n/a
31	HEY1	chr17:18127858-18128154	HepG2	liver:	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	EGR1	chr17:18127752-18127924	K562	blood:	n/a	chr17:18127861-18127872 chr17:18127861-18127872 chr17:18127860-18127874 chr17:18127863-18127872
39	TBP	chr17:18127527-18128584	HepG2	liver:	n/a	n/a
40	EP300	chr17:18127669-18128734	HepG2	liver:	n/a	n/a
41	POLR2A	chr17:18127351-18129326	H1-hESC	embryonic stem cell:	n/a	n/a
42	SP4	chr17:18127836-18128758	H1-hESC	embryonic stem cell:	n/a	n/a
43	MBD4	chr17:18127473-18128048	HepG2	liver:	n/a	n/a
44	EGR1	chr17:18127638-18128104	H1-hESC	embryonic stem cell:	n/a	chr17:18127861-18127872 chr17:18127861-18127872 chr17:18127860-18127874 chr17:18127863-18127872
45	YY1	chr17:18127643-18128224	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYBL2	chr17:18127593-18128780	HepG2	liver:	n/a	n/a
47	MAX	chr17:18127742-18127953	HepG2	liver:	n/a	n/a
48	POLR2A	chr17:18127774-18128187	HepG2	liver:	n/a	n/a
49	CREB1	chr17:18127687-18129222	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr17:18127568-18128307	HepG2	liver:	n/a	n/a

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:

Variant related genes	Relation type
LLGL1	TF binding region
ENSG00000266677	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000260647	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000091542	Chromatin interaction
ENSG00000177427	Chromatin interaction
ENSG00000177731	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18113000-18128200	Weak transcription	Small Intestine	intestine
2	chr17:18113200-18128200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr17:18113600-18128000	Weak transcription	Colon Smooth Muscle	Colon
4	chr17:18113800-18128200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr17:18114400-18128200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:18114600-18128000	Weak transcription	Brain Germinal Matrix	brain
7	chr17:18114600-18128000	Weak transcription	Fetal Brain Female	brain
8	chr17:18114600-18128000	Weak transcription	Lung	lung
9	chr17:18114600-18128000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr17:18114600-18128200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:18114600-18128200	Weak transcription	Liver	Liver
12	chr17:18114600-18128200	Weak transcription	Brain Angular Gyrus	brain
13	chr17:18114600-18128200	Weak transcription	Brain Anterior Caudate	brain
14	chr17:18114600-18128200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr17:18114600-18128200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr17:18114600-18128200	Weak transcription	Esophagus	oesophagus
17	chr17:18114600-18128200	Weak transcription	Thymus	Thymus
18	chr17:18114600-18128200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr17:18114600-18128400	Weak transcription	Ovary	ovary
20	chr17:18114600-18128400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr17:18114800-18128200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr17:18114800-18128200	Weak transcription	Fetal Thymus	thymus
23	chr17:18114800-18128400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:18116200-18128200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr17:18121600-18128400	Weak transcription	Gastric	stomach
26	chr17:18122600-18128200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr17:18122800-18128000	Weak transcription	Brain Hippocampus Middle	brain
28	chr17:18122800-18128000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr17:18122800-18128000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr17:18122800-18128000	Weak transcription	HSMMtube	muscle
31	chr17:18122800-18128200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:18124200-18128200	Weak transcription	Right Atrium	heart
33	chr17:18124800-18128000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:18124800-18128200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:18124800-18128200	Weak transcription	HSMM	muscle
36	chr17:18125000-18128000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:18125000-18128000	Weak transcription	A549	lung
38	chr17:18125000-18128000	Weak transcription	K562	blood
39	chr17:18125000-18128200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:18125000-18128200	Weak transcription	GM12878-XiMat	blood
41	chr17:18125200-18128200	Weak transcription	HUVEC	blood vessel
42	chr17:18127400-18128000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr17:18127400-18128000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr17:18127400-18128000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr17:18127400-18128000	Enhancers	Fetal Lung	lung
46	chr17:18127400-18128000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr17:18127400-18128000	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr17:18127400-18128200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr17:18127400-18128200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:18127400-18128200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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