Variant report

Variant	rs544829050
Chromosome Location	chr17:18086042-18086043
allele	A/G
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	CTCF	chr17:18086040-18086190	HCPEpiC	choroid plexus:	n/a	n/a
2	POLR2A	chr17:18086006-18087511	HUVEC	blood vessel:	n/a	n/a
3	CHD1	chr17:18085856-18091134	IMR90	lung:	n/a	n/a
4	MAX	chr17:18085562-18088680	NB4	blood:	n/a	chr17:18086307-18086316 chr17:18086746-18086755 chr17:18087462-18087472
5	POLR2A	chr17:18085856-18087554	MCF-7	breast:	n/a	n/a
6	MXI1	chr17:18085581-18092228	SK-N-SH	brain:	n/a	chr17:18086672-18086687 chr17:18088362-18088377
7	MAZ	chr17:18085859-18088356	K562	blood:	n/a	chr17:18086307-18086316 chr17:18086746-18086755 chr17:18087462-18087472
8	TAF1	chr17:18085982-18087214	A549	lung:	n/a	n/a
9	POLR2A	chr17:18085316-18087349	K562	blood:	n/a	n/a
10	TAF1	chr17:18085995-18087543	ECC-1	luminal epithelium:	n/a	n/a
11	EP300	chr17:18086041-18087344	HepG2	liver:	n/a	chr17:18086399-18086415 chr17:18087269-18087285 chr17:18086409-18086418 chr17:18086716-18086723 chr17:18087109-18087125
12	POLR2A	chr17:18086016-18087617	HUVEC	blood vessel:	n/a	n/a
13	RCOR1	chr17:18085779-18088357	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr17:18085877-18088391	MCF-7	breast:	n/a	n/a
15	SIN3AK20	chr17:18085798-18087375	A549	lung:	n/a	n/a
16	SIN3AK20	chr17:18085861-18088471	MCF-7	breast:	n/a	n/a
17	POLR2A	chr17:18085387-18087616	U87	brain:	n/a	n/a
18	RCOR1	chr17:18085443-18087234	K562	blood:	n/a	n/a
19	POLR2A	chr17:18085171-18087601	HepG2	liver:	n/a	n/a
20	POLR2A	chr17:18086037-18087449	H1-hESC	embryonic stem cell:	n/a	n/a
21	TAF1	chr17:18085912-18087419	H1-hESC	embryonic stem cell:	n/a	n/a
22	IRF1	chr17:18085968-18087482	K562	blood:	n/a	n/a
23	POLR2A	chr17:18085780-18087581	PFSK-1	brain:	n/a	n/a
24	UBTF	chr17:18085932-18086539	K562	blood:	n/a	n/a
25	MAX	chr17:18086000-18086576	MCF-7	breast:	n/a	chr17:18086307-18086316
26	MYC	chr17:18085889-18087329	K562	blood:	n/a	chr17:18086307-18086316 chr17:18086746-18086755
27	MAZ	chr17:18085721-18089121	IMR90	lung:	n/a	chr17:18086307-18086316 chr17:18086746-18086755 chr17:18087462-18087472
28	KAP1	chr17:18085280-18087212	U2OS	brain:	n/a	n/a
29	POLR2A	chr17:18085606-18088111	GM12878	blood:	n/a	n/a
30	POLR2A	chr17:18086033-18087458	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr17:18085947-18087377	PANC-1	pancreas:	n/a	n/a
32	EP300	chr17:18085934-18087403	ECC-1	luminal epithelium:	n/a	chr17:18086399-18086415 chr17:18087269-18087285 chr17:18086409-18086418 chr17:18086716-18086723 chr17:18087109-18087125
33	BRCA1	chr17:18085987-18087458	GM12878	blood:	n/a	n/a
34	SP4	chr17:18086036-18087285	H1-hESC	embryonic stem cell:	n/a	n/a
35	HCFC1	chr17:18085487-18088855	Hela-S3	cervix:	n/a	n/a
36	FOSL2	chr17:18085763-18087427	A549	lung:	n/a	n/a
37	POLR2A	chr17:18085388-18087444	PBDE	blood:	n/a	n/a
38	MTA3	chr17:18085372-18088527	GM12878	blood:	n/a	n/a
39	ZNF263	chr17:18085466-18088545	HEK293-T-REx	kidney:	n/a	n/a
40	ELF1	chr17:18085762-18087800	GM12878	blood:	n/a	chr17:18086407-18086416 chr17:18086408-18086420 chr17:18086417-18086429 chr17:18087221-18087233 chr17:18086714-18086727 chr17:18087293-18087302 chr17:18086413-18086422
41	MYC	chr17:18085901-18088397	K562	blood:	n/a	chr17:18086307-18086316 chr17:18086746-18086755 chr17:18087462-18087472
42	MAX	chr17:18085946-18087516	ECC-1	luminal epithelium:	n/a	chr17:18086307-18086316 chr17:18086746-18086755 chr17:18087462-18087472
43	GATA1	chr17:18085385-18087937	PBDE	blood:	n/a	n/a
44	POLR2A	chr17:18085599-18087441	HCT-116	colon:	n/a	n/a
45	POLR2A	chr17:18085991-18087382	K562	blood:	n/a	n/a
46	POLR2A	chr17:18085540-18087567	K562	blood:	n/a	n/a
47	POLR2A	chr17:18085912-18087545	ECC-1	luminal epithelium:	n/a	n/a
48	CHD2	chr17:18085757-18088505	GM12878	blood:	n/a	n/a
49	NRF1	chr17:18085946-18087536	SK-N-SH	brain:	n/a	chr17:18087099-18087108 chr17:18087130-18087139 chr17:18087217-18087226 chr17:18087044-18087055 chr17:18087128-18087142 chr17:18087044-18087055 chr17:18087085-18087096 chr17:18087085-18087096 chr17:18087515-18087524 chr17:18087125-18087139 chr17:18087079-18087090 chr17:18087041-18087055 chr17:18087047-18087061 chr17:18087128-18087139
50	POLR2A	chr17:18085818-18087484	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70323147..70324094-chr17:18085792..18086327,2	Hela-S3	cervix:
2	chr17:18085827..18086663-chr5:115177264..115177884,2	Hela-S3	cervix:
3	chr17:18085249..18088032-chr17:18163903..18166046,2	MCF-7	breast:
4	chr17:18057350..18061680-chr17:18083813..18088656,8	K562	blood:
5	chr17:18057503..18062681-chr17:18084968..18089396,8	MCF-7	breast:
6	chr17:18085197..18089449-chr17:18160313..18164902,6	K562	blood:
7	chr11:62608619..62609399-chr17:18085958..18086713,2	Hela-S3	cervix:
8	chr17:18061742..18067292-chr17:18083221..18089651,7	K562	blood:
9	chr17:18086032..18088176-chr17:18160313..18162937,3	K562	blood:
10	chr17:18085788..18088045-chr17:18160400..18163100,2	MCF-7	breast:
11	chr17:18085295..18087427-chr9:125026325..125027854,2	MCF-7	breast:
12	chr17:18085097..18087844-chr17:18150702..18152403,2	MCF-7	breast:
13	chr17:18063606..18070028-chr17:18081885..18087934,10	MCF-7	breast:

Variant related genes	Relation type
ALKBH5	TF binding region
ENSG00000157349	Chromatin interaction
ENSG00000119446	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000177427	Chromatin interaction
ENSG00000145782	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000091536	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000177731	Chromatin interaction
ENSG00000148187	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	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	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv907772	chr17:18030524-18098018	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv510702	chr17:18037676-18116801	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	esv3411665	chr17:18085527-18089325	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18085400-18086200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr17:18085400-18086200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
3	chr17:18085400-18086200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:18085400-18086200	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr17:18085400-18086200	Flanking Active TSS	Colonic Mucosa	Colon
6	chr17:18085400-18086200	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr17:18085400-18086400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr17:18085600-18086200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:18085600-18086200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr17:18085600-18086200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr17:18085600-18086200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr17:18085600-18086200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr17:18085600-18086200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:18085600-18086200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr17:18085600-18086200	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr17:18085600-18086200	Flanking Active TSS	Fetal Brain Male	brain
17	chr17:18085600-18086200	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr17:18085600-18086200	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr17:18085600-18086200	Flanking Active TSS	Placenta	Placenta
20	chr17:18085600-18086200	Flanking Active TSS	HUVEC	blood vessel
21	chr17:18085600-18086400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:18085600-18086400	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr17:18085600-18086600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:18085600-18086600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:18085600-18088600	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr17:18085600-18088800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr17:18085600-18088800	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr17:18085600-18089000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:18085600-18090600	Active TSS	Aorta	Aorta
30	chr17:18085800-18086200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:18085800-18086200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr17:18085800-18086200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr17:18085800-18086200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr17:18085800-18086200	Flanking Active TSS	Fetal Brain Female	brain
35	chr17:18085800-18086200	Flanking Active TSS	Fetal Thymus	thymus
36	chr17:18085800-18086400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr17:18085800-18086400	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr17:18085800-18086400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr17:18085800-18086400	Flanking Active TSS	HMEC	breast
40	chr17:18085800-18086600	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr17:18085800-18086600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr17:18085800-18086600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr17:18085800-18087000	Active TSS	Stomach Mucosa	stomach
44	chr17:18085800-18088000	Active TSS	H1 Cell Line	embryonic stem cell
45	chr17:18085800-18088000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr17:18085800-18088000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr17:18085800-18088000	Active TSS	Esophagus	oesophagus
48	chr17:18085800-18088200	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr17:18085800-18088400	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr17:18085800-18088800	Active TSS	Fetal Kidney	kidney

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