Variant report

Variant	rs573557705
Chromosome Location	chr17:18085895-18085896
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	CHD1	chr17:18085856-18091134	IMR90	lung:	n/a	n/a
2	MAX	chr17:18085562-18088680	NB4	blood:	n/a	chr17:18086307-18086316 chr17:18086746-18086755 chr17:18087462-18087472
3	POLR2A	chr17:18085856-18087554	MCF-7	breast:	n/a	n/a
4	MXI1	chr17:18085581-18092228	SK-N-SH	brain:	n/a	chr17:18086672-18086687 chr17:18088362-18088377
5	MAZ	chr17:18085859-18088356	K562	blood:	n/a	chr17:18086307-18086316 chr17:18086746-18086755 chr17:18087462-18087472
6	POLR2A	chr17:18085316-18087349	K562	blood:	n/a	n/a
7	RCOR1	chr17:18085779-18088357	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr17:18085877-18088391	MCF-7	breast:	n/a	n/a
9	SIN3AK20	chr17:18085798-18087375	A549	lung:	n/a	n/a
10	SIN3AK20	chr17:18085861-18088471	MCF-7	breast:	n/a	n/a
11	POLR2A	chr17:18085387-18087616	U87	brain:	n/a	n/a
12	RCOR1	chr17:18085443-18087234	K562	blood:	n/a	n/a
13	POLR2A	chr17:18085171-18087601	HepG2	liver:	n/a	n/a
14	POLR2A	chr17:18085780-18087581	PFSK-1	brain:	n/a	n/a
15	MYC	chr17:18085889-18087329	K562	blood:	n/a	chr17:18086307-18086316 chr17:18086746-18086755
16	MAZ	chr17:18085721-18089121	IMR90	lung:	n/a	chr17:18086307-18086316 chr17:18086746-18086755 chr17:18087462-18087472
17	KAP1	chr17:18085280-18087212	U2OS	brain:	n/a	n/a
18	POLR2A	chr17:18085606-18088111	GM12878	blood:	n/a	n/a
19	POLR2A	chr17:18085536-18086003	U87	brain:	n/a	n/a
20	HCFC1	chr17:18085487-18088855	Hela-S3	cervix:	n/a	n/a
21	FOSL2	chr17:18085763-18087427	A549	lung:	n/a	n/a
22	POLR2A	chr17:18085388-18087444	PBDE	blood:	n/a	n/a
23	MTA3	chr17:18085372-18088527	GM12878	blood:	n/a	n/a
24	ZNF263	chr17:18085466-18088545	HEK293-T-REx	kidney:	n/a	n/a
25	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
26	GATA1	chr17:18085385-18087937	PBDE	blood:	n/a	n/a
27	POLR2A	chr17:18085599-18087441	HCT-116	colon:	n/a	n/a
28	POLR2A	chr17:18085540-18087567	K562	blood:	n/a	n/a
29	CHD2	chr17:18085757-18088505	GM12878	blood:	n/a	n/a
30	POLR2A	chr17:18085818-18087484	A549	lung:	n/a	n/a
31	TCF12	chr17:18085472-18088621	A549	lung:	n/a	n/a
32	HA-E2F1	chr17:18085725-18087353	MCF-7	breast:	n/a	chr17:18087045-18087054 chr17:18087051-18087060 chr17:18086531-18086539 chr17:18087129-18087138 chr17:18086353-18086362 chr17:18086408-18086418 chr17:18086531-18086539 chr17:18086411-18086421 chr17:18086947-18086956 chr17:18086777-18086788 chr17:18087297-18087307 chr17:18086420-18086430 chr17:18086527-18086541 chr17:18086781-18086788
33	POLR2A	chr17:18085779-18088278	GM18505	blood:	n/a	n/a
34	TBP	chr17:18085617-18087393	K562	blood:	n/a	n/a
35	SP1	chr17:18085752-18087335	A549	lung:	n/a	chr17:18087005-18087019 chr17:18087009-18087018 chr17:18087008-18087020 chr17:18087009-18087019 chr17:18087008-18087020 chr17:18086309-18086319 chr17:18087010-18087019
36	POLR2A	chr17:18085890-18088218	HUVEC	blood vessel:	n/a	n/a
37	YY1	chr17:18085810-18086188	K562	blood:	n/a	n/a
38	POLR2A	chr17:18085509-18088813	GM12878	blood:	n/a	n/a
39	POLR2A	chr17:18085765-18087443	HCT-116	colon:	n/a	n/a
40	MXI1	chr17:18085395-18088498	GM12878	blood:	n/a	chr17:18088362-18088377 chr17:18086672-18086687
41	NRF1	chr17:18085764-18085939	GM12878	blood:	n/a	n/a
42	POLR2A	chr17:18085891-18087439	K562	blood:	n/a	n/a
43	POLR2A	chr17:18085858-18085995	A549	lung:	n/a	n/a
44	MAFK	chr17:18085716-18087879	Hela-S3	cervix:	n/a	n/a
45	MYC	chr17:18085610-18087376	NB4	blood:	n/a	chr17:18086307-18086316 chr17:18086746-18086755
46	POLR2A	chr17:18085715-18088151	HEK293	kidney:	n/a	n/a
47	RCOR1	chr17:18085726-18087453	GM12878	blood:	n/a	n/a
48	SMARCB1	chr17:18085791-18088499	Hela-S3	cervix:	n/a	n/a
49	CHD1	chr17:18085568-18085914	GM12878	blood:	n/a	n/a
50	POLR2A	chr17:18085608-18088464	Hela-S3	cervix:	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	chr17:18061742..18067292-chr17:18083221..18089651,7	K562	blood:
8	chr17:18085788..18088045-chr17:18160400..18163100,2	MCF-7	breast:
9	chr17:18085295..18087427-chr9:125026325..125027854,2	MCF-7	breast:
10	chr17:18085097..18087844-chr17:18150702..18152403,2	MCF-7	breast:
11	chr17:18063606..18070028-chr17:18081885..18087934,10	MCF-7	breast:

Variant related genes	Relation type
ALKBH5	TF binding region
ENSG00000157349	Chromatin interaction
ENSG00000145782	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000091536	Chromatin interaction
ENSG00000177731	Chromatin interaction
ENSG00000119446	Chromatin interaction
ENSG00000177427	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	chr17:18076000-18086000	Weak transcription	Ovary	ovary
2	chr17:18084400-18086000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:18084400-18086000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr17:18085000-18086000	Enhancers	Gastric	stomach
5	chr17:18085000-18086000	Flanking Active TSS	Dnd41	blood
6	chr17:18085000-18086000	Flanking Active TSS	K562	blood
7	chr17:18085200-18086000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr17:18085400-18086000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:18085400-18086000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:18085400-18086000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr17:18085400-18086000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr17:18085400-18086000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:18085400-18086000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr17:18085400-18086000	Enhancers	Fetal Heart	heart
15	chr17:18085400-18086000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr17:18085400-18086000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr17:18085400-18086000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr17:18085400-18086000	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr17:18085400-18086000	Enhancers	Spleen	Spleen
20	chr17:18085400-18086000	Flanking Active TSS	A549	lung
21	chr17:18085400-18086000	Flanking Active TSS	GM12878-XiMat	blood
22	chr17:18085400-18086000	Flanking Active TSS	Hela-S3	cervix
23	chr17:18085400-18086000	Flanking Active TSS	HepG2	liver
24	chr17:18085400-18086000	Flanking Active TSS	Osteobl	bone
25	chr17:18085400-18086200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr17:18085400-18086200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:18085400-18086200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:18085400-18086200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr17:18085400-18086200	Flanking Active TSS	Colonic Mucosa	Colon
30	chr17:18085400-18086200	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr17:18085400-18086400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr17:18085600-18086000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr17:18085600-18086000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:18085600-18086000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:18085600-18086000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr17:18085600-18086000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr17:18085600-18086000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:18085600-18086000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr17:18085600-18086000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr17:18085600-18086000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr17:18085600-18086000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr17:18085600-18086000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:18085600-18086000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr17:18085600-18086000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:18085600-18086000	Flanking Active TSS	Liver	Liver
46	chr17:18085600-18086000	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr17:18085600-18086000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr17:18085600-18086000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr17:18085600-18086000	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr17:18085600-18086000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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