Variant report

Variant	rs538595406
Chromosome Location	chr17:18087147-18087148
allele	C/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	MAFK	chr17:18086185-18087295	K562	blood:	n/a	n/a
2	NFIC	chr17:18086093-18087535	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr17:18086107-18087375	K562	blood:	n/a	n/a
4	MYC	chr17:18086718-18087286	MCF-7	breast:	n/a	chr17:18086746-18086755
5	MXI1	chr17:18086145-18087400	Hela-S3	cervix:	n/a	chr17:18086672-18086687
6	TAF1	chr17:18086129-18087376	ECC-1	luminal epithelium:	n/a	n/a
7	HA-E2F1	chr17:18086233-18088252	Hela-S3	cervix:	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 chr17:18087515-18087524 chr17:18086781-18086788
8	ZNF143	chr17:18086080-18087410	H1-hESC	embryonic stem cell:	n/a	chr17:18086404-18086414
9	RFX5	chr17:18086113-18087371	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr17:18086006-18087511	HUVEC	blood vessel:	n/a	n/a
11	CHD1	chr17:18085856-18091134	IMR90	lung:	n/a	n/a
12	CCNT2	chr17:18086198-18088353	K562	blood:	n/a	chr17:18087009-18087018
13	MAX	chr17:18085562-18088680	NB4	blood:	n/a	chr17:18086307-18086316 chr17:18086746-18086755 chr17:18087462-18087472
14	TAL1	chr17:18086261-18087360	K562	blood:	n/a	n/a
15	E2F4	chr17:18086071-18087485	K562	blood:	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 chr17:18087297-18087307 chr17:18086420-18086430 chr17:18086527-18086541 chr17:18086781-18086788
16	GABPA	chr17:18086425-18087274	K562	blood:	n/a	chr17:18087099-18087108 chr17:18087130-18087139 chr17:18087217-18087226 chr17:18087044-18087055 chr17:18087128-18087142 chr17:18087085-18087096 chr17:18087125-18087139 chr17:18087079-18087090 chr17:18087041-18087055 chr17:18087047-18087061 chr17:18087128-18087139
17	MYC	chr17:18086263-18087239	H1-hESC	embryonic stem cell:	n/a	chr17:18086307-18086316 chr17:18086746-18086755
18	TBL1XR1	chr17:18086148-18087460	K562	blood:	n/a	n/a
19	HDAC2	chr17:18086089-18087566	MCF-7	breast:	n/a	chr17:18087130-18087139
20	POLR2A	chr17:18085856-18087554	MCF-7	breast:	n/a	n/a
21	MXI1	chr17:18085581-18092228	SK-N-SH	brain:	n/a	chr17:18086672-18086687 chr17:18088362-18088377
22	FOSL2	chr17:18086202-18087266	HepG2	liver:	n/a	n/a
23	MYC	chr17:18086159-18087210	MCF10A-Er-Src	breast:	n/a	chr17:18086307-18086316 chr17:18086746-18086755
24	MAZ	chr17:18085859-18088356	K562	blood:	n/a	chr17:18086307-18086316 chr17:18086746-18086755 chr17:18087462-18087472
25	RELA	chr17:18086066-18087294	GM19099	blood:	n/a	n/a
26	TAF1	chr17:18085982-18087214	A549	lung:	n/a	n/a
27	POLR2A	chr17:18085316-18087349	K562	blood:	n/a	n/a
28	TAF1	chr17:18085995-18087543	ECC-1	luminal epithelium:	n/a	n/a
29	ZNF143	chr17:18086235-18087403	GM12878	blood:	n/a	chr17:18086404-18086414
30	CREB1	chr17:18086091-18087824	HepG2	liver:	n/a	n/a
31	ZNF143	chr17:18086439-18087324	K562	blood:	n/a	n/a
32	EP300	chr17:18086041-18087344	HepG2	liver:	n/a	chr17:18086399-18086415 chr17:18087269-18087285 chr17:18086409-18086418 chr17:18086716-18086723 chr17:18087109-18087125
33	NRF1	chr17:18086271-18087956	GM12878	blood:	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
34	POLR2A	chr17:18086016-18087617	HUVEC	blood vessel:	n/a	n/a
35	STAT1	chr17:18086169-18087425	GM12878	blood:	n/a	chr17:18086712-18086732
36	POLR2A	chr17:18086154-18088445	K562	blood:	n/a	n/a
37	ZBTB7A	chr17:18086703-18087747	ECC-1	luminal epithelium:	n/a	chr17:18087474-18087482
38	CREB1	chr17:18086096-18087374	K562	blood:	n/a	n/a
39	RCOR1	chr17:18085779-18088357	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr17:18085877-18088391	MCF-7	breast:	n/a	n/a
41	ELF1	chr17:18086463-18087189	HepG2	liver:	n/a	chr17:18086714-18086727
42	POLR2A	chr17:18086064-18087434	K562	blood:	n/a	n/a
43	SIN3AK20	chr17:18085798-18087375	A549	lung:	n/a	n/a
44	MAX	chr17:18086332-18087268	H1-hESC	embryonic stem cell:	n/a	chr17:18086746-18086755
45	MYC	chr17:18086624-18087178	HUVEC	blood vessel:	n/a	chr17:18086746-18086755
46	JUND	chr17:18086426-18087233	HepG2	liver:	n/a	n/a
47	RUNX3	chr17:18086174-18087309	GM12878	blood:	n/a	n/a
48	SIN3AK20	chr17:18085861-18088471	MCF-7	breast:	n/a	n/a
49	POLR2A	chr17:18085387-18087616	U87	brain:	n/a	n/a
50	MYBL2	chr17:18086198-18087176	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:18086297..18088229-chr17:18161732..18163616,2	MCF-7	breast:
2	chr17:18085249..18088032-chr17:18163903..18166046,2	MCF-7	breast:
3	chr17:18057350..18061680-chr17:18083813..18088656,8	K562	blood:
4	chr17:18057503..18062681-chr17:18084968..18089396,8	MCF-7	breast:
5	chr17:18086116..18088007-chr17:18126945..18129861,2	K562	blood:
6	chr17:18085197..18089449-chr17:18160313..18164902,6	K562	blood:
7	chr17:18059406..18063498-chr17:18086302..18089651,4	K562	blood:
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	chr17:18086084..18087983-chr17:18217517..18220819,3	MCF-7	breast:
13	chr17:18087075..18087717-chr22:46692104..46692982,2	NB4	blood:
14	chr17:18085097..18087844-chr17:18150702..18152403,2	MCF-7	breast:
15	chr17:18063606..18070028-chr17:18081885..18087934,10	MCF-7	breast:

Variant related genes	Relation type
ALKBH5	TF binding region
ENSG00000131899	Chromatin interaction
ENSG00000091536	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000119446	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000177427	Chromatin interaction
ENSG00000148187	Chromatin interaction
ENSG00000177731	Chromatin interaction
ENSG00000075218	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	esv3376987	chr17:18086452-18089000	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr17:18085600-18088600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr17:18085600-18088800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr17:18085600-18088800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr17:18085600-18089000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:18085600-18090600	Active TSS	Aorta	Aorta
6	chr17:18085800-18088000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr17:18085800-18088000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:18085800-18088000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:18085800-18088000	Active TSS	Esophagus	oesophagus
10	chr17:18085800-18088200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr17:18085800-18088400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr17:18085800-18088800	Active TSS	Fetal Kidney	kidney
13	chr17:18085800-18088800	Active TSS	Psoas Muscle	Psoas
14	chr17:18085800-18089000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr17:18085800-18089000	Active TSS	Small Intestine	intestine
16	chr17:18085800-18089200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr17:18085800-18089400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr17:18085800-18090200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr17:18085800-18090600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr17:18086000-18087400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr17:18086000-18087400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:18086000-18087800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:18086000-18087800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:18086000-18087800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:18086000-18087800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:18086000-18087800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:18086000-18087800	Active TSS	Fetal Stomach	stomach
28	chr17:18086000-18087800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr17:18086000-18087800	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr17:18086000-18087800	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr17:18086000-18087800	Active TSS	Dnd41	blood
32	chr17:18086000-18087800	Active TSS	HepG2	liver
33	chr17:18086000-18087800	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr17:18086000-18088000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:18086000-18088000	Active TSS	Liver	Liver
36	chr17:18086000-18088000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:18086000-18088000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr17:18086000-18088000	Active TSS	Fetal Intestine Small	intestine
39	chr17:18086000-18088000	Active TSS	Placenta Amnion	Placenta Amnion
40	chr17:18086000-18088000	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr17:18086000-18088000	Active TSS	Right Ventricle	heart
42	chr17:18086000-18088200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:18086000-18088200	Active TSS	Primary T cells from cord blood	blood
44	chr17:18086000-18088200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr17:18086000-18088200	Active TSS	Muscle Satellite Cultured Cells	--
46	chr17:18086000-18088200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:18086000-18088200	Active TSS	Brain Cingulate Gyrus	brain
48	chr17:18086000-18088200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr17:18086000-18088200	Active TSS	Brain Substantia Nigra	brain
50	chr17:18086000-18088200	Active TSS	Fetal Intestine Large	intestine

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