Variant report

Variant	esv3392896
Chromosome Location	chr18:12062452-12066650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:12064514-12064577	NHEK	skin:	n/a	n/a
2	CTCF	chr18:12064578-12064639	ProgFib	skin:	n/a	n/a
3	CTCF	chr18:12064512-12064580	MCF-7	breast:	n/a	n/a
4	CTCF	chr18:12064450-12064676	GM19239	blood:	n/a	n/a
5	CTCF	chr18:12064535-12064568	Fibrobl	skin:	n/a	n/a
6	MYC	chr18:12064513-12064593	MCF-7	breast:	n/a	n/a
7	MYC	chr18:12064562-12064666	GM12878	blood:	n/a	n/a
8	MYC	chr18:12064594-12064608	MCF-7	breast:	n/a	n/a
9	NR2F2	chr18:12062859-12063183	K562	blood:	n/a	n/a
10	NR2F2	chr18:12062808-12063304	MCF-7	breast:	n/a	n/a
11	POLR2A	chr18:12064509-12064640	Gliobla	brain:	n/a	n/a
12	POLR2A	chr18:12066625-12066839	K562	blood:	n/a	n/a
13	POLR2A	chr18:12064570-12064657	A549	lung:	n/a	n/a
14	POLR2A	chr18:12064497-12064565	A549	lung:	n/a	n/a
15	SPI1	chr18:12066418-12066540	K562	blood:	n/a	n/a
16	SUZ12	chr18:12064355-12064744	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12064388-12064438	NHDF-neo	bronchial:	n/a
2	chr18:12064388-12064438	AoSMC	blood vessel:	n/a
3	chr18:12064388-12064438	AG04450	lung:	fetal
4	chr18:12064388-12064438	ECC-1	luminal epithelium:	n/a
5	chr18:12064388-12064438	Caco-2	colon:	n/a
6	chr18:12064388-12064438	GM12891	blood:	n/a
7	chr18:12064388-12064438	NT2-D1	testis:	n/a
8	chr18:12064388-12064438	SK-N-SH	brain:	n/a
9	chr18:12064388-12064438	HL-60	blood:	n/a
10	chr18:12064388-12064438	NB4	blood:	n/a
11	chr18:12064388-12064438	AG09309	skin:	n/a
12	chr18:12064388-12064438	HEK293	kidney:	embryo
13	chr18:12064388-12064438	MCF-7	breast:	n/a
14	chr18:12064388-12064438	BE2_C	brain:	n/a
15	chr18:12064388-12064438	AG09319	gingival:	n/a
16	chr18:12064388-12064438	HCT-116	colon:	n/a
17	chr18:12064388-12064438	Jurkat	blood:	n/a
18	chr18:12064388-12064438	GM12892	blood:	n/a
19	chr18:12064388-12064438	U87	brain:	n/a
20	chr18:12064388-12064438	Hela-S3	cervix:	n/a
21	chr18:12064388-12064438	K562	blood:	n/a
22	chr18:12064388-12064438	IMR90	lung:	fetal
23	chr18:12064388-12064438	SAEC	small airway:	n/a
24	chr18:12064388-12064438	HUVEC	blood vessel:	n/a
25	chr18:12064388-12064438	HepG2	liver:	n/a
26	chr18:12064388-12064438	SK-N-SH_RA	brain:	n/a
27	chr18:12064388-12064438	HRE	kidney:	n/a
28	chr18:12064388-12064438	GM19239	blood:	n/a
29	chr18:12064388-12064438	Hepatocyte	liver:	n/a
30	chr18:12064388-12064438	SKMC	muscle:	n/a
31	chr18:12064388-12064438	SK-N-MC	brain:	n/a
32	chr18:12064388-12064438	PrEC	prostate:	n/a
33	chr18:12064388-12064438	NH-A	brain:	n/a
34	chr18:12064388-12064438	HCPEpiC	choroid plexus:	n/a
35	chr18:12064388-12064438	AG04449	skin:	fetal
36	chr18:12064388-12064438	RPTEC	kidney:	n/a
37	chr18:12064388-12064438	HIPEpiC	eye:	n/a
38	chr18:12064388-12064438	AG10803	skin:	n/a
39	chr18:12064388-12064438	GM06990	blood:	n/a
40	chr18:12064388-12064438	PANC-1	pancreas:	n/a
41	chr18:12064388-12064438	CMK	blood:	n/a
42	chr18:12064388-12064438	HCF	heart:	n/a
43	chr18:12064388-12064438	GM12878	blood:	n/a
44	chr18:12064388-12064438	HEEpiC	esophagus:	n/a
45	chr18:12064388-12064438	H1-hESC	embryonic stem cell:	embryo
46	chr18:12064388-12064438	HRPEpiC	eye:	n/a
47	chr18:12064388-12064438	LNCaP	prostate:	n/a
48	chr18:12064388-12064438	HPAEpiC	pulmonary alveolar:	n/a
49	chr18:12064388-12064438	MCF10A-Er-Src	breast:	n/a
50	chr18:12064388-12064438	NHBE	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12063010..12065990-chr19:13351067..13352603,2	MCF-7	breast:
2	chr18:12057151..12059400-chr18:12062481..12064510,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212712	TF binding region
ENSG00000212712	CpG island
ENSG00000212712	chromatin interactions

Extended variants
information (count: 217 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560893538	chr18:12062453-12062454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555152535	chr18:12062459-12062460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531226588	chr18:12062476-12062477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186127622	chr18:12062477-12062478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565041513	chr18:12062485-12062486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113349329	chr18:12062553-12062554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs28567958	chr18:12062582-12062583	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs34222301	chr18:12062597-12062598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547235072	chr18:12062603-12062604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566618384	chr18:12062623-12062624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527815898	chr18:12062672-12062673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540957491	chr18:12062691-12062692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567622573	chr18:12062703-12062704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537871214	chr18:12062724-12062725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190479288	chr18:12062732-12062733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550410996	chr18:12062742-12062743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182499425	chr18:12062773-12062774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539233823	chr18:12062786-12062787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146066849	chr18:12062815-12062816	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs36127635	chr18:12062836-12062837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574783003	chr18:12062839-12062840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs57346314	chr18:12062906-12062907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs386801338	chr18:12062907-12062908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs57094398	chr18:12062908-12062909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs55948118	chr18:12062915-12062916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs28410297	chr18:12062916-12062917	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs28733337	chr18:12062917-12062918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs28367870	chr18:12062925-12062926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs78802697	chr18:12062928-12062929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374888326	chr18:12062933-12062934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377400487	chr18:12062936-12062937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370141321	chr18:12062939-12062940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs376300242	chr18:12062942-12062943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368524486	chr18:12062951-12062952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372077735	chr18:12062954-12062955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34540165	chr18:12062955-12062956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs575952502	chr18:12062984-12062985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11875970	chr18:12062985-12062986	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs185894580	chr18:12063061-12063062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs117100902	chr18:12063062-12063063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540813617	chr18:12063084-12063085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374020125	chr18:12063105-12063106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530640555	chr18:12063125-12063126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11873851	chr18:12063128-12063129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12607394	chr18:12063145-12063146	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11876652	chr18:12063175-12063176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs11876694	chr18:12063219-12063220	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs143910306	chr18:12063224-12063225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369073056	chr18:12063230-12063231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373166056	chr18:12063231-12063232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12054200-12063400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:12055600-12076400	Weak transcription	Right Atrium	heart
3	chr18:12060800-12064400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:12062000-12064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr18:12062000-12064400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:12062200-12064400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:12063000-12063200	Enhancers	Right Ventricle	heart
8	chr18:12063600-12064000	Enhancers	Fetal Muscle Trunk	muscle
9	chr18:12064400-12064600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:12064400-12064600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
11	chr18:12064400-12064800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:12064400-12064800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:12064400-12064800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:12064600-12064800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr18:12064600-12067000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:12064800-12065000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr18:12064800-12065400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr18:12065800-12066000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr18:12066000-12076400	Weak transcription	H9 Cell Line	embryonic stem cell

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