Variant report

Variant	esv16174
Chromosome Location	chr18:12060305-12061210
allele	n/a
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	chr18:12060258-12060397	Gliobla	brain:	n/a	n/a
2	CTCF	chr18:12060305-12060368	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr18:12060292-12060371	LNCaP	prostate:	n/a	n/a
4	FOS	chr18:12060223-12060392	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr18:12060207-12060382	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr18:12060192-12060453	MCF10A-Er-Src	breast:	n/a	n/a
7	MXI1	chr18:12059347-12060582	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr18:12059848-12060535	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr18:12059827-12060338	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000212712	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371053945	chr18:12060322-12060323	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs531153167	chr18:12060333-12060334	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs7242326	chr18:12060357-12060358	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs116022015	chr18:12060383-12060384	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs528707565	chr18:12060412-12060413	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs187498634	chr18:12060413-12060414	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs567817491	chr18:12060422-12060423	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs535079574	chr18:12060433-12060434	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs7242892	chr18:12060434-12060435	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs569117551	chr18:12060445-12060446	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs148232369	chr18:12060542-12060543	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs192343073	chr18:12060543-12060544	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs558053107	chr18:12060552-12060553	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs34253363	chr18:12060560-12060561	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs537339094	chr18:12060603-12060604	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs75797741	chr18:12060619-12060620	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs12965804	chr18:12060620-12060621	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs567648823	chr18:12060627-12060628	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs575036344	chr18:12060667-12060668	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs184739619	chr18:12060684-12060685	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs563566260	chr18:12060686-12060687	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531214999	chr18:12060688-12060689	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs12965831	chr18:12060689-12060690	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs188829996	chr18:12060707-12060708	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs12966286	chr18:12060712-12060713	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs12965945	chr18:12060725-12060726	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs567805338	chr18:12060738-12060739	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs528988357	chr18:12060746-12060747	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs374896184	chr18:12060761-12060762	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs73947228	chr18:12060802-12060803	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550483294	chr18:12060803-12060804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs59800924	chr18:12060836-12060837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377486585	chr18:12060891-12060892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539432457	chr18:12060999-12061000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557725811	chr18:12061042-12061043	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566763849	chr18:12061108-12061109	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71172048	chr18:12061119-12061120	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533975537	chr18:12061120-12061121	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111883686	chr18:12061144-12061145	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574973232	chr18:12061155-12061156	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192609967	chr18:12061173-12061174	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535982639	chr18:12061190-12061191	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557450521	chr18:12061196-12061197	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115023924	chr18:12061198-12061199	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:10 , 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	chr18:12056400-12061600	Weak transcription	Spleen	Spleen
4	chr18:12059800-12060800	Enhancers	A549	lung
5	chr18:12060000-12060600	Active TSS	Brain Angular Gyrus	brain
6	chr18:12060000-12060800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:12060000-12060800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:12060200-12061000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:12060800-12064400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:12061000-12062200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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