Variant report

Variant	esv3327481
Chromosome Location	chr18:14533552-14539750
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	ESR1	chr18:14534533-14534959	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
RNU6-1021P	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372429579	chr18:14534550-14534551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs543611009	chr18:14534571-14534572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557521774	chr18:14534579-14534580	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs577509896	chr18:14534585-14534586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs546452891	chr18:14534593-14534594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs530467322	chr18:14534671-14534672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs564905903	chr18:14534688-14534689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs550258268	chr18:14534699-14534700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs112494500	chr18:14534729-14534730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs572034760	chr18:14534744-14534745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201739749	chr18:14534825-14534826	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs192429247	chr18:14534867-14534868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs374101569	chr18:14534871-14534872	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs541132979	chr18:14534887-14534888	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs560926352	chr18:14534915-14534916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529790196	chr18:14534926-14534927	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs549760130	chr18:14534936-14534937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
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
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
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