Variant report

Variant	esv3393931
Chromosome Location	chr18:12047138-12047700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536298794	chr18:12047138-12047139	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs371712713	chr18:12047157-12047158	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs193234437	chr18:12047173-12047174	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs2851906	chr18:12047197-12047198	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs571404410	chr18:12047213-12047214	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538789004	chr18:12047228-12047229	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs553736680	chr18:12047275-12047276	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs572378125	chr18:12047286-12047287	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs184046432	chr18:12047305-12047306	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs116212214	chr18:12047309-12047310	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs142320809	chr18:12047337-12047338	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs543608727	chr18:12047348-12047349	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs199863227	chr18:12047351-12047352	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs566814749	chr18:12047358-12047359	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs369647892	chr18:12047467-12047468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112912576	chr18:12047492-12047493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541159687	chr18:12047495-12047496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72479175	chr18:12047509-12047510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs112020764	chr18:12047513-12047514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150190001	chr18:12047528-12047529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368605136	chr18:12047534-12047535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191287692	chr18:12047567-12047568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4550521	chr18:12047615-12047616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183826521	chr18:12047626-12047627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138977494	chr18:12047662-12047663	Weak transcription Enhancers	n/a	n/a	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12039400-12047400	Weak transcription	Gastric	stomach
2	chr18:12039400-12048400	Weak transcription	Right Ventricle	heart
3	chr18:12042000-12048600	Weak transcription	HSMMtube	muscle
4	chr18:12042800-12048200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:12045000-12048400	Weak transcription	NH-A	brain
6	chr18:12045600-12049000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:12045800-12048400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:12045800-12048400	Weak transcription	Osteobl	bone
9	chr18:12046200-12048600	Weak transcription	GM12878-XiMat	blood
10	chr18:12046600-12047400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:12046600-12048000	Weak transcription	HMEC	breast
12	chr18:12046600-12048400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr18:12047000-12048200	Weak transcription	Lung	lung
14	chr18:12047000-12048600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr18:12047000-12049200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:12047200-12050200	Enhancers	Primary B cells from peripheral blood	blood
17	chr18:12047400-12048800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:12047600-12047800	Enhancers	Spleen	Spleen
19	chr18:12047600-12048200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:12047600-12050000	Enhancers	Monocytes-CD14+_RO01746	blood

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