Variant report

Variant	esv3371529
Chromosome Location	chr18:11767777-11770325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11768539..11770785-chr18:11848964..11851728,2	K562	blood:

Variant related genes	Relation type
ENSG00000255112	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74942716	chr18:11767821-11767822	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533779859	chr18:11767831-11767832	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555213020	chr18:11767832-11767833	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182304072	chr18:11767859-11767860	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552777557	chr18:11767878-11767879	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116949094	chr18:11767891-11767892	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577880157	chr18:11767929-11767930	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73399822	chr18:11767930-11767931	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147289602	chr18:11768003-11768004	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs528521388	chr18:11768007-11768008	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs117159530	chr18:11768021-11768022	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs77058319	chr18:11768099-11768100	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs147423071	chr18:11768105-11768106	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs377727286	chr18:11768106-11768107	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs529391051	chr18:11768125-11768126	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs543836190	chr18:11768140-11768141	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs569122705	chr18:11768142-11768143	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs185372462	chr18:11768152-11768153	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs551706084	chr18:11768162-11768163	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs567145396	chr18:11768166-11768167	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs534187387	chr18:11768210-11768211	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs555348443	chr18:11768253-11768254	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs139567619	chr18:11768279-11768280	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs537962603	chr18:11768287-11768288	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs555825768	chr18:11768321-11768322	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs556279883	chr18:11768332-11768333	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs574440088	chr18:11768335-11768336	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs577937609	chr18:11768352-11768353	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs541583365	chr18:11768460-11768461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545218763	chr18:11768484-11768485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560248948	chr18:11768486-11768487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554146245	chr18:11768504-11768505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145080678	chr18:11768515-11768516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191357950	chr18:11768568-11768569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs183615550	chr18:11768573-11768574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529236729	chr18:11768586-11768587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544333861	chr18:11768600-11768601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141852297	chr18:11768601-11768602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562639655	chr18:11768622-11768623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188410455	chr18:11768665-11768666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564419839	chr18:11768669-11768670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551569719	chr18:11768720-11768721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12457247	chr18:11768762-11768763	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550230570	chr18:11768764-11768765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528012531	chr18:11768815-11768816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139483133	chr18:11768849-11768850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111725111	chr18:11768864-11768865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201256718	chr18:11768893-11768894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368529073	chr18:11768902-11768903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149661472	chr18:11768904-11768905	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
abnormal development	18461090	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11752800-11774000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:11753000-11768000	Weak transcription	HMEC	breast
3	chr18:11753000-11774800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr18:11753000-11775400	Weak transcription	Gastric	stomach
5	chr18:11756600-11769200	Weak transcription	Fetal Brain Female	brain
6	chr18:11758400-11785600	Weak transcription	Brain Anterior Caudate	brain
7	chr18:11763400-11780400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:11765000-11768200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:11765600-11767800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr18:11765800-11768800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr18:11766400-11767800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:11766600-11768000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:11766800-11767800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr18:11766800-11767800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr18:11767200-11767800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:11767200-11767800	ZNF genes & repeats	Aorta	Aorta
17	chr18:11767200-11768400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:11767200-11769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr18:11767400-11768400	Enhancers	A549	lung
20	chr18:11767600-11767800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:11767600-11768000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr18:11767600-11785400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr18:11767600-11789000	Weak transcription	Esophagus	oesophagus
24	chr18:11767800-11768400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
25	chr18:11767800-11769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr18:11767800-11771400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr18:11767800-11783800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr18:11767800-11784000	Weak transcription	Aorta	Aorta
29	chr18:11768000-11768400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:11768000-11768400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:11768000-11768400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr18:11768000-11768400	Enhancers	HMEC	breast
33	chr18:11768200-11768400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:11768200-11772800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:11768400-11769400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr18:11769400-11769600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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