Variant report

Variant	esv3333541
Chromosome Location	chr18:7306923-7307920
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	chr18:7305816..7308411-chr18:7309437..7311402,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372862558	chr18:7306923-7306924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72051316	chr18:7306928-7306929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377571774	chr18:7306929-7306930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535541359	chr18:7306951-7306952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117151084	chr18:7306960-7306961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34528774	chr18:7307007-7307008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560256246	chr18:7307013-7307014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532469678	chr18:7307075-7307076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs66496520	chr18:7307101-7307102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12454754	chr18:7307150-7307151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531502450	chr18:7307156-7307157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548214064	chr18:7307188-7307189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568327391	chr18:7307194-7307195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186522117	chr18:7307198-7307199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191339903	chr18:7307223-7307224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570414545	chr18:7307278-7307279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182243445	chr18:7307293-7307294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549111530	chr18:7307295-7307296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569495949	chr18:7307296-7307297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186910630	chr18:7307357-7307358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527752843	chr18:7307380-7307381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191523876	chr18:7307446-7307447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113233286	chr18:7307447-7307448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575070213	chr18:7307474-7307475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141308584	chr18:7307493-7307494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540318842	chr18:7307565-7307566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553757117	chr18:7307580-7307581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150238819	chr18:7307600-7307601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531282867	chr18:7307620-7307621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111855943	chr18:7307745-7307746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183272270	chr18:7307752-7307753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570955927	chr18:7307753-7307754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531438119	chr18:7307762-7307763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375182949	chr18:7307799-7307800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116613795	chr18:7307826-7307827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74966247	chr18:7307856-7307857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138873834	chr18:7307873-7307874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527586833	chr18:7307899-7307900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547673613	chr18:7307900-7307901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570479100	chr18:7307910-7307911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
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
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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7302000-7307000	Weak transcription	Right Atrium	heart
2	chr18:7306600-7307800	Enhancers	Right Ventricle	heart
3	chr18:7306600-7308000	Enhancers	Fetal Muscle Leg	muscle
4	chr18:7306600-7308000	Enhancers	Rectal Smooth Muscle	rectum
5	chr18:7306800-7308000	Enhancers	Colon Smooth Muscle	Colon
6	chr18:7306800-7308000	Enhancers	Stomach Smooth Muscle	stomach
7	chr18:7307000-7307800	Enhancers	Right Atrium	heart
8	chr18:7307000-7308000	Enhancers	Fetal Muscle Trunk	muscle
9	chr18:7307200-7307800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr18:7307600-7308000	Enhancers	Adipose Nuclei	Adipose
11	chr18:7307800-7324600	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links