Variant report

Variant	esv3419380
Chromosome Location	chr18:43976554-43979652
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	chr18:43912407..43914434-chr18:43977281..43979544,2	MCF-7	breast:
2	chr18:43978606..43980174-chr18:43980566..43982099,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141622	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148745292	chr18:43976639-43976640	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553847212	chr18:43976703-43976704	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572111933	chr18:43976708-43976709	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542573414	chr18:43976719-43976720	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561251738	chr18:43976724-43976725	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531478586	chr18:43976728-43976729	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543679411	chr18:43976731-43976732	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3889748	chr18:43976749-43976750	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532335610	chr18:43976750-43976751	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74595541	chr18:43976761-43976762	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76389655	chr18:43976774-43976775	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529719663	chr18:43976789-43976790	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141391872	chr18:43976804-43976805	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546293748	chr18:43976826-43976827	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538192699	chr18:43976835-43976836	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147460930	chr18:43976846-43976847	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11661527	chr18:43976847-43976848	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139734280	chr18:43976859-43976860	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12607970	chr18:43976885-43976886	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572173369	chr18:43976906-43976907	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536671504	chr18:43976932-43976933	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145311225	chr18:43976933-43976934	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377490239	chr18:43976982-43976983	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576369437	chr18:43976983-43976984	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562406701	chr18:43977034-43977035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76547094	chr18:43977038-43977039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12608433	chr18:43977083-43977084	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577111807	chr18:43977092-43977093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192415941	chr18:43977099-43977100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185582095	chr18:43977127-43977128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190040488	chr18:43977154-43977155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34139708	chr18:43977164-43977165	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs144144603	chr18:43977335-43977336	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564720970	chr18:43977355-43977356	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs563180030	chr18:43977383-43977384	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200622427	chr18:43977404-43977405	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113875246	chr18:43977416-43977417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374538655	chr18:43977417-43977418	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550212368	chr18:43977434-43977435	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111850759	chr18:43977452-43977453	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs367744586	chr18:43977453-43977454	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs80226491	chr18:43977454-43977455	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538864047	chr18:43977495-43977496	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573677052	chr18:43977523-43977524	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555972233	chr18:43977524-43977525	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs58798217	chr18:43977539-43977540	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs8099685	chr18:43977549-43977550	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142512314	chr18:43977559-43977560	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544604098	chr18:43977593-43977594	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547556121	chr18:43977595-43977596	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	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
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	22341455	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43939400-43976600	Weak transcription	Hela-S3	cervix
2	chr18:43956400-43978400	Weak transcription	Liver	Liver
3	chr18:43964400-43980800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr18:43967800-43981000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:43968000-43980000	Weak transcription	Brain Germinal Matrix	brain
6	chr18:43968200-43977000	Weak transcription	Adipose Nuclei	Adipose
7	chr18:43968800-43981400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:43969200-43985200	Weak transcription	Right Atrium	heart
9	chr18:43969400-43977800	Weak transcription	Fetal Heart	heart
10	chr18:43970000-43977200	Weak transcription	Dnd41	blood
11	chr18:43970000-43977800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:43970000-43979200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:43971400-43976600	Weak transcription	Esophagus	oesophagus
14	chr18:43972200-43977800	Weak transcription	Fetal Lung	lung
15	chr18:43972200-43979200	Weak transcription	Fetal Brain Male	brain
16	chr18:43973600-43991400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:43974000-43976800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr18:43974000-43978400	Weak transcription	Fetal Stomach	stomach
19	chr18:43974200-43977200	Weak transcription	GM12878-XiMat	blood
20	chr18:43974200-43990400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:43974400-43977200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr18:43974600-43979000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr18:43974600-43980000	Weak transcription	Left Ventricle	heart
24	chr18:43974800-43976600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr18:43975000-43977000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr18:43975000-43977000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr18:43975200-43983400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr18:43975600-43978800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr18:43975800-43977400	Enhancers	Spleen	Spleen
30	chr18:43975800-43978400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr18:43976200-43976600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr18:43976200-43977000	Weak transcription	Psoas Muscle	Psoas
33	chr18:43976400-43976600	Enhancers	Fetal Muscle Leg	muscle
34	chr18:43976400-43976800	Weak transcription	Right Ventricle	heart
35	chr18:43976400-43980000	Weak transcription	Fetal Brain Female	brain
36	chr18:43976600-43977000	Genic enhancers	Fetal Muscle Leg	muscle
37	chr18:43976600-43978000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr18:43976600-43978600	Enhancers	Esophagus	oesophagus
39	chr18:43976600-43981000	Enhancers	Fetal Muscle Trunk	muscle
40	chr18:43976800-43977000	Enhancers	Right Ventricle	heart
41	chr18:43976800-43977200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr18:43977000-43977200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr18:43977000-43977200	Enhancers	Psoas Muscle	Psoas
44	chr18:43977000-43977600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:43977000-43978000	Weak transcription	Right Ventricle	heart
46	chr18:43977000-43978400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr18:43977000-43979000	Enhancers	Adipose Nuclei	Adipose
48	chr18:43977000-43983200	Enhancers	Fetal Muscle Leg	muscle
49	chr18:43977200-43977400	Enhancers	Dnd41	blood
50	chr18:43977200-43978200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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