Variant report

Variant	esv14178
Chromosome Location	chr18:43977083-43978888
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	chr18:43978606..43980174-chr18:43980566..43982099,2	MCF-7	breast:
2	chr18:43912407..43914434-chr18:43977281..43979544,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141622	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12608433	chr18:43977083-43977084	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577111807	chr18:43977092-43977093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192415941	chr18:43977099-43977100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185582095	chr18:43977127-43977128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190040488	chr18:43977154-43977155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34139708	chr18:43977164-43977165	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144144603	chr18:43977335-43977336	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564720970	chr18:43977355-43977356	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563180030	chr18:43977383-43977384	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200622427	chr18:43977404-43977405	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113875246	chr18:43977416-43977417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374538655	chr18:43977417-43977418	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550212368	chr18:43977434-43977435	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111850759	chr18:43977452-43977453	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs367744586	chr18:43977453-43977454	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs80226491	chr18:43977454-43977455	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538864047	chr18:43977495-43977496	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573677052	chr18:43977523-43977524	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555972233	chr18:43977524-43977525	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs58798217	chr18:43977539-43977540	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs8099685	chr18:43977549-43977550	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142512314	chr18:43977559-43977560	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544604098	chr18:43977593-43977594	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547556121	chr18:43977595-43977596	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs565913448	chr18:43977606-43977607	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200572329	chr18:43977608-43977609	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527539213	chr18:43977629-43977630	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145895663	chr18:43977630-43977631	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370437270	chr18:43977649-43977650	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555037242	chr18:43977653-43977654	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111164056	chr18:43977659-43977660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569005782	chr18:43977684-43977685	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576403057	chr18:43977765-43977766	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368101901	chr18:43977773-43977774	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368182539	chr18:43977778-43977779	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370647277	chr18:43977789-43977790	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201136557	chr18:43977828-43977829	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201802166	chr18:43977857-43977858	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111174320	chr18:43977864-43977865	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376904474	chr18:43977865-43977866	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577171923	chr18:43977904-43977905	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541313902	chr18:43977912-43977913	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374863861	chr18:43977937-43977938	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111174321	chr18:43977945-43977946	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574567431	chr18:43977957-43977958	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541609705	chr18:43977965-43977966	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372265834	chr18:43977974-43977975	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563349508	chr18:43977998-43977999	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530434936	chr18:43978025-43978026	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552117008	chr18:43978043-43978044	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43956400-43978400	Weak transcription	Liver	Liver
2	chr18:43964400-43980800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr18:43967800-43981000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:43968000-43980000	Weak transcription	Brain Germinal Matrix	brain
5	chr18:43968800-43981400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:43969200-43985200	Weak transcription	Right Atrium	heart
7	chr18:43969400-43977800	Weak transcription	Fetal Heart	heart
8	chr18:43970000-43977200	Weak transcription	Dnd41	blood
9	chr18:43970000-43977800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr18:43970000-43979200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr18:43972200-43977800	Weak transcription	Fetal Lung	lung
12	chr18:43972200-43979200	Weak transcription	Fetal Brain Male	brain
13	chr18:43973600-43991400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:43974000-43978400	Weak transcription	Fetal Stomach	stomach
15	chr18:43974200-43977200	Weak transcription	GM12878-XiMat	blood
16	chr18:43974200-43990400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:43974400-43977200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr18:43974600-43979000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr18:43974600-43980000	Weak transcription	Left Ventricle	heart
20	chr18:43975200-43983400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr18:43975600-43978800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr18:43975800-43977400	Enhancers	Spleen	Spleen
23	chr18:43975800-43978400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr18:43976400-43980000	Weak transcription	Fetal Brain Female	brain
25	chr18:43976600-43978000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr18:43976600-43978600	Enhancers	Esophagus	oesophagus
27	chr18:43976600-43981000	Enhancers	Fetal Muscle Trunk	muscle
28	chr18:43976800-43977200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr18:43977000-43977200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr18:43977000-43977200	Enhancers	Psoas Muscle	Psoas
31	chr18:43977000-43977600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:43977000-43978000	Weak transcription	Right Ventricle	heart
33	chr18:43977000-43978400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr18:43977000-43979000	Enhancers	Adipose Nuclei	Adipose
35	chr18:43977000-43983200	Enhancers	Fetal Muscle Leg	muscle
36	chr18:43977200-43977400	Enhancers	Dnd41	blood
37	chr18:43977200-43978200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr18:43977200-43978400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
39	chr18:43977200-43978400	Enhancers	Primary hematopoietic stem cells	blood
40	chr18:43977200-43978400	Enhancers	K562	blood
41	chr18:43977200-43978800	Enhancers	GM12878-XiMat	blood
42	chr18:43977200-43983000	Weak transcription	Psoas Muscle	Psoas
43	chr18:43977400-43977600	Flanking Active TSS	Spleen	Spleen
44	chr18:43977400-43978200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:43977600-43978000	Enhancers	Gastric	stomach
46	chr18:43977600-43978400	Genic enhancers	Spleen	Spleen
47	chr18:43977800-43978000	Active TSS	Fetal Lung	lung
48	chr18:43977800-43978400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr18:43977800-43978400	Enhancers	Pancreas	Pancrea
50	chr18:43977800-43979200	Enhancers	Fetal Heart	heart

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