Variant report

Variant	esv3326438
Chromosome Location	chr18:43974654-43980152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43912407..43914434-chr18:43977281..43979544,2	MCF-7	breast:
2	chr18:43978606..43980174-chr18:43980566..43982099,2	MCF-7	breast:
3	chr18:43969322..43971831-chr18:43973623..43976426,2	K562	blood:

Variant related genes	Relation type
ENSG00000141622	chromatin interactions

Extended variants
information (count: 254 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559693834	chr18:43974708-43974709	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145198195	chr18:43974770-43974771	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546516687	chr18:43974787-43974788	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564766885	chr18:43974813-43974814	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12956271	chr18:43974818-43974819	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147620220	chr18:43974825-43974826	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78776541	chr18:43974865-43974866	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562903930	chr18:43974887-43974888	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370451728	chr18:43974898-43974899	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529358333	chr18:43974899-43974900	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs16978555	chr18:43974917-43974918	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs531871155	chr18:43974920-43974921	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142040260	chr18:43974975-43974976	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533161132	chr18:43974984-43974985	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143096599	chr18:43975017-43975018	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528515654	chr18:43975028-43975029	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115046258	chr18:43975059-43975060	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114170557	chr18:43975090-43975091	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151140656	chr18:43975091-43975092	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537980876	chr18:43975096-43975097	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555977958	chr18:43975114-43975115	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577614827	chr18:43975122-43975123	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538209305	chr18:43975126-43975127	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112384083	chr18:43975149-43975150	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558496979	chr18:43975189-43975190	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76009246	chr18:43975203-43975204	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540849217	chr18:43975205-43975206	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142487936	chr18:43975245-43975246	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150299861	chr18:43975255-43975256	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138998035	chr18:43975296-43975297	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183148259	chr18:43975321-43975322	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34311565	chr18:43975373-43975374	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186654431	chr18:43975399-43975400	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142270041	chr18:43975409-43975410	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368060028	chr18:43975420-43975421	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527933637	chr18:43975429-43975430	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527610963	chr18:43975446-43975447	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548851652	chr18:43975568-43975569	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145774630	chr18:43975579-43975580	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60099048	chr18:43975587-43975588	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs16978556	chr18:43975598-43975599	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571214972	chr18:43975611-43975612	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546707403	chr18:43975657-43975658	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538653342	chr18:43975740-43975741	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542524276	chr18:43975775-43975776	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138442855	chr18:43975779-43975780	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532233732	chr18:43975814-43975815	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191700564	chr18:43975839-43975840	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551856315	chr18:43975847-43975848	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534530378	chr18:43975850-43975851	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	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:119 , 50 per page) page: 1 2 3

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	chr18:43968200-43975800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:43968200-43977000	Weak transcription	Adipose Nuclei	Adipose
8	chr18:43968800-43981400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:43969200-43985200	Weak transcription	Right Atrium	heart
10	chr18:43969400-43977800	Weak transcription	Fetal Heart	heart
11	chr18:43970000-43977200	Weak transcription	Dnd41	blood
12	chr18:43970000-43977800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr18:43970000-43979200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr18:43971400-43976600	Weak transcription	Esophagus	oesophagus
15	chr18:43971800-43974800	Enhancers	Spleen	Spleen
16	chr18:43971800-43976400	Strong transcription	Fetal Brain Female	brain
17	chr18:43972200-43977800	Weak transcription	Fetal Lung	lung
18	chr18:43972200-43979200	Weak transcription	Fetal Brain Male	brain
19	chr18:43972600-43974800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr18:43973600-43991400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:43973800-43974800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr18:43973800-43975000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr18:43973800-43975000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:43973800-43975800	Weak transcription	Right Ventricle	heart
25	chr18:43974000-43976800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:43974000-43978400	Weak transcription	Fetal Stomach	stomach
27	chr18:43974200-43977200	Weak transcription	GM12878-XiMat	blood
28	chr18:43974200-43990400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr18:43974400-43977200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr18:43974600-43975400	Strong transcription	Fetal Muscle Leg	muscle
31	chr18:43974600-43975800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr18:43974600-43979000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr18:43974600-43980000	Weak transcription	Left Ventricle	heart
34	chr18:43974800-43975200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr18:43974800-43975800	Weak transcription	Spleen	Spleen
36	chr18:43974800-43976600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr18:43975000-43977000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr18:43975000-43977000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr18:43975200-43983400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr18:43975400-43976400	Genic enhancers	Fetal Muscle Leg	muscle
41	chr18:43975600-43978800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr18:43975800-43976000	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr18:43975800-43976200	Enhancers	Psoas Muscle	Psoas
44	chr18:43975800-43976400	Enhancers	Right Ventricle	heart
45	chr18:43975800-43977400	Enhancers	Spleen	Spleen
46	chr18:43975800-43978400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr18:43976000-43976200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr18:43976200-43976600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr18:43976200-43977000	Weak transcription	Psoas Muscle	Psoas
50	chr18:43976400-43976600	Enhancers	Fetal Muscle Leg	muscle

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