Variant report

Variant	esv1841956
Chromosome Location	chr3:178545276-178550530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178543542..178551305-chr3:178552157..178562303,11	MCF-7	breast:
2	chr3:178545028..178546976-chr3:178549794..178552747,2	K562	blood:
3	chr3:178545028..178546976-chr3:178549794..178552747,2	K562	blood:
4	chr3:178521575..178524548-chr3:178545773..178548206,3	K562	blood:

Extended variants
information (count: 185 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9844737	chr3:178545276-178545277	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537161836	chr3:178545289-178545290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556993121	chr3:178545342-178545343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189679240	chr3:178545348-178545349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555350385	chr3:178545360-178545361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538513456	chr3:178545396-178545397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559832710	chr3:178545420-178545421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143956339	chr3:178545472-178545473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373285914	chr3:178545515-178545516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181151077	chr3:178545529-178545530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535803761	chr3:178545587-178545588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147301344	chr3:178545597-178545598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10936978	chr3:178545608-178545609	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531087589	chr3:178545621-178545622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10936979	chr3:178545666-178545667	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185992918	chr3:178545669-178545670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541588679	chr3:178545699-178545700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533514245	chr3:178545724-178545725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558287063	chr3:178545727-178545728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34512022	chr3:178545753-178545754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148312462	chr3:178545766-178545767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80111740	chr3:178545767-178545768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9883312	chr3:178545774-178545775	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538944695	chr3:178545775-178545776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189668092	chr3:178545784-178545785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199717973	chr3:178545791-178545792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568719080	chr3:178545799-178545800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537600626	chr3:178545819-178545820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557077017	chr3:178545902-178545903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74917742	chr3:178545903-178545904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536282066	chr3:178545949-178545950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35616186	chr3:178545952-178545953	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs376796126	chr3:178545967-178545968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563719552	chr3:178545976-178545977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145640012	chr3:178545980-178545981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573122943	chr3:178546004-178546005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368918405	chr3:178546016-178546017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9831934	chr3:178546026-178546027	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs575178662	chr3:178546090-178546091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373338689	chr3:178546107-178546108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201338193	chr3:178546108-178546109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575957428	chr3:178546110-178546111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200274160	chr3:178546174-178546175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377343425	chr3:178546175-178546176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560854075	chr3:178546209-178546210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529774249	chr3:178546233-178546234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539921579	chr3:178546277-178546278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560108147	chr3:178546306-178546307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150822371	chr3:178546341-178546342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139271775	chr3:178546347-178546348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178541200-178558400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:178541600-178547000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:178541800-178547800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:178541800-178550600	Weak transcription	Fetal Kidney	kidney
5	chr3:178542000-178547200	Weak transcription	Fetal Stomach	stomach
6	chr3:178542000-178563600	Weak transcription	Aorta	Aorta
7	chr3:178543600-178551200	Weak transcription	Ovary	ovary
8	chr3:178544000-178545600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:178544600-178546400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:178544800-178546200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:178544800-178546200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:178545000-178545400	Enhancers	GM12878-XiMat	blood
13	chr3:178545000-178545600	Enhancers	Brain Germinal Matrix	brain
14	chr3:178545000-178546400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:178545000-178546800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:178545200-178546600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:178545200-178557800	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:178545400-178545600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:178545400-178546200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:178545400-178546200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:178545400-178546200	Weak transcription	GM12878-XiMat	blood
22	chr3:178545400-178546400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:178546200-178546400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:178546200-178546400	Enhancers	GM12878-XiMat	blood
25	chr3:178546400-178547400	Weak transcription	GM12878-XiMat	blood
26	chr3:178546400-178563000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:178547400-178547600	Enhancers	GM12878-XiMat	blood
28	chr3:178547800-178550400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
29	chr3:178550400-178562800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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