Variant report

Variant	esv1828197
Chromosome Location	chr3:178564063-178566442
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178563215..178565966-chr3:178568860..178571886,3	K562	blood:
2	chr3:178561734..178564291-chr3:178564558..178566071,2	K562	blood:
3	chr3:178561734..178564291-chr3:178564558..178566071,2	K562	blood:
4	chr3:178563436..178567007-chr3:178568860..178573987,6	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4622884	chr3:178564063-178564064	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560291271	chr3:178564115-178564116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113064375	chr3:178564133-178564134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4276162	chr3:178564134-178564135	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4539918	chr3:178564175-178564176	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531812175	chr3:178564332-178564333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149548436	chr3:178564354-178564355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144035285	chr3:178564381-178564382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10670242	chr3:178564382-178564383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35083307	chr3:178564383-178564384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10653693	chr3:178564385-178564386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373231827	chr3:178564386-178564387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377357121	chr3:178564388-178564389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6443584	chr3:178564501-178564502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533650571	chr3:178564522-178564523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562512239	chr3:178564545-178564546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570398944	chr3:178564606-178564607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73057817	chr3:178564607-178564608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192327479	chr3:178564609-178564610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576308191	chr3:178564684-178564685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535714452	chr3:178564695-178564696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555612295	chr3:178564710-178564711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572226991	chr3:178564754-178564755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61061645	chr3:178564771-178564772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6800154	chr3:178564799-178564800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376547111	chr3:178564856-178564857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560628614	chr3:178564915-178564916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577200579	chr3:178564981-178564982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183216797	chr3:178564991-178564992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375520060	chr3:178565042-178565043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6787504	chr3:178565127-178565128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187870669	chr3:178565129-178565130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144027967	chr3:178565152-178565153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561947855	chr3:178565167-178565168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6787593	chr3:178565198-178565199	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547215603	chr3:178565204-178565205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138863559	chr3:178565241-178565242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539134432	chr3:178565286-178565287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192307757	chr3:178565318-178565319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182972284	chr3:178565326-178565327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200835666	chr3:178565329-178565330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535755134	chr3:178565345-178565346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188366114	chr3:178565450-178565451	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs192617975	chr3:178565489-178565490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs6443585	chr3:178565514-178565515	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554234793	chr3:178565523-178565524	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs543901057	chr3:178565573-178565574	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs398106794	chr3:178565574-178565575	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs10580432	chr3:178565584-178565585	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs554000955	chr3:178565596-178565597	Weak transcription Enhancers Flanking Active TSS	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178558800-178566800	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:178559200-178567600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:178559800-178566800	Weak transcription	Left Ventricle	heart
4	chr3:178562400-178567600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:178562600-178565400	Enhancers	HSMMtube	muscle
6	chr3:178562800-178564800	Enhancers	NHDF-Ad	bronchial
7	chr3:178562800-178565000	Enhancers	HSMM	muscle
8	chr3:178562800-178569200	Enhancers	Colon Smooth Muscle	Colon
9	chr3:178563000-178566000	Enhancers	NH-A	brain
10	chr3:178563000-178567800	Enhancers	Rectal Smooth Muscle	rectum
11	chr3:178563200-178565000	Enhancers	Stomach Smooth Muscle	stomach
12	chr3:178563400-178566600	Enhancers	Osteobl	bone
13	chr3:178563400-178567400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:178563400-178567600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:178563600-178566000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:178563600-178567800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:178563800-178565600	Weak transcription	Aorta	Aorta
18	chr3:178564000-178564400	Weak transcription	Fetal Heart	heart
19	chr3:178564000-178565200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:178564200-178564400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr3:178564400-178565600	Enhancers	Fetal Heart	heart
22	chr3:178564400-178566600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:178564800-178565600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:178564800-178567600	Weak transcription	NHDF-Ad	bronchial
25	chr3:178565000-178565800	Weak transcription	HSMM	muscle
26	chr3:178565400-178565600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:178565400-178565600	Enhancers	Fetal Lung	lung
28	chr3:178565400-178565600	Flanking Active TSS	HSMMtube	muscle
29	chr3:178565600-178565800	Flanking Active TSS	Fetal Heart	heart
30	chr3:178565600-178565800	Enhancers	HSMMtube	muscle
31	chr3:178565600-178566600	Weak transcription	Fetal Lung	lung
32	chr3:178565600-178567000	Enhancers	Aorta	Aorta
33	chr3:178565600-178567200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:178565800-178566000	Enhancers	Fetal Heart	heart
35	chr3:178565800-178566000	Enhancers	Right Atrium	heart
36	chr3:178565800-178566000	Flanking Active TSS	HSMMtube	muscle
37	chr3:178565800-178568000	Enhancers	HSMM	muscle
38	chr3:178566000-178566200	Flanking Active TSS	Fetal Heart	heart
39	chr3:178566000-178566800	Weak transcription	Right Atrium	heart
40	chr3:178566000-178567000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:178566000-178567600	Enhancers	Brain Germinal Matrix	brain
42	chr3:178566000-178567600	Enhancers	HSMMtube	muscle
43	chr3:178566000-178567800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr3:178566200-178566600	Active TSS	Fetal Brain Male	brain
45	chr3:178566200-178567400	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links