Variant report

Variant	esv3462919
Chromosome Location	chr3:178567516-178568448
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	chr3:178568437..178571453-chr3:178575010..178578055,4	K562	blood:

Variant related genes	Relation type
ENSG00000237978	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544656003	chr3:178567523-178567524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190966861	chr3:178567542-178567543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530724380	chr3:178567543-178567544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182252276	chr3:178567548-178567549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34801218	chr3:178567556-178567557	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568435851	chr3:178567557-178567558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186535030	chr3:178567580-178567581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4493410	chr3:178567609-178567610	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566022312	chr3:178567630-178567631	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs116165654	chr3:178567651-178567652	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs372677750	chr3:178567653-178567654	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551496925	chr3:178567668-178567669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs571573855	chr3:178567727-178567728	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs555580781	chr3:178567761-178567762	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs541260124	chr3:178567770-178567771	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs557681509	chr3:178567772-178567773	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs574323669	chr3:178567779-178567780	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs536824801	chr3:178567814-178567815	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs375177409	chr3:178567834-178567835	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs367954997	chr3:178567837-178567838	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs9872584	chr3:178567864-178567865	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564730467	chr3:178567869-178567870	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs531206150	chr3:178567899-178567900	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs140612360	chr3:178567904-178567905	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs574892684	chr3:178567927-178567928	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs544141912	chr3:178567938-178567939	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs540021699	chr3:178567943-178567944	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs556522673	chr3:178567953-178567954	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs374718775	chr3:178567971-178567972	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs576072319	chr3:178567989-178567990	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs143653560	chr3:178567997-178567998	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541536804	chr3:178568006-178568007	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs560263243	chr3:178568031-178568032	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs9835061	chr3:178568052-178568053	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs190942227	chr3:178568074-178568075	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs28694572	chr3:178568085-178568086	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs372185090	chr3:178568109-178568110	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs578060360	chr3:178568120-178568121	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs9290671	chr3:178568129-178568130	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs183105007	chr3:178568136-178568137	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs536917843	chr3:178568140-178568141	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs553299764	chr3:178568159-178568160	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs115836952	chr3:178568174-178568175	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs117809998	chr3:178568177-178568178	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs9817666	chr3:178568193-178568194	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201641303	chr3:178568198-178568199	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs188246821	chr3:178568228-178568229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551022697	chr3:178568252-178568253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373581484	chr3:178568294-178568295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554118648	chr3:178568323-178568324	Weak transcription Enhancers	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178559200-178567600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:178562400-178567600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:178562800-178569200	Enhancers	Colon Smooth Muscle	Colon
4	chr3:178563000-178567800	Enhancers	Rectal Smooth Muscle	rectum
5	chr3:178563400-178567600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:178563600-178567800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:178564800-178567600	Weak transcription	NHDF-Ad	bronchial
8	chr3:178565800-178568000	Enhancers	HSMM	muscle
9	chr3:178566000-178567600	Enhancers	Brain Germinal Matrix	brain
10	chr3:178566000-178567600	Enhancers	HSMMtube	muscle
11	chr3:178566000-178567800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:178566600-178568000	Enhancers	Fetal Stomach	stomach
13	chr3:178566600-178570200	Enhancers	Fetal Lung	lung
14	chr3:178566800-178568200	Enhancers	Fetal Muscle Leg	muscle
15	chr3:178567000-178567600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:178567000-178567600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:178567000-178567800	Weak transcription	Right Atrium	heart
18	chr3:178567200-178567800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:178567200-178575000	Weak transcription	Right Ventricle	heart
20	chr3:178567400-178568000	Enhancers	Left Ventricle	heart
21	chr3:178567400-178568200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:178567400-178568600	Weak transcription	Fetal Heart	heart
23	chr3:178567400-178568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:178567600-178567800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:178567600-178567800	Enhancers	NHDF-Ad	bronchial
26	chr3:178567600-178568000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr3:178567600-178568000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr3:178567600-178568200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:178567600-178568200	Flanking Active TSS	HSMMtube	muscle
30	chr3:178567600-178569800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:178567800-178568000	Enhancers	Right Atrium	heart
32	chr3:178567800-178568200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:178567800-178568400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:178568000-178578200	Weak transcription	HSMM	muscle
35	chr3:178568200-178568800	Weak transcription	Fetal Muscle Leg	muscle
36	chr3:178568200-178569200	Enhancers	HSMMtube	muscle
37	chr3:178568200-178569800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:178568200-178577400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:178568400-178568600	Enhancers	Osteobl	bone
40	chr3:178568400-178569000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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