Variant report

Variant	esv3400737
Chromosome Location	chr3:178675458-178677356
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	chr3:178674268..178676361-chr3:178678213..178681169,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530611166	chr3:178675466-178675467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552568224	chr3:178675503-178675504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188589394	chr3:178675556-178675557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181340008	chr3:178675620-178675621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548984896	chr3:178675630-178675631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148962933	chr3:178675700-178675701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115219856	chr3:178675716-178675717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569442904	chr3:178675728-178675729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143648449	chr3:178675745-178675746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61796628	chr3:178675762-178675763	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571849723	chr3:178675794-178675795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548760169	chr3:178675814-178675815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115226487	chr3:178675821-178675822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557540845	chr3:178675864-178675865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572123766	chr3:178675905-178675906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185463288	chr3:178675920-178675921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536317672	chr3:178675945-178675946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552965491	chr3:178675961-178675962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568489265	chr3:178675988-178675989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148078555	chr3:178676009-178676010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563140948	chr3:178676015-178676016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9810434	chr3:178676077-178676078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558587336	chr3:178676086-178676087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535154928	chr3:178676176-178676177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56357813	chr3:178676207-178676208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368405984	chr3:178676208-178676209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61796629	chr3:178676219-178676220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57145294	chr3:178676220-178676221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56118759	chr3:178676222-178676223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145666285	chr3:178676233-178676234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59713581	chr3:178676234-178676235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542938654	chr3:178676245-178676246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372771319	chr3:178676260-178676261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575149398	chr3:178676334-178676335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201398503	chr3:178676382-178676383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553396976	chr3:178676394-178676395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369627302	chr3:178676396-178676397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79448239	chr3:178676397-178676398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9810920	chr3:178676398-178676399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577279667	chr3:178676404-178676405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61387222	chr3:178676411-178676412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189226684	chr3:178676412-178676413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542734724	chr3:178676429-178676430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559746496	chr3:178676459-178676460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538935451	chr3:178676461-178676462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551709938	chr3:178676468-178676469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558533205	chr3:178676470-178676471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375059715	chr3:178676515-178676516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367635511	chr3:178676561-178676562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142789683	chr3:178676565-178676566	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178666000-178677800	Weak transcription	HSMMtube	muscle
2	chr3:178668800-178683000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:178669400-178685000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:178671400-178676000	Strong transcription	HSMM	muscle
5	chr3:178671400-178684000	Weak transcription	Primary T cells from cord blood	blood
6	chr3:178673800-178678000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:178676000-178677800	Weak transcription	HSMM	muscle
8	chr3:178676800-178683600	Weak transcription	GM12878-XiMat	blood
9	chr3:178677200-178678600	Enhancers	HUES64 Cell Line	embryonic stem cell

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