Variant report

Variant	esv3388067
Chromosome Location	chr3:18073748-18077546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:18073473..18075308-chr3:18077351..18079135,2	MCF-7	breast:
2	chr3:18032310..18035084-chr3:18071634..18073958,2	K562	blood:
3	chr3:18075093..18077944-chr3:18081662..18084069,2	K562	blood:
4	chr3:18073473..18075308-chr3:18077351..18079135,2	MCF-7	breast:

Extended variants
information (count: 118 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13066799	chr3:18073764-18073765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13089541	chr3:18073765-18073766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13066811	chr3:18073777-18073778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74964426	chr3:18073787-18073788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13066933	chr3:18073798-18073799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13089703	chr3:18073799-18073800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575449604	chr3:18073851-18073852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544331383	chr3:18073881-18073882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190332409	chr3:18073906-18073907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs207463013	chr3:18073942-18073943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574196543	chr3:18073969-18073970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370179767	chr3:18074020-18074021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542818329	chr3:18074040-18074041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182507581	chr3:18074121-18074122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562483017	chr3:18074125-18074126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144884247	chr3:18074151-18074152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187912892	chr3:18074273-18074274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545040852	chr3:18074338-18074339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564946783	chr3:18074345-18074346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542120789	chr3:18074376-18074377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551077191	chr3:18074378-18074379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567621780	chr3:18074389-18074390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529936483	chr3:18074437-18074438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546458721	chr3:18074438-18074439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190755998	chr3:18074495-18074496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184243688	chr3:18074519-18074520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552457369	chr3:18074571-18074572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568870446	chr3:18074575-18074576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537811572	chr3:18074629-18074630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554663098	chr3:18074663-18074664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376505084	chr3:18074709-18074710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574433264	chr3:18074751-18074752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536878349	chr3:18074797-18074798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116548764	chr3:18074800-18074801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573060537	chr3:18074815-18074816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143617389	chr3:18074822-18074823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565211328	chr3:18074824-18074825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146778380	chr3:18074860-18074861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188695812	chr3:18074884-18074885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140419195	chr3:18074939-18074940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150364835	chr3:18074984-18074985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145004325	chr3:18075006-18075007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192352091	chr3:18075057-18075058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532296394	chr3:18075129-18075130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552520505	chr3:18075203-18075204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569137480	chr3:18075220-18075221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537880535	chr3:18075304-18075305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115958462	chr3:18075314-18075315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568194135	chr3:18075327-18075328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114421364	chr3:18075375-18075376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:18046200-18076600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:18055000-18088000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:18074400-18075600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:18075000-18075200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:18075600-18077200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:18075800-18078200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:18076400-18078200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:18076600-18077000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:18076800-18078000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:18077200-18077800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:18077200-18078000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:18077200-18078200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:18077200-18078200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:18077200-18078200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:18077400-18078000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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