Variant report

Variant	esv3464235
Chromosome Location	chr3:23233403-23234243
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	chr3:23233775..23235858-chr3:23243837..23245911,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233153	chromatin interactions
ENSG00000182247	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190288984	chr3:23233420-23233421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535576490	chr3:23233461-23233462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192847070	chr3:23233476-23233477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575218086	chr3:23233491-23233492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545799897	chr3:23233494-23233495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184798719	chr3:23233506-23233507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573095490	chr3:23233511-23233512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111942227	chr3:23233523-23233524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148588967	chr3:23233561-23233562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371911356	chr3:23233566-23233567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56233536	chr3:23233590-23233591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189259480	chr3:23233615-23233616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60782093	chr3:23233633-23233634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550333668	chr3:23233693-23233694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563820847	chr3:23233744-23233745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180995662	chr3:23233750-23233751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552066888	chr3:23233751-23233752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530872089	chr3:23233771-23233772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552547286	chr3:23233772-23233773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575721233	chr3:23233788-23233789	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs56255019	chr3:23233805-23233806	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs115566567	chr3:23233819-23233820	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs151149501	chr3:23233820-23233821	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139002030	chr3:23233821-23233822	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs538065987	chr3:23233891-23233892	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs35434333	chr3:23233907-23233908	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568697239	chr3:23233968-23233969	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs566013421	chr3:23233978-23233979	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs536076021	chr3:23233979-23233980	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs369772389	chr3:23234018-23234019	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs575306853	chr3:23234035-23234036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs143979672	chr3:23234096-23234097	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs185095933	chr3:23234113-23234114	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs76383028	chr3:23234160-23234161	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs554405045	chr3:23234161-23234162	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs77138365	chr3:23234162-23234163	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs111368486	chr3:23234239-23234240	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23231000-23235200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr3:23231200-23237400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:23234200-23234800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:23234200-23235600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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