Variant report

Variant	esv2430362
Chromosome Location	chr3:24848637-24850142
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	chr3:24847659..24849436-chr3:24851725..24853235,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539487959	chr3:24848672-24848673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570693151	chr3:24848689-24848690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182392277	chr3:24848748-24848749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534998517	chr3:24848750-24848751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539701420	chr3:24848754-24848755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575003068	chr3:24848777-24848778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542040445	chr3:24848804-24848805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557493380	chr3:24848839-24848840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575669958	chr3:24848843-24848844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186360708	chr3:24848877-24848878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78864224	chr3:24848903-24848904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368058616	chr3:24848925-24848926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564480733	chr3:24848935-24848936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573265166	chr3:24848940-24848941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540580726	chr3:24848960-24848961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141870384	chr3:24848986-24848987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191012325	chr3:24849063-24849064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56750659	chr3:24849065-24849066	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563492666	chr3:24849277-24849278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562677703	chr3:24849280-24849281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532869237	chr3:24849284-24849285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576902284	chr3:24849285-24849286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376566363	chr3:24849294-24849295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5847316	chr3:24849337-24849338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75853164	chr3:24849343-24849344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182726525	chr3:24849391-24849392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188983810	chr3:24849404-24849405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75819791	chr3:24849419-24849420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35843644	chr3:24849465-24849466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545865447	chr3:24849489-24849490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs61257264	chr3:24849529-24849530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116677534	chr3:24849543-24849544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547814809	chr3:24849547-24849548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536117986	chr3:24849559-24849560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs118042638	chr3:24849561-24849562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539989459	chr3:24849577-24849578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12487138	chr3:24849584-24849585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs146264993	chr3:24849600-24849601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558280679	chr3:24849768-24849769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374933365	chr3:24849769-24849770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139549988	chr3:24849784-24849785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144196414	chr3:24849796-24849797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372115922	chr3:24849833-24849834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562080639	chr3:24849841-24849842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6550915	chr3:24849894-24849895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193126331	chr3:24849905-24849906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562553263	chr3:24849933-24849934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150652621	chr3:24849943-24849944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562325064	chr3:24849967-24849968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553005904	chr3:24849982-24849983	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24847400-24849400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:24849000-24850400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:24849200-24850200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr3:24849200-24850600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:24849200-24850600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:24849400-24849600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:24849400-24850200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:24849400-24850600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:24850000-24850800	Enhancers	H1 Cell Line	embryonic stem cell

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