Variant report

Variant	esv3448550
Chromosome Location	chr15:54744960-54748958
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	chr15:54627743..54629757-chr15:54746231..54748915,2	K562	blood:

Extended variants
information (count: 204 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566966221	chr15:54744963-54744964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs79332266	chr15:54744989-54744990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549064813	chr15:54745004-54745005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs549491543	chr15:54745019-54745020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs142492526	chr15:54745026-54745027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538873249	chr15:54745040-54745041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs8024645	chr15:54745049-54745050	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs556472298	chr15:54745084-54745085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572653442	chr15:54745098-54745099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs151334865	chr15:54745107-54745108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371129688	chr15:54745143-54745144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs554991655	chr15:54745158-54745159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs145672574	chr15:54745185-54745186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs574916155	chr15:54745200-54745201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs543920049	chr15:54745203-54745204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs563789107	chr15:54745225-54745226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs140592545	chr15:54745247-54745248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs544881808	chr15:54745280-54745281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs150468331	chr15:54745283-54745284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2414313	chr15:54745309-54745310	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs8026344	chr15:54745343-54745344	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs146604137	chr15:54745359-54745360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs372536049	chr15:54745382-54745383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs141327463	chr15:54745397-54745398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs549428230	chr15:54745409-54745410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs569432250	chr15:54745426-54745427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs554042742	chr15:54745433-54745434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs145055584	chr15:54745435-54745436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs566302031	chr15:54745439-54745440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs138850409	chr15:54745467-54745468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376815919	chr15:54745469-54745470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs555337045	chr15:54745477-54745478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs574852957	chr15:54745498-54745499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs572246071	chr15:54745545-54745546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs368138992	chr15:54745549-54745550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs149353971	chr15:54745566-54745567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs186518558	chr15:54745586-54745587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs191016728	chr15:54745621-54745622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12148262	chr15:54745671-54745672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs558471386	chr15:54745688-54745689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548001985	chr15:54745710-54745711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540909742	chr15:54745720-54745721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566287032	chr15:54745727-54745728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143645377	chr15:54745748-54745749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529611196	chr15:54745801-54745802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543017464	chr15:54745865-54745866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182310222	chr15:54745916-54745917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187728692	chr15:54745924-54745925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552295371	chr15:54745943-54745944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148073622	chr15:54745971-54745972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54744400-54745000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:54744800-54745600	ZNF genes & repeats	Aorta	Aorta
3	chr15:54745600-54752200	Weak transcription	Aorta	Aorta

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