Variant report

Variant	nsv512224
Chromosome Location	chr11:48352375-48355057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 210 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:210 , 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	rs77077937	chr11:48352383-48352384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77932727	chr11:48352384-48352385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552023259	chr11:48352392-48352393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189672258	chr11:48352393-48352394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376910848	chr11:48352404-48352405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74236464	chr11:48352412-48352413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139435079	chr11:48352424-48352425	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531436319	chr11:48352432-48352433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182376726	chr11:48352433-48352434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116175380	chr11:48352438-48352439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74538669	chr11:48352461-48352462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533874760	chr11:48352468-48352469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78077045	chr11:48352470-48352471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79076857	chr11:48352475-48352476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553496259	chr11:48352503-48352504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570383045	chr11:48352509-48352510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551052755	chr11:48352524-48352525	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59243041	chr11:48352538-48352539	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77827586	chr11:48352545-48352546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79577954	chr11:48352547-48352548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74322938	chr11:48352552-48352553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148779169	chr11:48352565-48352566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76548011	chr11:48352570-48352571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10160447	chr11:48352590-48352591	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527872788	chr11:48352592-48352593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73465958	chr11:48352603-48352604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115838377	chr11:48352636-48352637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112995500	chr11:48352643-48352644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75362146	chr11:48352678-48352679	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146567246	chr11:48352680-48352681	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542470759	chr11:48352685-48352686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs66569708	chr11:48352702-48352703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78269899	chr11:48352741-48352742	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371545117	chr11:48352756-48352757	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74457161	chr11:48352757-48352758	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78313374	chr11:48352763-48352764	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79998499	chr11:48352764-48352765	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77387157	chr11:48352768-48352769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs984214	chr11:48352830-48352831	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533323683	chr11:48352834-48352835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374453108	chr11:48352839-48352840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72911498	chr11:48352855-48352856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75919173	chr11:48352864-48352865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543395531	chr11:48352897-48352898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200699715	chr11:48352925-48352926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187053826	chr11:48352930-48352931	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28366737	chr11:48352931-48352932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531497485	chr11:48352935-48352936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28439217	chr11:48352960-48352961	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77108558	chr11:48352974-48352975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48350000-48355600	Weak transcription	Stomach Mucosa	stomach
2	chr11:48352400-48353400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:48352400-48353800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr11:48353000-48359800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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