Variant report

Variant	nsv947894
Chromosome Location	chr10:43377983-43389998
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373871450	chr10:43378171-43378172	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs533777534	chr10:43378181-43378182	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs558406027	chr10:43378239-43378240	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs183844588	chr10:43378280-43378281	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs114162752	chr10:43378292-43378293	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs148222017	chr10:43378309-43378310	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187100204	chr10:43378314-43378315	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs35155201	chr10:43378315-43378316	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs542191381	chr10:43378319-43378320	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs35454026	chr10:43378324-43378325	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192434561	chr10:43378325-43378326	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs527719725	chr10:43378377-43378378	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs546157123	chr10:43378378-43378379	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564445572	chr10:43378386-43378387	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs531660460	chr10:43378387-43378388	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs183933572	chr10:43378391-43378392	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559424141	chr10:43381022-43381023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374491163	chr10:43381039-43381040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554763850	chr10:43381055-43381056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551161860	chr10:43381062-43381063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569559445	chr10:43381076-43381077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78790843	chr10:43381090-43381091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549290966	chr10:43381126-43381127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543070354	chr10:43381151-43381152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540518233	chr10:43381184-43381185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113705572	chr10:43381196-43381197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181000710	chr10:43381202-43381203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539089075	chr10:43381237-43381238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557487875	chr10:43381274-43381275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575951219	chr10:43381359-43381360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185453433	chr10:43381372-43381373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535883649	chr10:43383212-43383213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369182757	chr10:43383234-43383235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566445921	chr10:43383241-43383242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533829289	chr10:43383313-43383314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113400429	chr10:43383443-43383444	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs559187669	chr10:43383577-43383578	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs577139890	chr10:43383644-43383645	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs35199516	chr10:43383649-43383650	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs184668893	chr10:43383673-43383674	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556202792	chr10:43383692-43383693	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs118072376	chr10:43383693-43383694	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs11239806	chr10:43383717-43383718	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs141300855	chr10:43383719-43383720	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs572340032	chr10:43383731-43383732	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs2488286	chr10:43383749-43383750	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs533782648	chr10:43383799-43383800	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs189506748	chr10:43383816-43383817	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs558793974	chr10:43383829-43383830	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs191189096	chr10:43383832-43383833	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43378000-43378400	Active TSS	Fetal Heart	heart
2	chr10:43381000-43381400	Enhancers	Gastric	stomach
3	chr10:43383200-43383400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:43383400-43384400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:43383400-43384600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr10:43383600-43384400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:43383600-43384800	Enhancers	Fetal Muscle Leg	muscle

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