Variant report

Variant	nsv592115
Chromosome Location	chr3:156092548-156097836
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156090883..156092603-chr3:156093278..156096049,2	K562	blood:
2	chr3:156085716..156088226-chr3:156095271..156097532,2	MCF-7	breast:
3	chr3:156089108..156092383-chr3:156093518..156096511,3	K562	blood:
4	chr3:156096464..156098715-chr3:156098972..156101153,2	MCF-7	breast:
5	chr3:156090883..156092603-chr3:156093278..156096049,2	K562	blood:

Extended variants
information (count: 197 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572223131	chr3:156092589-156092590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73873344	chr3:156092590-156092591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531730697	chr3:156092632-156092633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190851039	chr3:156092665-156092666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546092967	chr3:156092711-156092712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373489945	chr3:156092730-156092731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550863415	chr3:156092856-156092857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562897272	chr3:156092954-156092955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549861796	chr3:156093021-156093022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112498224	chr3:156093087-156093088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113263517	chr3:156093094-156093095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530652978	chr3:156093170-156093171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182234788	chr3:156093186-156093187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138729431	chr3:156093190-156093191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549391940	chr3:156093207-156093208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187728485	chr3:156093208-156093209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78159212	chr3:156093244-156093245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77418390	chr3:156093257-156093258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577300130	chr3:156093273-156093274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575312527	chr3:156093306-156093307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539597075	chr3:156093313-156093314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73873345	chr3:156093344-156093345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144747665	chr3:156093354-156093355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76885719	chr3:156093389-156093390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192689742	chr3:156093421-156093422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374270363	chr3:156093572-156093573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373035761	chr3:156093612-156093613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139601387	chr3:156093619-156093620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71310473	chr3:156093621-156093622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112566753	chr3:156093678-156093679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117801816	chr3:156093707-156093708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533485597	chr3:156093754-156093755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188791230	chr3:156093769-156093770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192931009	chr3:156093770-156093771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141787606	chr3:156093805-156093806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549504811	chr3:156093832-156093833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567626831	chr3:156093856-156093857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538260717	chr3:156093869-156093870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184771896	chr3:156093888-156093889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373325646	chr3:156093891-156093892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569115566	chr3:156094009-156094010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187983376	chr3:156094039-156094040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530095930	chr3:156094061-156094062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191252783	chr3:156094158-156094159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572703442	chr3:156094193-156094194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146241506	chr3:156094274-156094275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555057564	chr3:156094312-156094313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113214976	chr3:156094318-156094319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183971697	chr3:156094371-156094372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59449974	chr3:156094393-156094394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156088600-156096000	Weak transcription	Placenta	Placenta
2	chr3:156089600-156092600	Enhancers	HSMMtube	muscle
3	chr3:156090800-156094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:156090800-156100600	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:156091200-156092600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:156091800-156092600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:156091800-156092800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:156091800-156095000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:156092400-156101600	Weak transcription	Aorta	Aorta
10	chr3:156092800-156093000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:156094000-156094200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:156094200-156105000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:156094600-156094800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr3:156094600-156096000	Enhancers	Fetal Heart	heart
15	chr3:156094800-156097600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:156095000-156095400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr3:156095200-156095400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:156096000-156096200	Enhancers	Placenta	Placenta
19	chr3:156097400-156098000	Enhancers	Gastric	stomach
20	chr3:156097600-156097800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr3:156097800-156098200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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