Variant report

Variant	nsv877255
Chromosome Location	chr3:103487522-103581156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:103517464..103519066-chr3:103520798..103522354,2	K562	blood:
2	chr3:103517464..103519066-chr3:103520798..103522354,2	K562	blood:
3	chr3:103575079..103576806-chr3:103584240..103586997,2	K562	blood:
4	chr12:57117722..57120174-chr3:103567759..103569281,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196531	chromatin interactions

Extended variants
information (count: 1017 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1017 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569864728	chr3:103496611-103496612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72964168	chr3:103496616-103496617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77315757	chr3:103496621-103496622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578047138	chr3:103496663-103496664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141280552	chr3:103496669-103496670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553753314	chr3:103496733-103496734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572365211	chr3:103496863-103496864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553406334	chr3:103496972-103496973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73164255	chr3:103496978-103496979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35236905	chr3:103496995-103496996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531772038	chr3:103496999-103497000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16849343	chr3:103504420-103504421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565023714	chr3:103504421-103504422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148783134	chr3:103504442-103504443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547437291	chr3:103504452-103504453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559638113	chr3:103504464-103504465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181436175	chr3:103504496-103504497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548505483	chr3:103504527-103504528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569747733	chr3:103504535-103504536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143778084	chr3:103504595-103504596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547424445	chr3:103504602-103504603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549991403	chr3:103504660-103504661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184094291	chr3:103504681-103504682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538622214	chr3:103504722-103504723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557770001	chr3:103504793-103504794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200620011	chr3:103504874-103504875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553755360	chr3:103504880-103504881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55740133	chr3:103504907-103504908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529736114	chr3:103504961-103504962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77788215	chr3:103504966-103504967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188384884	chr3:103504991-103504992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561686519	chr3:103504992-103504993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544007490	chr3:103505021-103505022	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs146888902	chr3:103505062-103505063	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573869748	chr3:103505094-103505095	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs577015507	chr3:103505122-103505123	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs180945707	chr3:103505139-103505140	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559380811	chr3:103505144-103505145	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs140699946	chr3:103505169-103505170	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541738047	chr3:103505172-103505173	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563635011	chr3:103505200-103505201	Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs373218146	chr3:103505202-103505203	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs143191263	chr3:103505211-103505212	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs35558707	chr3:103505241-103505242	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs562749104	chr3:103505273-103505274	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs140209458	chr3:103505300-103505301	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs532481672	chr3:103505302-103505303	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs35647079	chr3:103505303-103505304	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs533299555	chr3:103505372-103505373	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs115575405	chr3:103505406-103505407	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Developmental delay	22180640	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103496600-103497000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:103504400-103506800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr3:103505000-103505200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr3:103505000-103505400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:103505000-103505400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:103505000-103506800	Enhancers	Fetal Heart	heart
7	chr3:103505200-103505400	Flanking Bivalent TSS/Enh	Pancreatic Islets	Pancreatic Islet
8	chr3:103505200-103505600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:103505200-103505600	Enhancers	Fetal Kidney	kidney
10	chr3:103505200-103505600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:103505600-103506000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:103506000-103506800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:103506400-103506600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr3:103513200-103514200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:103513400-103513800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:103513400-103513800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:103513400-103514000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:103513400-103514000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:103513400-103514000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:103513400-103514000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:103513400-103514200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:103513800-103514200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:103527200-103527600	ZNF genes & repeats	Lung	lung
24	chr3:103529400-103532400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:103532200-103532600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:103532200-103533000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:103532200-103533000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:103532200-103533200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:103532200-103533200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:103532400-103532800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:103532400-103533400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr3:103532600-103533000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:103532800-103538000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:103533000-103533200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:103533000-103537000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:103533200-103537000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:103533200-103537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:103533200-103537200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:103533400-103537400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:103537000-103537800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:103537000-103538600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:103537000-103538600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr3:103537200-103537600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:103537200-103538600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr3:103537200-103538800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr3:103537200-103538800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr3:103537400-103538800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr3:103537600-103538000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:103537600-103538400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:103537600-103538400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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