Variant report

Variant	nsv822301
Chromosome Location	chr3:155338203-155344202
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	chr3:155344052..155345697-chr3:155346615..155348940,3	K562	blood:

Extended variants
information (count: 258 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7644232	chr3:155338225-155338226	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546194676	chr3:155338257-155338258	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3908141	chr3:155338269-155338270	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs573170167	chr3:155338312-155338313	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3908142	chr3:155338331-155338332	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529888769	chr3:155338359-155338360	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562044174	chr3:155338361-155338362	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73005062	chr3:155338395-155338396	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374706233	chr3:155338417-155338418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541662193	chr3:155338418-155338419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73156517	chr3:155338424-155338425	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs199928894	chr3:155338447-155338448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551741506	chr3:155338448-155338449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570393674	chr3:155338473-155338474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190514474	chr3:155338480-155338481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145690719	chr3:155338488-155338489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114705534	chr3:155338542-155338543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs5853726	chr3:155338544-155338545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371206552	chr3:155338582-155338583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536049539	chr3:155338594-155338595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10936011	chr3:155338605-155338606	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569552960	chr3:155338606-155338607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540102513	chr3:155338619-155338620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202146298	chr3:155338628-155338629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75226213	chr3:155338629-155338630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs398071974	chr3:155338633-155338634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148870604	chr3:155338645-155338646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182439601	chr3:155338698-155338699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540275795	chr3:155338718-155338719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35574833	chr3:155338728-155338729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555820798	chr3:155338737-155338738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551397126	chr3:155338773-155338774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574096679	chr3:155338780-155338781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188053940	chr3:155338797-155338798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143535256	chr3:155338801-155338802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530636021	chr3:155338810-155338811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6802975	chr3:155338818-155338819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564228748	chr3:155338819-155338820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528050489	chr3:155338827-155338828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6803070	chr3:155338867-155338868	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375207500	chr3:155338908-155338909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538525427	chr3:155338923-155338924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568147112	chr3:155338932-155338933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529030954	chr3:155338936-155338937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550707411	chr3:155338994-155338995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75591257	chr3:155339038-155339039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191566779	chr3:155339042-155339043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6803375	chr3:155339043-155339044	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555063662	chr3:155339081-155339082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567087467	chr3:155339083-155339084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	21364760	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	22522925	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155335600-155338800	Enhancers	HepG2	liver
2	chr3:155336000-155338600	Enhancers	Dnd41	blood
3	chr3:155336000-155339000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:155336200-155338600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:155336200-155338800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:155336400-155338600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:155336400-155338600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:155336400-155338800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:155336400-155339000	Enhancers	Thymus	Thymus
10	chr3:155336400-155339200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:155336600-155338400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr3:155336600-155338600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:155336600-155338800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:155336600-155339200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:155336800-155346200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:155337000-155339000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:155337800-155338400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:155337800-155338400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr3:155338000-155338800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:155338000-155339000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:155338400-155338600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:155338400-155347000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:155338600-155346400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:155338600-155347000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:155338800-155340000	Weak transcription	HepG2	liver
26	chr3:155339000-155340000	Weak transcription	Thymus	Thymus
27	chr3:155340000-155340200	Enhancers	Thymus	Thymus
28	chr3:155340000-155340800	Enhancers	Liver	Liver
29	chr3:155340000-155340800	Enhancers	HepG2	liver
30	chr3:155343000-155346400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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