Variant report

Variant	nsv877766
Chromosome Location	chr3:162474834-162498758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:
2	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
3	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:
4	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
5	chr3:162475543..162478495-chr3:162480272..162482533,2	MCF-7	breast:
6	chr3:162475543..162478495-chr3:162480272..162482533,2	MCF-7	breast:

Extended variants
information (count: 942 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:942 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9758775	chr3:162474834-162474835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541852869	chr3:162474865-162474866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144990428	chr3:162474962-162474963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540963024	chr3:162475029-162475030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9757274	chr3:162475108-162475109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551767189	chr3:162475113-162475114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574133575	chr3:162475143-162475144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149094833	chr3:162475214-162475215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142215524	chr3:162475247-162475248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374030654	chr3:162475254-162475255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76155994	chr3:162475288-162475289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116768470	chr3:162475329-162475330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114835618	chr3:162475401-162475402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548947700	chr3:162475404-162475405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116618609	chr3:162475466-162475467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530938083	chr3:162475496-162475497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77345898	chr3:162475586-162475587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550905557	chr3:162475605-162475606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151234566	chr3:162475708-162475709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539889728	chr3:162475764-162475765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546765326	chr3:162475766-162475767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16852369	chr3:162475875-162475876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142318050	chr3:162475895-162475896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554449797	chr3:162475903-162475904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574343005	chr3:162475924-162475925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146376588	chr3:162475929-162475930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189684999	chr3:162475949-162475950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182346818	chr3:162476018-162476019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538412965	chr3:162476060-162476061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187869425	chr3:162476132-162476133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569795234	chr3:162476177-162476178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544106617	chr3:162476200-162476201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35089514	chr3:162476218-162476219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561734933	chr3:162476248-162476249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567326782	chr3:162476289-162476290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139104243	chr3:162476354-162476355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542401547	chr3:162476358-162476359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534766967	chr3:162476479-162476480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35450371	chr3:162476482-162476483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562371879	chr3:162476503-162476504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141669561	chr3:162476518-162476519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550717842	chr3:162476569-162476570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564540188	chr3:162476590-162476591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1390792	chr3:162476625-162476626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547109420	chr3:162476630-162476631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147069486	chr3:162476647-162476648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138262243	chr3:162476649-162476650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192548756	chr3:162476668-162476669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535940187	chr3:162476686-162476687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568029570	chr3:162476699-162476700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162470800-162480400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:162471400-162480400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:162473600-162475200	Weak transcription	Dnd41	blood
4	chr3:162475200-162475600	Enhancers	Dnd41	blood
5	chr3:162480200-162481000	Enhancers	Dnd41	blood
6	chr3:162480400-162481200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:162480400-162482000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:162481000-162483200	Weak transcription	Dnd41	blood
9	chr3:162481200-162482400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:162481200-162483400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:162481400-162481600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr3:162481600-162492200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:162481800-162482400	Enhancers	Fetal Intestine Large	intestine
14	chr3:162482200-162482800	Enhancers	NHDF-Ad	bronchial
15	chr3:162482400-162482800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:162482400-162483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:162482800-162487000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:162483200-162484400	ZNF genes & repeats	Dnd41	blood
19	chr3:162483400-162484000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:162483400-162484200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:162483400-162484400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr3:162483400-162485200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:162483600-162484200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:162484200-162484600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:162484400-162490200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:162485000-162485200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:162485200-162487000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:162485200-162492200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:162487000-162487600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:162487000-162489200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:162487600-162489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:162489000-162490000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:162490000-162492400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:162490200-162491400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:162491200-162493400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:162491400-162493200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:162491400-162493400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:162491400-162493800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:162491600-162493200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:162492000-162493200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr3:162492000-162493400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:162492000-162494400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr3:162492200-162492800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr3:162492200-162492800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:162492400-162493000	Enhancers	Dnd41	blood
46	chr3:162492400-162493200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:162492800-162493400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:162493000-162494600	Weak transcription	Dnd41	blood
49	chr3:162493200-162494400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:162493200-162494400	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links