Variant report

Variant	nsv877769
Chromosome Location	chr3:162486664-162626585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
2	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
3	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
4	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
5	chr16:87583726..87584390-chr3:162551047..162551567,2	MCF-7	breast:
6	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
7	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:
8	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
9	chr16:87583669..87584291-chr3:162551047..162551567,2	MCF-7	breast:
10	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
11	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
12	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
13	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:

No data

Extended variants
information (count: 1664 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1664 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9682116	chr3:162486664-162486665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532568391	chr3:162486671-162486672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552579359	chr3:162486696-162486697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77758082	chr3:162486701-162486702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369572299	chr3:162486723-162486724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568892963	chr3:162486739-162486740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187586998	chr3:162486756-162486757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62393495	chr3:162486769-162486770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs987233	chr3:162486832-162486833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536013370	chr3:162486850-162486851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556431196	chr3:162486905-162486906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575897047	chr3:162486917-162486918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140618139	chr3:162486918-162486919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564307903	chr3:162486933-162486934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73167629	chr3:162486941-162486942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571690003	chr3:162486946-162486947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112006146	chr3:162486958-162486959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541159945	chr3:162487051-162487052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560815588	chr3:162487056-162487057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374348664	chr3:162487102-162487103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574976780	chr3:162487110-162487111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151031290	chr3:162487146-162487147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529136730	chr3:162487266-162487267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535919259	chr3:162487307-162487308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563996561	chr3:162487327-162487328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532886948	chr3:162487351-162487352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555916127	chr3:162487382-162487383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546505469	chr3:162487402-162487403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559828087	chr3:162487413-162487414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549679676	chr3:162487521-162487522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528473797	chr3:162487558-162487559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190718745	chr3:162487586-162487587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568422375	chr3:162487587-162487588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529914223	chr3:162487590-162487591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73024447	chr3:162487614-162487615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs569490902	chr3:162487671-162487672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185687359	chr3:162487698-162487699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567699198	chr3:162487756-162487757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558418972	chr3:162487762-162487763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565713670	chr3:162487763-162487764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9757215	chr3:162487773-162487774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537795253	chr3:162487791-162487792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535048925	chr3:162487858-162487859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554667203	chr3:162487861-162487862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574425033	chr3:162487878-162487879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549164191	chr3:162487887-162487888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9755088	chr3:162487888-162487889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139712139	chr3:162487954-162487955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138358816	chr3:162487974-162487975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577505909	chr3:162487989-162487990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162481600-162492200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:162482800-162487000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:162484400-162490200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:162485200-162487000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:162485200-162492200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:162487000-162487600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:162487000-162489200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:162487600-162489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:162489000-162490000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:162490000-162492400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:162490200-162491400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:162491200-162493400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:162491400-162493200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:162491400-162493400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:162491400-162493800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:162491600-162493200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:162492000-162493200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:162492000-162493400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:162492000-162494400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:162492200-162492800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr3:162492200-162492800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:162492400-162493000	Enhancers	Dnd41	blood
23	chr3:162492400-162493200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:162492800-162493400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:162493000-162494600	Weak transcription	Dnd41	blood
26	chr3:162493200-162494400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:162493200-162494400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:162493800-162495000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:162494400-162494600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:162494400-162495400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:162494600-162495200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:162494600-162496000	Enhancers	Dnd41	blood
33	chr3:162495200-162495400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:162495200-162500200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:162495400-162497800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:162496000-162498000	Weak transcription	Dnd41	blood
37	chr3:162497800-162498200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr3:162497800-162498200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr3:162497800-162498400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:162497800-162498400	Enhancers	Brain Hippocampus Middle	brain
41	chr3:162497800-162498400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr3:162497800-162498400	Enhancers	Ovary	ovary
43	chr3:162498000-162498400	Enhancers	Small Intestine	intestine
44	chr3:162498000-162498600	Enhancers	Dnd41	blood
45	chr3:162498200-162498800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:162500200-162502600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr3:162503200-162503400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr3:162503400-162519400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:162509200-162512000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr3:162509800-162511000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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