Variant report

Variant	nsv1012553
Chromosome Location	chr3:161354221-161371789
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:161354763..161357600-chr3:161359609..161362263,3	K562	blood:
2	chr3:161354917..161360014-chr3:161360082..161365935,6	MCF-7	breast:
3	chr3:161347197..161349552-chr3:161356011..161358857,2	MCF-7	breast:
4	chr3:161358345..161359934-chr3:161364741..161367383,2	K562	blood:
5	chr3:161354917..161360014-chr3:161360082..161365935,6	MCF-7	breast:
6	chr3:161355978..161357623-chr3:161357960..161359774,3	MCF-7	breast:
7	chr3:161354763..161357600-chr3:161359609..161362263,3	K562	blood:
8	chr3:161358345..161359934-chr3:161364741..161367383,2	K562	blood:
9	chr3:161355978..161357623-chr3:161357960..161359774,3	MCF-7	breast:

No data

Extended variants
information (count: 511 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541419162	chr3:161354229-161354230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561419899	chr3:161354262-161354263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141729783	chr3:161354287-161354288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150548217	chr3:161354291-161354292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563512984	chr3:161354292-161354293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555173833	chr3:161354354-161354355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183236012	chr3:161354374-161354375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2404569	chr3:161354414-161354415	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527289001	chr3:161354425-161354426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76200022	chr3:161354428-161354429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62279628	chr3:161354490-161354491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188158650	chr3:161354544-161354545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553976236	chr3:161354574-161354575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs58190633	chr3:161354589-161354590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193015118	chr3:161354645-161354646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534109111	chr3:161354647-161354648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78989894	chr3:161354650-161354651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572619254	chr3:161354675-161354676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534698761	chr3:161354727-161354728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554976664	chr3:161354729-161354730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78958985	chr3:161354740-161354741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78647230	chr3:161354816-161354817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563650108	chr3:161354850-161354851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185212853	chr3:161354868-161354869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575081571	chr3:161354874-161354875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546037052	chr3:161354877-161354878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564631175	chr3:161354917-161354918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73877419	chr3:161354945-161354946	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547053576	chr3:161354963-161354964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367574856	chr3:161354977-161354978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79693055	chr3:161354979-161354980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11293760	chr3:161354987-161354988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9878982	chr3:161354999-161355000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11391462	chr3:161355010-161355011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374894714	chr3:161355012-161355013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11282213	chr3:161355014-161355015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529670825	chr3:161355022-161355023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550059142	chr3:161355144-161355145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369669713	chr3:161355145-161355146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528863844	chr3:161355152-161355153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9879265	chr3:161355163-161355164	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1515740	chr3:161355165-161355166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs566020226	chr3:161355168-161355169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535090097	chr3:161355169-161355170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12638912	chr3:161355191-161355192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1515741	chr3:161355207-161355208	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574736862	chr3:161355264-161355265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs537056274	chr3:161355322-161355323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs189197750	chr3:161355421-161355422	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs577161300	chr3:161355440-161355441	Enhancers Weak transcription Flanking Active TSS	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
Prostate cancer	18632612	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
Bladder cancer	21909424	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

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161351000-161355200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:161351400-161355200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:161353200-161354600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:161353200-161359200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:161353400-161356200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:161353400-161357000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:161353600-161355200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:161353800-161355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:161353800-161355200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:161353800-161355400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:161354200-161354400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr3:161354400-161355400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:161354600-161355000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:161355000-161357000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:161355200-161355400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:161355200-161355600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr3:161355200-161355800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:161355200-161355800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr3:161355200-161355800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr3:161355200-161356200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:161355200-161356600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:161355200-161356600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr3:161355400-161356000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr3:161355400-161356200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:161355400-161356400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr3:161355800-161359000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:161356000-161362800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr3:161356200-161356400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:161356200-161356400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:161356200-161358000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:161356400-161356800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:161356600-161357800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr3:161356600-161360800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:161356800-161357200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:161357000-161357200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:161357000-161357400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:161357400-161358400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr3:161357800-161358000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:161358000-161358200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:161358000-161358200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr3:161358000-161358400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr3:161358200-161358600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:161358400-161358800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:161358400-161361800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:161358600-161359000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr3:161358800-161359000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr3:161358800-161361000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:161359000-161360600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:161359000-161361000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:161359200-161360400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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