Variant report

Variant	esv2755105
Chromosome Location	chr3:161349991-161371789
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:161354763..161357600-chr3:161359609..161362263,3	K562	blood:
2	chr3:161355978..161357623-chr3:161357960..161359774,3	MCF-7	breast:
3	chr3:161354917..161360014-chr3:161360082..161365935,6	MCF-7	breast:
4	chr3:161346627..161348617-chr3:161350742..161352671,2	K562	blood:
5	chr3:161358345..161359934-chr3:161364741..161367383,2	K562	blood:
6	chr3:161347807..161349997-chr3:161376409..161377941,2	MCF-7	breast:
7	chr3:161354917..161360014-chr3:161360082..161365935,6	MCF-7	breast:
8	chr3:161358345..161359934-chr3:161364741..161367383,2	K562	blood:
9	chr3:161355978..161357623-chr3:161357960..161359774,3	MCF-7	breast:
10	chr3:161347197..161349552-chr3:161356011..161358857,2	MCF-7	breast:
11	chr3:161354763..161357600-chr3:161359609..161362263,3	K562	blood:

No data

Extended variants
information (count: 662 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1399907	chr3:161349991-161349992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536869688	chr3:161350009-161350010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551011559	chr3:161350013-161350014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190176138	chr3:161350088-161350089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570613235	chr3:161350127-161350128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539442254	chr3:161350173-161350174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16832954	chr3:161350280-161350281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs377207257	chr3:161350314-161350315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149043415	chr3:161350332-161350333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79460584	chr3:161350355-161350356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111543017	chr3:161350367-161350368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555806997	chr3:161350387-161350388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75616493	chr3:161350408-161350409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575758885	chr3:161350431-161350432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544484201	chr3:161350432-161350433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557091470	chr3:161350456-161350457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577054646	chr3:161350534-161350535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73877415	chr3:161350550-161350551	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571132069	chr3:161350602-161350603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35188908	chr3:161350616-161350617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397763404	chr3:161350622-161350623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528117918	chr3:161350639-161350640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542074455	chr3:161350663-161350664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539824906	chr3:161350711-161350712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561842456	chr3:161350737-161350738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530681993	chr3:161350808-161350809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550547018	chr3:161350844-161350845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34585933	chr3:161350848-161350849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570599087	chr3:161350915-161350916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533284623	chr3:161350941-161350942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546568012	chr3:161350988-161350989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566499675	chr3:161351009-161351010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527944650	chr3:161351064-161351065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535495872	chr3:161351085-161351086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553052101	chr3:161351098-161351099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17422719	chr3:161351130-161351131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538425226	chr3:161351137-161351138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558424809	chr3:161351188-161351189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74285289	chr3:161351196-161351197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1399906	chr3:161351226-161351227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369557686	chr3:161351284-161351285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181877350	chr3:161351356-161351357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572759864	chr3:161351453-161351454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62279623	chr3:161351456-161351457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114834063	chr3:161351462-161351463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530750291	chr3:161351511-161351512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185669341	chr3:161351519-161351520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547705675	chr3:161351526-161351527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62279624	chr3:161351548-161351549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532981728	chr3:161351564-161351565	Weak transcription Enhancers	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161348800-161350000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr3:161348800-161350200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr3:161348800-161350800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:161348800-161350800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:161349400-161350200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr3:161349400-161350800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:161349400-161351000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:161349400-161351000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:161350000-161350800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:161350000-161353000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:161350200-161353000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:161350400-161350600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr3:161350800-161351600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:161350800-161351600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:161350800-161351800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:161351000-161351400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:161351000-161355200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:161351400-161355200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:161351600-161351800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:161351600-161351800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:161351800-161352000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:161351800-161353200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:161351800-161353200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:161352000-161353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:161353000-161353200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr3:161353000-161353400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:161353000-161353600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr3:161353000-161353800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:161353000-161353800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:161353200-161353400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:161353200-161353600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:161353200-161354600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:161353200-161359200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:161353400-161356200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:161353400-161357000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:161353600-161353800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:161353600-161355200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:161353800-161355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:161353800-161355200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:161353800-161355400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr3:161354200-161354400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr3:161354400-161355400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:161354600-161355000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:161355000-161357000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:161355200-161355400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:161355200-161355600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr3:161355200-161355800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:161355200-161355800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:161355200-161355800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr3:161355200-161356200	Enhancers	HUES64 Cell Line	embryonic stem cell

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