Variant report

Variant	esv3324196
Chromosome Location	chr15:43584885-43587433
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:43585058..43586868-chr15:43621413..43623111,2	K562	blood:
2	chr15:43582742..43587018-chr15:43587403..43593084,5	K562	blood:
3	chr15:43578993..43581997-chr15:43583826..43586143,3	K562	blood:
4	chr15:43584770..43587744-chr15:43618210..43620882,2	MCF-7	breast:
5	chr15:43585264..43587919-chr15:43621418..43624239,2	K562	blood:
6	chr15:43586330..43589415-chr15:43618040..43621005,4	K562	blood:
7	chr15:43583170..43585409-chr15:43590584..43593084,2	K562	blood:
8	chr15:43577270..43578995-chr15:43583941..43586463,2	K562	blood:
9	chr15:43585553..43587315-chr15:43622236..43624327,2	MCF-7	breast:
10	chr15:43582742..43587018-chr15:43587403..43593084,5	K562	blood:
11	chr15:43586588..43588941-chr15:43618040..43620629,3	K562	blood:
12	chr15:43477092..43479943-chr15:43584228..43585873,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168806	chromatin interactions
ENSG00000261687	chromatin interactions
ENSG00000166946	chromatin interactions
ENSG00000168803	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547797851	chr15:43584888-43584889	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs115515221	chr15:43584899-43584900	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs142979320	chr15:43584905-43584906	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs150654822	chr15:43584932-43584933	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs369160289	chr15:43584934-43584935	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs139097536	chr15:43584942-43584943	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557114118	chr15:43584947-43584948	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533462257	chr15:43584952-43584953	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs138948811	chr15:43584972-43584973	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371409061	chr15:43584975-43584976	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs144917527	chr15:43584985-43584986	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs140272697	chr15:43585008-43585009	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs144550213	chr15:43585023-43585024	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs149443794	chr15:43585039-43585040	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs143806974	chr15:43585046-43585047	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs201174110	chr15:43585072-43585073	Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs74948281	chr15:43585088-43585089	Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs143553579	chr15:43585102-43585103	Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs150973733	chr15:43585115-43585116	Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs577173496	chr15:43585131-43585132	Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs374044566	chr15:43585142-43585143	Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs543125845	chr15:43585143-43585144	Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs267604217	chr15:43585144-43585145	Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs555479634	chr15:43585157-43585158	Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs556749129	chr15:43585171-43585172	Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs376541022	chr15:43585172-43585173	Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs373568791	chr15:43585173-43585174	Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs573802957	chr15:43585232-43585233	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs372510306	chr15:43585282-43585283	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs542437461	chr15:43585296-43585297	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs559634720	chr15:43585325-43585326	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs140749555	chr15:43585445-43585446	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs188304210	chr15:43585458-43585459	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs528365005	chr15:43585502-43585503	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs538238	chr15:43585520-43585521	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs534299649	chr15:43585576-43585577	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs544428723	chr15:43585584-43585585	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs142922088	chr15:43585601-43585602	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs201009314	chr15:43585616-43585617	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs201860586	chr15:43585627-43585628	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs141012742	chr15:43585672-43585673	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs201355476	chr15:43585709-43585710	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs529516892	chr15:43585710-43585711	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs150218635	chr15:43585733-43585734	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs549292415	chr15:43585746-43585747	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs200426492	chr15:43585751-43585752	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs534992291	chr15:43585766-43585767	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs557991131	chr15:43585768-43585769	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs370591750	chr15:43585775-43585776	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs201585894	chr15:43585812-43585813	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43584600-43585400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:43584600-43585600	Enhancers	Adipose Nuclei	Adipose
3	chr15:43584800-43585000	Bivalent Enhancer	HSMM	muscle
4	chr15:43584800-43585200	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr15:43584800-43585200	Bivalent Enhancer	NH-A	brain
6	chr15:43584800-43585800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:43584800-43586000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:43584800-43586000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr15:43584800-43586400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:43585000-43585200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr15:43585000-43585200	Bivalent Enhancer	HepG2	liver
12	chr15:43585000-43585800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
13	chr15:43585000-43586600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:43585200-43585400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr15:43585200-43585600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr15:43585200-43585600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr15:43585200-43585800	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr15:43585400-43585600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr15:43585400-43585600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr15:43585400-43585600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr15:43585400-43585600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr15:43585400-43585600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:43585400-43585600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:43585400-43585600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr15:43585400-43585600	Bivalent Enhancer	Primary T cells from cord blood	blood
26	chr15:43585400-43585800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr15:43585400-43585800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr15:43585400-43585800	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr15:43585400-43586000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr15:43585400-43586000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr15:43585400-43586000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
32	chr15:43585600-43585800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr15:43585600-43585800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr15:43585600-43585800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:43585600-43585800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr15:43585600-43585800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:43585600-43585800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr15:43585600-43585800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
39	chr15:43585600-43585800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:43585600-43585800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:43585600-43585800	Bivalent Enhancer	Adipose Nuclei	Adipose
42	chr15:43585600-43585800	Enhancers	Right Ventricle	heart
43	chr15:43585600-43585800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
44	chr15:43585600-43586000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr15:43585600-43586200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr15:43585600-43586400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr15:43585600-43586400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr15:43585600-43586600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr15:43585600-43586600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:43585600-43586600	Enhancers	Lung	lung

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