Variant report

Variant	esv3449979
Chromosome Location	chr15:43677710-43679708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43671018..43673018-chr15:43678114..43680369,2	K562	blood:
2	chr15:43662885..43665399-chr15:43678484..43680491,2	MCF-7	breast:
3	chr15:43663286..43666933-chr15:43675071..43678230,5	K562	blood:
4	chr15:43663323..43666198-chr15:43675979..43677850,2	K562	blood:
5	chr15:43675492..43679390-chr15:43681135..43683414,3	K562	blood:

Variant related genes	Relation type
ENSG00000137822	chromatin interactions
ENSG00000140265	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572625545	chr15:43677746-43677747	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34086922	chr15:43677788-43677789	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555772377	chr15:43677789-43677790	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs3217626	chr15:43677790-43677791	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs397840390	chr15:43677791-43677792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541634398	chr15:43677793-43677794	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372462052	chr15:43677806-43677807	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558422953	chr15:43677833-43677834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181386313	chr15:43677884-43677885	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185843860	chr15:43677886-43677887	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs150591045	chr15:43677887-43677888	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563259770	chr15:43677922-43677923	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs77527770	chr15:43677924-43677925	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373149682	chr15:43677940-43677941	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538491647	chr15:43677944-43677945	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191091404	chr15:43677957-43677958	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200679530	chr15:43677976-43677977	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201393666	chr15:43677979-43677980	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139658236	chr15:43677996-43677997	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373245268	chr15:43678012-43678013	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371309743	chr15:43678030-43678031	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11635172	chr15:43678040-43678041	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551147821	chr15:43678079-43678080	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149743986	chr15:43678096-43678097	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147411843	chr15:43678117-43678118	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370787144	chr15:43678174-43678175	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181025613	chr15:43678176-43678177	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368005550	chr15:43678202-43678203	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569993963	chr15:43678288-43678289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187289083	chr15:43678348-43678349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549445715	chr15:43678371-43678372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200038712	chr15:43678376-43678377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535367855	chr15:43678377-43678378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558353931	chr15:43678383-43678384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371402330	chr15:43678405-43678406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191224065	chr15:43678481-43678482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367585568	chr15:43678492-43678493	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs372242208	chr15:43678501-43678502	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200279819	chr15:43678503-43678504	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs200238154	chr15:43678506-43678507	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs183013671	chr15:43678512-43678513	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs202117466	chr15:43678516-43678517	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542204097	chr15:43678536-43678537	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs369271164	chr15:43678540-43678541	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs202078031	chr15:43678542-43678543	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs542775386	chr15:43678543-43678544	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs375661088	chr15:43678575-43678576	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs68072059	chr15:43678576-43678577	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs12906688	chr15:43678577-43678578	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374777364	chr15:43678578-43678579	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Mental retardation	17124404	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43664000-43692600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:43664200-43678000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:43664600-43687800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr15:43664600-43688000	Weak transcription	Stomach Mucosa	stomach
5	chr15:43664600-43695600	Weak transcription	Fetal Heart	heart
6	chr15:43665000-43687800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:43665000-43730000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:43665200-43686600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:43667400-43681600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:43667600-43681600	Strong transcription	Hela-S3	cervix
11	chr15:43668000-43717800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:43668200-43680400	Strong transcription	Fetal Stomach	stomach
13	chr15:43668200-43680600	Strong transcription	Fetal Muscle Leg	muscle
14	chr15:43668200-43680800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:43668200-43681400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr15:43668200-43681800	Strong transcription	Dnd41	blood
17	chr15:43668200-43683800	Strong transcription	Liver	Liver
18	chr15:43668200-43702200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:43668200-43732800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:43668400-43679600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr15:43668400-43680600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr15:43668400-43680800	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr15:43668400-43683800	Strong transcription	Primary T cells from cord blood	blood
24	chr15:43668600-43679600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:43668600-43680800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:43668600-43680800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:43668600-43681200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:43668600-43681400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr15:43668600-43681400	Strong transcription	Fetal Thymus	thymus
30	chr15:43668600-43681600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:43668600-43681800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:43668600-43681800	Strong transcription	HepG2	liver
33	chr15:43668600-43682000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:43668600-43682000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:43668600-43682000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:43668800-43678800	Strong transcription	Primary B cells from cord blood	blood
37	chr15:43668800-43679200	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr15:43668800-43680400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:43668800-43680800	Strong transcription	Adipose Nuclei	Adipose
40	chr15:43668800-43681200	Strong transcription	Fetal Intestine Large	intestine
41	chr15:43668800-43681400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr15:43668800-43681400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr15:43668800-43681400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr15:43668800-43681600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr15:43669000-43680600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:43669000-43681400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr15:43669200-43681000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:43669200-43681400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:43670600-43703200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr15:43670800-43678600	Strong transcription	Thymus	Thymus

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