Variant report

Variant	nsv569918
Chromosome Location	chr15:72383229-72388067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72380042..72381883-chr15:72383169..72385505,2	MCF-7	breast:
2	chr15:72383759..72385848-chr15:72409093..72411983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066933	chromatin interactions
ENSG00000166192	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11072343	chr15:72383229-72383230	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367963032	chr15:72383240-72383241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540601873	chr15:72383274-72383275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558956983	chr15:72383279-72383280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547178793	chr15:72383316-72383317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28633621	chr15:72383323-72383324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574110688	chr15:72383330-72383331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28620472	chr15:72383349-72383350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28538118	chr15:72383350-72383351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541496456	chr15:72383354-72383355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191150066	chr15:72383375-72383376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12441087	chr15:72383405-72383406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530579883	chr15:72383485-72383486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373937627	chr15:72383538-72383539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34991002	chr15:72383539-72383540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74602131	chr15:72383540-72383541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577171122	chr15:72383547-72383548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374601149	chr15:72383552-72383553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28408067	chr15:72383570-72383571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564222459	chr15:72383589-72383590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528426124	chr15:72383634-72383635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547003873	chr15:72383638-72383639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113459993	chr15:72383663-72383664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185639473	chr15:72383666-72383667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368134786	chr15:72383719-72383720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551052256	chr15:72383724-72383725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549636587	chr15:72383770-72383771	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs569373290	chr15:72383771-72383772	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs539641788	chr15:72383795-72383796	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs12438532	chr15:72383823-72383824	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537523961	chr15:72383848-72383849	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs371993344	chr15:72383915-72383916	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs538785387	chr15:72383936-72383937	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs148753200	chr15:72383955-72383956	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189954248	chr15:72383999-72384000	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs555663713	chr15:72384010-72384011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs574047365	chr15:72384050-72384051	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs536114981	chr15:72384058-72384059	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs58300874	chr15:72384059-72384060	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs76450422	chr15:72384071-72384072	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs398027878	chr15:72384072-72384073	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs28542557	chr15:72384106-72384107	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182890621	chr15:72384117-72384118	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs575345820	chr15:72384118-72384119	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs545659608	chr15:72384124-72384125	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201504390	chr15:72384145-72384146	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs188542573	chr15:72384158-72384159	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs528313229	chr15:72384170-72384171	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs371454546	chr15:72384204-72384205	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs561970247	chr15:72384205-72384206	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72351200-72395800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:72361600-72390600	Weak transcription	Aorta	Aorta
3	chr15:72361600-72391400	Weak transcription	Ovary	ovary
4	chr15:72367200-72407600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:72372200-72399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:72373600-72394400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:72375000-72408200	Weak transcription	Primary B cells from cord blood	blood
8	chr15:72375800-72395600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:72377200-72388200	Weak transcription	Fetal Brain Female	brain
10	chr15:72377800-72397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:72378400-72383600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:72378400-72388400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:72378400-72388600	Weak transcription	Fetal Lung	lung
14	chr15:72378800-72391400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:72378800-72393200	Weak transcription	Fetal Intestine Large	intestine
16	chr15:72378800-72395800	Weak transcription	Colon Smooth Muscle	Colon
17	chr15:72379000-72388600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:72379000-72388600	Weak transcription	Fetal Muscle Leg	muscle
19	chr15:72379000-72395600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:72379000-72407800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:72379200-72393200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr15:72379200-72395600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:72379400-72383600	Weak transcription	HSMM	muscle
24	chr15:72379400-72385200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:72379600-72388400	Weak transcription	Fetal Intestine Small	intestine
26	chr15:72379800-72384400	Weak transcription	Stomach Mucosa	stomach
27	chr15:72379800-72388400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr15:72379800-72391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:72379800-72406200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:72380000-72384800	Weak transcription	Left Ventricle	heart
31	chr15:72380000-72388200	Weak transcription	Fetal Stomach	stomach
32	chr15:72380000-72407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:72380200-72386000	Weak transcription	Right Ventricle	heart
34	chr15:72380200-72388600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:72380200-72395600	Weak transcription	Brain Anterior Caudate	brain
36	chr15:72380200-72395600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:72380400-72384400	Weak transcription	Fetal Heart	heart
38	chr15:72380400-72390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:72380400-72390400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:72380600-72393200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:72380800-72395400	Weak transcription	Psoas Muscle	Psoas
42	chr15:72381000-72391400	Weak transcription	Primary T cells from cord blood	blood
43	chr15:72383200-72383400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:72383400-72388400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:72384400-72384800	Enhancers	Fetal Heart	heart
46	chr15:72384400-72384800	Enhancers	Stomach Mucosa	stomach
47	chr15:72384400-72384800	Enhancers	K562	blood
48	chr15:72384800-72385000	Enhancers	Left Ventricle	heart
49	chr15:72384800-72392400	Weak transcription	Stomach Mucosa	stomach
50	chr15:72385200-72385400	Enhancers	Sigmoid Colon	Sigmoid Colon

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