Variant report

Variant	esv3310927
Chromosome Location	chr15:72383998-72390096
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	chr15:72383759..72385848-chr15:72409093..72411983,2	MCF-7	breast:
2	chr15:72380042..72381883-chr15:72383169..72385505,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166192	chromatin interactions
ENSG00000066933	chromatin interactions

Extended variants
information (count: 218 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189954248	chr15:72383999-72384000	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs555663713	chr15:72384010-72384011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574047365	chr15:72384050-72384051	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs536114981	chr15:72384058-72384059	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs58300874	chr15:72384059-72384060	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs76450422	chr15:72384071-72384072	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs398027878	chr15:72384072-72384073	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs28542557	chr15:72384106-72384107	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs182890621	chr15:72384117-72384118	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs575345820	chr15:72384118-72384119	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545659608	chr15:72384124-72384125	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201504390	chr15:72384145-72384146	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs188542573	chr15:72384158-72384159	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs528313229	chr15:72384170-72384171	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371454546	chr15:72384204-72384205	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561970247	chr15:72384205-72384206	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529294126	chr15:72384212-72384213	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550999376	chr15:72384213-72384214	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569229014	chr15:72384229-72384230	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs151260463	chr15:72384245-72384246	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551599726	chr15:72384248-72384249	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs193112084	chr15:72384254-72384255	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534128893	chr15:72384259-72384260	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs555600781	chr15:72384320-72384321	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs567659839	chr15:72384326-72384327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs535081301	chr15:72384348-72384349	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs556946528	chr15:72384352-72384353	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs575236338	chr15:72384356-72384357	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs545851327	chr15:72384364-72384365	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs184173600	chr15:72384452-72384453	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs140441838	chr15:72384479-72384480	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs7172309	chr15:72384483-72384484	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs188687349	chr15:72384494-72384495	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs34366663	chr15:72384543-72384544	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs150170151	chr15:72384640-72384641	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs146742631	chr15:72384685-72384686	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs529231481	chr15:72384784-72384785	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs191604147	chr15:72384868-72384869	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs562866938	chr15:72384879-72384880	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs554224061	chr15:72384885-72384886	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs574058641	chr15:72384920-72384921	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs533192933	chr15:72384938-72384939	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs183745842	chr15:72385093-72385094	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs551805466	chr15:72385094-72385095	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs566634611	chr15:72385097-72385098	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs8039245	chr15:72385106-72385107	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs201515087	chr15:72385117-72385118	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs552710338	chr15:72385142-72385143	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs556778668	chr15:72385153-72385154	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs549213960	chr15:72385209-72385210	Weak transcription Enhancers	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:73 , 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	chr15:72378400-72388400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:72378400-72388600	Weak transcription	Fetal Lung	lung
13	chr15:72378800-72391400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:72378800-72393200	Weak transcription	Fetal Intestine Large	intestine
15	chr15:72378800-72395800	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:72379000-72388600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:72379000-72388600	Weak transcription	Fetal Muscle Leg	muscle
18	chr15:72379000-72395600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr15:72379000-72407800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:72379200-72393200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr15:72379200-72395600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:72379400-72385200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr15:72379600-72388400	Weak transcription	Fetal Intestine Small	intestine
24	chr15:72379800-72384400	Weak transcription	Stomach Mucosa	stomach
25	chr15:72379800-72388400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr15:72379800-72391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:72379800-72406200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:72380000-72384800	Weak transcription	Left Ventricle	heart
29	chr15:72380000-72388200	Weak transcription	Fetal Stomach	stomach
30	chr15:72380000-72407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:72380200-72386000	Weak transcription	Right Ventricle	heart
32	chr15:72380200-72388600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:72380200-72395600	Weak transcription	Brain Anterior Caudate	brain
34	chr15:72380200-72395600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr15:72380400-72384400	Weak transcription	Fetal Heart	heart
36	chr15:72380400-72390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:72380400-72390400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:72380600-72393200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:72380800-72395400	Weak transcription	Psoas Muscle	Psoas
40	chr15:72381000-72391400	Weak transcription	Primary T cells from cord blood	blood
41	chr15:72383400-72388400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:72384400-72384800	Enhancers	Fetal Heart	heart
43	chr15:72384400-72384800	Enhancers	Stomach Mucosa	stomach
44	chr15:72384400-72384800	Enhancers	K562	blood
45	chr15:72384800-72385000	Enhancers	Left Ventricle	heart
46	chr15:72384800-72392400	Weak transcription	Stomach Mucosa	stomach
47	chr15:72385200-72385400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr15:72386000-72386200	Enhancers	Right Ventricle	heart
49	chr15:72388200-72388800	ZNF genes & repeats	Fetal Stomach	stomach
50	chr15:72388200-72389000	ZNF genes & repeats	Fetal Brain Female	brain

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