Variant report

Variant	esv11550
Chromosome Location	chr15:72353301-72395288
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72393359..72395081-chr15:72408256..72411185,2	K562	blood:
2	chr15:72380042..72381883-chr15:72383169..72385505,2	MCF-7	breast:
3	chr15:72355239..72357340-chr15:72363526..72365084,2	K562	blood:
4	chr15:72380042..72381883-chr15:72383169..72385505,2	MCF-7	breast:
5	chr15:72378259..72378845-chr15:72448189..72448926,2	MCF-7	breast:
6	chr15:72342663..72345423-chr15:72357313..72359041,2	MCF-7	breast:
7	chr15:72355239..72357340-chr15:72363526..72365084,2	K562	blood:
8	chr15:72394985..72397263-chr15:72398518..72401032,2	MCF-7	breast:
9	chr15:72383759..72385848-chr15:72409093..72411983,2	MCF-7	breast:
10	chr15:72394930..72397507-chr15:72409085..72411660,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000066933	chromatin interactions
ENSG00000166192	chromatin interactions
ENSG00000223253	chromatin interactions

Extended variants
information (count: 1461 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1461 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534398919	chr15:72353301-72353302	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs149954212	chr15:72353302-72353303	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs552421747	chr15:72353312-72353313	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs13329116	chr15:72353338-72353339	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191119764	chr15:72353350-72353351	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556747914	chr15:72353361-72353362	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs575442134	chr15:72353384-72353385	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546126825	chr15:72353412-72353413	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557848338	chr15:72353448-72353449	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183268560	chr15:72353487-72353488	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573226011	chr15:72353498-72353499	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540643278	chr15:72353513-72353514	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562132331	chr15:72353536-72353537	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147623165	chr15:72353562-72353563	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544774404	chr15:72353645-72353646	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563136943	chr15:72353749-72353750	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533452991	chr15:72353756-72353757	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73436326	chr15:72353815-72353816	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76348002	chr15:72353884-72353885	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570336741	chr15:72353902-72353903	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139956998	chr15:72353909-72353910	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528050050	chr15:72353919-72353920	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546192798	chr15:72353949-72353950	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562128673	chr15:72354038-72354039	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527986950	chr15:72354078-72354079	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567776754	chr15:72354124-72354125	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535215485	chr15:72354254-72354255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142168856	chr15:72354274-72354275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28805409	chr15:72354275-72354276	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539339647	chr15:72354286-72354287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557999833	chr15:72354369-72354370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188717908	chr15:72354372-72354373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147785093	chr15:72354374-72354375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148829224	chr15:72354386-72354387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574171004	chr15:72354388-72354389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544762171	chr15:72354399-72354400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562919353	chr15:72354436-72354437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143426542	chr15:72354442-72354443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554459379	chr15:72354464-72354465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545294736	chr15:72354516-72354517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562647855	chr15:72354526-72354527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567808676	chr15:72354537-72354538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4445848	chr15:72354598-72354599	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs147976655	chr15:72354644-72354645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546180574	chr15:72354655-72354656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35144689	chr15:72354660-72354661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs200496606	chr15:72354671-72354672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77390622	chr15:72354736-72354737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116335387	chr15:72354849-72354850	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs550688263	chr15:72354860-72354861	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72301000-72361200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr15:72333200-72353800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr15:72334000-72355000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:72339000-72353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr15:72339000-72363400	Weak transcription	Primary B cells from cord blood	blood
6	chr15:72344000-72355200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:72344400-72353600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr15:72349600-72356400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:72350200-72355400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:72350400-72353400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:72350400-72353400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:72350400-72353600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:72350400-72354000	Weak transcription	Hela-S3	cervix
14	chr15:72350400-72354800	Weak transcription	Brain Anterior Caudate	brain
15	chr15:72350400-72355600	Weak transcription	HMEC	breast
16	chr15:72350600-72353800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:72350600-72354200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr15:72350600-72354600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr15:72350800-72360000	Weak transcription	A549	lung
20	chr15:72351200-72354800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:72351200-72355400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:72351200-72361000	Weak transcription	Fetal Intestine Large	intestine
23	chr15:72351200-72363400	Weak transcription	NHDF-Ad	bronchial
24	chr15:72351200-72395800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:72351600-72353400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:72351600-72355200	Weak transcription	Osteobl	bone
27	chr15:72352400-72355400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr15:72352800-72353400	Strong transcription	Thymus	Thymus
29	chr15:72352800-72353600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr15:72352800-72353800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr15:72352800-72353800	Enhancers	Psoas Muscle	Psoas
32	chr15:72352800-72354000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:72352800-72354000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:72352800-72354000	Enhancers	Right Atrium	heart
35	chr15:72352800-72354200	Enhancers	Left Ventricle	heart
36	chr15:72352800-72354200	Enhancers	HSMMtube	muscle
37	chr15:72352800-72354400	Enhancers	Ovary	ovary
38	chr15:72353000-72353400	Enhancers	HSMM	muscle
39	chr15:72353000-72353600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr15:72353000-72353600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr15:72353000-72353600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:72353000-72353600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr15:72353000-72353600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr15:72353000-72353600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:72353000-72353600	Enhancers	Colon Smooth Muscle	Colon
46	chr15:72353000-72353600	Genic enhancers	Fetal Muscle Leg	muscle
47	chr15:72353000-72353600	Enhancers	Right Ventricle	heart
48	chr15:72353000-72353800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr15:72353000-72353800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr15:72353000-72353800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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