Variant report

Variant	esv1803983
Chromosome Location	chr15:31760986-31776503
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:31768996..31771688-chr15:31773371..31775681,2	MCF-7	breast:
2	chr15:31753081..31754904-chr15:31769113..31772729,3	MCF-7	breast:
3	chr15:31753115..31755985-chr15:31766097..31768042,2	MCF-7	breast:
4	chr15:31768996..31771688-chr15:31773371..31775681,2	MCF-7	breast:
5	chr15:31775112..31777688-chr15:31780214..31782887,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTUD7A-1	chr15:31767607-31770705	NONHSAT041463

No data

Extended variants
information (count: 620 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2125617	chr15:31760986-31760987	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534279148	chr15:31760994-31760995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2125618	chr15:31761027-31761028	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74754522	chr15:31761035-31761036	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs549897464	chr15:31761041-31761042	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs563730440	chr15:31761042-31761043	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs2125619	chr15:31761104-31761105	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs552070127	chr15:31761124-31761125	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs565499921	chr15:31761141-31761142	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs528275398	chr15:31761182-31761183	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs548030233	chr15:31761200-31761201	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs150863025	chr15:31761216-31761217	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs572382835	chr15:31761234-31761235	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs115171140	chr15:31761268-31761269	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs542948192	chr15:31761284-31761285	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs561714238	chr15:31761311-31761312	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs35959740	chr15:31761317-31761318	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs539306771	chr15:31761340-31761341	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs559304222	chr15:31761341-31761342	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs190514578	chr15:31761343-31761344	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs541642333	chr15:31761397-31761398	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs544968282	chr15:31761402-31761403	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555185229	chr15:31761409-31761410	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146494011	chr15:31761428-31761429	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200306330	chr15:31761429-31761430	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574815376	chr15:31761439-31761440	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543917182	chr15:31761468-31761469	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563499586	chr15:31761496-31761497	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369568453	chr15:31761521-31761522	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28403178	chr15:31761525-31761526	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559218208	chr15:31761574-31761575	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs8034287	chr15:31761628-31761629	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547963756	chr15:31761632-31761633	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs568276966	chr15:31761648-31761649	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs530496369	chr15:31761686-31761687	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs550668457	chr15:31761699-31761700	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs11639012	chr15:31761703-31761704	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs34096409	chr15:31761716-31761717	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs570314249	chr15:31761718-31761719	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs139503967	chr15:31761766-31761767	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs553052516	chr15:31761774-31761775	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs181719838	chr15:31761788-31761789	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs372618085	chr15:31761797-31761798	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs566367060	chr15:31761821-31761822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12443255	chr15:31761826-31761827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554836937	chr15:31761835-31761836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12440316	chr15:31761868-31761869	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs543510712	chr15:31761870-31761871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557429819	chr15:31761940-31761941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546663802	chr15:31761944-31761945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Pancreatic cancer	17952125	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31749200-31764000	Weak transcription	Right Atrium	heart
2	chr15:31752000-31763800	Weak transcription	Primary T cells from cord blood	blood
3	chr15:31754400-31761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:31757800-31763400	Weak transcription	Spleen	Spleen
5	chr15:31758200-31764600	Weak transcription	Esophagus	oesophagus
6	chr15:31758200-31764600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:31758200-31774800	Weak transcription	Gastric	stomach
8	chr15:31758200-31775400	Weak transcription	Pancreas	Pancrea
9	chr15:31758600-31763600	Weak transcription	HMEC	breast
10	chr15:31759400-31764200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:31759600-31761000	Enhancers	Primary B cells from peripheral blood	blood
12	chr15:31760000-31762400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:31760000-31762600	Weak transcription	GM12878-XiMat	blood
14	chr15:31760200-31763000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:31760200-31763800	Weak transcription	NHEK	skin
16	chr15:31760200-31765000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr15:31760400-31763200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:31760400-31764000	Weak transcription	Primary B cells from cord blood	blood
19	chr15:31760800-31764000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:31761000-31761400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:31761000-31761800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr15:31761000-31763000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr15:31761000-31763200	Enhancers	Fetal Muscle Leg	muscle
24	chr15:31761400-31761600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:31761600-31761800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:31761800-31762200	Enhancers	Fetal Muscle Trunk	muscle
27	chr15:31762000-31762600	Enhancers	HSMMtube	muscle
28	chr15:31762200-31763000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr15:31762400-31762600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:31762600-31763000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:31762600-31763000	Weak transcription	HSMMtube	muscle
32	chr15:31762600-31764600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr15:31762600-31764600	Enhancers	GM12878-XiMat	blood
34	chr15:31762800-31764800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr15:31763000-31763200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:31763000-31763200	Enhancers	Primary B cells from peripheral blood	blood
37	chr15:31763000-31763200	Bivalent Enhancer	Fetal Stomach	stomach
38	chr15:31763000-31764000	Enhancers	Fetal Muscle Trunk	muscle
39	chr15:31763000-31764600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr15:31763000-31765000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr15:31763000-31766000	Enhancers	HSMM	muscle
42	chr15:31763000-31766000	Enhancers	HSMMtube	muscle
43	chr15:31763000-31766200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:31763200-31763600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr15:31763200-31763800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:31763200-31765600	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr15:31763200-31765800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:31763200-31765800	Enhancers	NH-A	brain
49	chr15:31763200-31766200	Enhancers	NHLF	lung
50	chr15:31763200-31766600	Enhancers	Fetal Stomach	stomach

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