Variant report

Variant	esv33910
Chromosome Location	chr15:34987902-34990969
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	chr15:34988822..34991429-chr15:34996883..34999400,2	K562	blood:
2	chr15:34983650..34987842-chr15:34989482..34992979,5	K562	blood:
3	chr15:34989332..34992979-chr15:34995533..34998034,4	K562	blood:
4	chr15:34949722..34952645-chr15:34986997..34989606,2	K562	blood:
5	chr15:34983650..34987345-chr15:34990001..34992979,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114546.1-12	chr15:34988228-34988460	NONHSAT041602

No data

Extended variants
information (count: 107 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149666287	chr15:34987905-34987906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6495710	chr15:34987914-34987915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567301813	chr15:34987928-34987929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4924131	chr15:34987991-34987992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs556584847	chr15:34988034-34988035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538941509	chr15:34988119-34988120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551970194	chr15:34988170-34988171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16959507	chr15:34988200-34988201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531266257	chr15:34988223-34988224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554060327	chr15:34988299-34988300	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs188786933	chr15:34988343-34988344	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs148582054	chr15:34988374-34988375	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs142958323	chr15:34988395-34988396	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs80316786	chr15:34988441-34988442	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs147725213	chr15:34988492-34988493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142490865	chr15:34988574-34988575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1469893	chr15:34988664-34988665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146636452	chr15:34988686-34988687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192829349	chr15:34988730-34988731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555368220	chr15:34988802-34988803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573582776	chr15:34988815-34988816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540628219	chr15:34988862-34988863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183349563	chr15:34988874-34988875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111300364	chr15:34988875-34988876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545102263	chr15:34988916-34988917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563913135	chr15:34988929-34988930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531125157	chr15:34988968-34988969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11857049	chr15:34989053-34989054	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs62006096	chr15:34989077-34989078	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs62006097	chr15:34989081-34989082	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs140459740	chr15:34989087-34989088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540515520	chr15:34989090-34989091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186835445	chr15:34989092-34989093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550648883	chr15:34989152-34989153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78516697	chr15:34989172-34989173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376792983	chr15:34989299-34989300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552131993	chr15:34989361-34989362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536800511	chr15:34989379-34989380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150398350	chr15:34989386-34989387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369293924	chr15:34989493-34989494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528861610	chr15:34989504-34989505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191312180	chr15:34989511-34989512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11073058	chr15:34989626-34989627	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
44	rs368922669	chr15:34989628-34989629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577703217	chr15:34989629-34989630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545171316	chr15:34989662-34989663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183762688	chr15:34989669-34989670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11073059	chr15:34989674-34989675	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138121601	chr15:34989701-34989702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376827570	chr15:34989707-34989708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	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
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34985800-34989000	Weak transcription	K562	blood
2	chr15:34986200-34991600	Weak transcription	HUVEC	blood vessel
3	chr15:34988600-34989600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr15:34988600-34989800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr15:34988800-34989000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:34988800-34989800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr15:34989000-34990200	Enhancers	K562	blood
8	chr15:34989000-34993800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:34989200-34989800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:34989200-34990000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr15:34989200-34990000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr15:34989400-34989800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr15:34989600-34993800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr15:34989800-34993800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:34990000-34993800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr15:34990200-34992600	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links