Variant report

Variant	esv2757596
Chromosome Location	chr15:34901161-34941957
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:34913751..34914597-chr15:35212096..35212867,7	K562	blood:
2	chr15:34908586..34909269-chr15:35212549..35213068,2	MCF-7	breast:
3	chr15:34913307..34914991-chr15:34929235..34931577,2	K562	blood:
4	chr15:34913307..34914991-chr15:34929235..34931577,2	K562	blood:
5	chr15:34941429..34944034-chr15:34952465..34954233,2	K562	blood:
6	chr15:34934770..34937620-chr15:34950647..34953239,2	K562	blood:
7	chr15:34912716..34916752-chr15:34917196..34920581,4	K562	blood:
8	chr15:34908560..34909558-chr15:35212164..35213076,4	K562	blood:
9	chr15:34931128..34933994-chr15:34934903..34936649,2	K562	blood:
10	chr15:34912716..34916752-chr15:34917196..34920581,4	K562	blood:
11	chr15:34913918..34914531-chr15:35212584..35213285,2	MCF-7	breast:
12	chr15:34937548..34939695-chr15:34950801..34953012,2	K562	blood:
13	chr15:34898803..34900649-chr15:34905656..34908079,2	K562	blood:
14	chr15:34927785..34933151-chr15:34934497..34941490,8	K562	blood:
15	chr15:34934825..34936603-chr15:34945044..34948146,4	K562	blood:
16	chr15:34940257..34942550-chr15:34950335..34951889,2	K562	blood:
17	chr15:34941344..34943269-chr15:34977002..34979213,2	K562	blood:
18	chr15:34940940..34942564-chr15:34999108..35001019,2	K562	blood:
19	chr15:34907702..34910411-chr15:34952455..34954523,2	K562	blood:
20	chr15:34913694..34916752-chr15:34919011..34920724,3	K562	blood:
21	chr15:34933035..34934548-chr15:34938251..34939915,2	K562	blood:
22	chr15:34927785..34933151-chr15:34934497..34941490,8	K562	blood:
23	chr15:34931128..34933994-chr15:34934903..34936649,2	K562	blood:
24	chr15:34933035..34934548-chr15:34938251..34939915,2	K562	blood:
25	chr15:34913694..34916752-chr15:34919011..34920724,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261304	chromatin interactions

Extended variants
information (count: 1216 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1216 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55746941	chr15:34901257-34901258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548125113	chr15:34901262-34901263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34150418	chr15:34901299-34901300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3964612	chr15:34901322-34901323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs16954263	chr15:34901430-34901431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184783189	chr15:34901507-34901508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551713376	chr15:34901543-34901544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569943066	chr15:34901560-34901561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537196514	chr15:34901562-34901563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150096512	chr15:34901576-34901577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549005099	chr15:34901608-34901609	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs574328320	chr15:34901611-34901612	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs146669189	chr15:34901628-34901629	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs16954747	chr15:34901665-34901666	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
15	rs572261440	chr15:34901685-34901686	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs140218833	chr15:34901723-34901724	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs564154626	chr15:34901740-34901741	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs576084805	chr15:34901767-34901768	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs543576762	chr15:34901772-34901773	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs373909193	chr15:34901789-34901790	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs561731514	chr15:34901881-34901882	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs145897016	chr15:34901897-34901898	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190452576	chr15:34901953-34901954	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs138456464	chr15:34901960-34901961	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs111477575	chr15:34902040-34902041	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs113748872	chr15:34902067-34902068	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533723050	chr15:34902112-34902113	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs551785564	chr15:34902121-34902122	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs570062370	chr15:34902214-34902215	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531524413	chr15:34902228-34902229	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550021632	chr15:34902296-34902297	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530562891	chr15:34902310-34902311	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537034610	chr15:34902327-34902328	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72710819	chr15:34902350-34902351	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76288426	chr15:34902393-34902394	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567373786	chr15:34902402-34902403	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs531661648	chr15:34902444-34902445	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs117939798	chr15:34902462-34902463	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs144067369	chr15:34902463-34902464	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs538816646	chr15:34902475-34902476	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs76141579	chr15:34902523-34902524	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs181748189	chr15:34902549-34902550	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs79115364	chr15:34902582-34902583	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs77226022	chr15:34902587-34902588	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs75140518	chr15:34902604-34902605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565732417	chr15:34902630-34902631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553895621	chr15:34902640-34902641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369573822	chr15:34902649-34902650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539747344	chr15:34902654-34902655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34034428	chr15:34902662-34902663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34901200-34903000	Enhancers	Primary hematopoietic stem cells	blood
2	chr15:34901400-34901800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr15:34901400-34901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:34901400-34901800	Enhancers	HUVEC	blood vessel
5	chr15:34901400-34902600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr15:34901400-34902800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr15:34901600-34901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:34901600-34902200	Bivalent Enhancer	Adipose Nuclei	Adipose
9	chr15:34901600-34902400	Enhancers	Fetal Heart	heart
10	chr15:34901800-34902000	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr15:34901800-34902200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:34901800-34902200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr15:34901800-34902200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:34901800-34902200	Enhancers	Left Ventricle	heart
15	chr15:34901800-34902200	Enhancers	Right Atrium	heart
16	chr15:34901800-34902200	Enhancers	Right Ventricle	heart
17	chr15:34901800-34902400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr15:34901800-34902400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:34901800-34902400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:34901800-34902400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:34901800-34902400	Flanking Active TSS	HUVEC	blood vessel
22	chr15:34901800-34902600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr15:34902000-34902600	Enhancers	Primary T cells from cord blood	blood
24	chr15:34902000-34902600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
25	chr15:34902000-34902800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr15:34902000-34903000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr15:34902000-34903000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr15:34902200-34903200	Weak transcription	Left Ventricle	heart
29	chr15:34902400-34902800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr15:34902400-34902800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:34902400-34902800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:34902400-34903200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:34902400-34903200	Enhancers	HUVEC	blood vessel
34	chr15:34902600-34903000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr15:34902800-34903400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr15:34902800-34903400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:34902800-34905400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:34903000-34903400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr15:34903200-34903400	Enhancers	Left Ventricle	heart
40	chr15:34903200-34905400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:34903200-34908800	Weak transcription	HUVEC	blood vessel
42	chr15:34903400-34903600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr15:34903600-34912000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:34905200-34906600	Enhancers	K562	blood
45	chr15:34905400-34906000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:34905400-34906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:34906000-34909400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:34906200-34909600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:34906400-34906600	Enhancers	HSMM	muscle
50	chr15:34906600-34908800	Weak transcription	K562	blood

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