Variant report

Variant	esv2761863
Chromosome Location	chr15:34897132-34919354
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:34913751..34914597-chr15:35212096..35212867,7	K562	blood:
2	chr15:34912716..34916752-chr15:34917196..34920581,4	K562	blood:
3	chr15:34898803..34900649-chr15:34905656..34908079,2	K562	blood:
4	chr15:34908560..34909558-chr15:35212164..35213076,4	K562	blood:
5	chr13:92448522..92450690-chr15:34895323..34897374,2	K562	blood:
6	chr15:34892499..34894333-chr15:34896967..34899231,2	K562	blood:
7	chr15:34898803..34900649-chr15:34905656..34908079,2	K562	blood:
8	chr15:34913918..34914531-chr15:35212584..35213285,2	MCF-7	breast:
9	chr15:34912716..34916752-chr15:34917196..34920581,4	K562	blood:
10	chr15:34913694..34916752-chr15:34919011..34920724,3	K562	blood:
11	chr15:34907702..34910411-chr15:34952455..34954523,2	K562	blood:
12	chr15:34913694..34916752-chr15:34919011..34920724,3	K562	blood:
13	chr15:34913307..34914991-chr15:34929235..34931577,2	K562	blood:
14	chr15:34908586..34909269-chr15:35212549..35213068,2	MCF-7	breast:

No data

Extended variants
information (count: 639 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:639 , 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	rs141920168	chr15:34898010-34898011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76677753	chr15:34898066-34898067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34996493	chr15:34898069-34898070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538631167	chr15:34898154-34898155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550265941	chr15:34898165-34898166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568502216	chr15:34898206-34898207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186198937	chr15:34898211-34898212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2162270	chr15:34898221-34898222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545444960	chr15:34898249-34898250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554222917	chr15:34898263-34898264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560303028	chr15:34898363-34898364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7172994	chr15:34898387-34898388	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534098724	chr15:34898405-34898406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191649737	chr15:34898424-34898425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183561284	chr15:34898426-34898427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544607217	chr15:34898479-34898480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562784439	chr15:34898489-34898490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542946392	chr15:34898704-34898705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574885607	chr15:34898752-34898753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186364857	chr15:34898758-34898759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560534841	chr15:34898795-34898796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191259277	chr15:34898815-34898816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546428344	chr15:34898862-34898863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17817896	chr15:34898868-34898869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs532342969	chr15:34898933-34898934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550923093	chr15:34898960-34898961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550848360	chr15:34899043-34899044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374805104	chr15:34899057-34899058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568540880	chr15:34899094-34899095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535829116	chr15:34899098-34899099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547897524	chr15:34899112-34899113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551638935	chr15:34899115-34899116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566204083	chr15:34899160-34899161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534409590	chr15:34899184-34899185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182643660	chr15:34899195-34899196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531832198	chr15:34899202-34899203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538206934	chr15:34899306-34899307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556877654	chr15:34899325-34899326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186969711	chr15:34899383-34899384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4570807	chr15:34899398-34899399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs117891937	chr15:34899436-34899437	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs191339421	chr15:34899476-34899477	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs62004947	chr15:34899478-34899479	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546267359	chr15:34899479-34899480	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs115804052	chr15:34899547-34899548	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs55746941	chr15:34901257-34901258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548125113	chr15:34901262-34901263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34150418	chr15:34901299-34901300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3964612	chr15:34901322-34901323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs16954263	chr15:34901430-34901431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34898000-34898600	Enhancers	Fetal Lung	lung
2	chr15:34898600-34899000	Weak transcription	Fetal Lung	lung
3	chr15:34899000-34899400	Enhancers	Fetal Lung	lung
4	chr15:34899400-34899600	Bivalent Enhancer	Fetal Lung	lung
5	chr15:34901200-34903000	Enhancers	Primary hematopoietic stem cells	blood
6	chr15:34901400-34901800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr15:34901400-34901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:34901400-34901800	Enhancers	HUVEC	blood vessel
9	chr15:34901400-34902600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr15:34901400-34902800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr15:34901600-34901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:34901600-34902200	Bivalent Enhancer	Adipose Nuclei	Adipose
13	chr15:34901600-34902400	Enhancers	Fetal Heart	heart
14	chr15:34901800-34902000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr15:34901800-34902200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:34901800-34902200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr15:34901800-34902200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:34901800-34902200	Enhancers	Left Ventricle	heart
19	chr15:34901800-34902200	Enhancers	Right Atrium	heart
20	chr15:34901800-34902200	Enhancers	Right Ventricle	heart
21	chr15:34901800-34902400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr15:34901800-34902400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:34901800-34902400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:34901800-34902400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:34901800-34902400	Flanking Active TSS	HUVEC	blood vessel
26	chr15:34901800-34902600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr15:34902000-34902600	Enhancers	Primary T cells from cord blood	blood
28	chr15:34902000-34902600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
29	chr15:34902000-34902800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr15:34902000-34903000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr15:34902000-34903000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr15:34902200-34903200	Weak transcription	Left Ventricle	heart
33	chr15:34902400-34902800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr15:34902400-34902800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:34902400-34902800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:34902400-34903200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:34902400-34903200	Enhancers	HUVEC	blood vessel
38	chr15:34902600-34903000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr15:34902800-34903400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr15:34902800-34903400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr15:34902800-34905400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:34903000-34903400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr15:34903200-34903400	Enhancers	Left Ventricle	heart
44	chr15:34903200-34905400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:34903200-34908800	Weak transcription	HUVEC	blood vessel
46	chr15:34903400-34903600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr15:34903600-34912000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:34905200-34906600	Enhancers	K562	blood
49	chr15:34905400-34906000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:34905400-34906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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