Variant report

Variant	nsv569434
Chromosome Location	chr15:53845097-53860607
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:53839734..53842688-chr15:53844777..53846540,2	K562	blood:
2	chr15:53847180..53849439-chr15:53853767..53855337,2	MCF-7	breast:
3	chr15:53854915..53857646-chr15:53874393..53876986,2	MCF-7	breast:
4	chr15:53839749..53842575-chr15:53848742..53851441,2	MCF-7	breast:
5	chr15:53839488..53841156-chr15:53845536..53848480,2	MCF-7	breast:
6	chr15:53852608..53853531-chr3:63859887..63860601,2	MCF-7	breast:
7	chr15:53847180..53849439-chr15:53853767..53855337,2	MCF-7	breast:
8	chr15:53859427..53861280-chr15:53864189..53866503,2	MCF-7	breast:

No data

Extended variants
information (count: 541 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1906426	chr15:53845097-53845098	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74017435	chr15:53845157-53845158	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368704757	chr15:53845169-53845170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368071516	chr15:53845181-53845182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79631823	chr15:53845199-53845200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529269483	chr15:53845205-53845206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549529210	chr15:53845238-53845239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75451588	chr15:53845281-53845282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377142448	chr15:53845290-53845291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538310005	chr15:53845333-53845334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116476270	chr15:53845418-53845419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571700440	chr15:53845465-53845466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11853370	chr15:53845601-53845602	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192085071	chr15:53845614-53845615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139178383	chr15:53845636-53845637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73406245	chr15:53845646-53845647	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115092261	chr15:53845657-53845658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149932284	chr15:53845677-53845678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182971263	chr15:53845701-53845702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573630421	chr15:53845713-53845714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35752371	chr15:53845748-53845749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187308273	chr15:53845765-53845766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532974827	chr15:53845773-53845774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189763956	chr15:53845802-53845803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386784061	chr15:53845823-53845824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12438390	chr15:53845824-53845825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555699313	chr15:53845826-53845827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575535876	chr15:53845952-53845953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11070989	chr15:53845991-53845992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144986377	chr15:53845992-53845993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182376100	chr15:53846039-53846040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543100741	chr15:53846050-53846051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569250305	chr15:53846169-53846170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559612518	chr15:53846173-53846174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187754457	chr15:53846250-53846251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538013344	chr15:53846274-53846275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571848018	chr15:53846318-53846319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534125853	chr15:53846356-53846357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193108281	chr15:53846376-53846377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184234139	chr15:53846386-53846387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567847125	chr15:53846432-53846433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11070990	chr15:53846490-53846491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs62005904	chr15:53846526-53846527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117236478	chr15:53846588-53846589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574853874	chr15:53846602-53846603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10775154	chr15:53846607-53846608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370571588	chr15:53846611-53846612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577797831	chr15:53846631-53846632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145901247	chr15:53846687-53846688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147792694	chr15:53846696-53846697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53842400-53851000	Weak transcription	Liver	Liver
2	chr15:53842600-53847200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:53842600-53847400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr15:53842600-53851000	Weak transcription	Fetal Intestine Small	intestine
5	chr15:53843600-53852200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:53844200-53852200	Weak transcription	Small Intestine	intestine
7	chr15:53844600-53845800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:53845000-53845800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:53845400-53845600	Enhancers	Primary hematopoietic stem cells	blood
10	chr15:53845400-53845600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:53845600-53846600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:53845800-53847000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr15:53846600-53847200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:53847000-53847200	Enhancers	Primary hematopoietic stem cells	blood
15	chr15:53847000-53847800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr15:53847200-53848000	Active TSS	Primary hematopoietic stem cells	blood
17	chr15:53847200-53848000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:53847200-53848800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr15:53847200-53848800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:53847400-53848600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr15:53847800-53851800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:53848000-53848800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:53848000-53851000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr15:53848200-53848800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr15:53848600-53849000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr15:53848600-53850800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:53848800-53850600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:53848800-53850600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:53848800-53850800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:53848800-53851000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr15:53849000-53851200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:53850400-53850600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:53850600-53850800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:53850600-53850800	Enhancers	Brain Germinal Matrix	brain
35	chr15:53850600-53851800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:53850600-53851800	Enhancers	HepG2	liver
37	chr15:53850600-53852600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr15:53850600-53853200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr15:53850600-53853800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:53850800-53851600	Weak transcription	Brain Germinal Matrix	brain
41	chr15:53850800-53851800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:53850800-53852200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:53850800-53852800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr15:53850800-53853600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:53850800-53854000	Enhancers	Fetal Intestine Large	intestine
46	chr15:53850800-53854800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr15:53851000-53851400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr15:53851000-53851600	Enhancers	A549	lung
49	chr15:53851000-53852600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr15:53851000-53852800	Enhancers	Primary hematopoietic stem cells	blood

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