Variant report

Variant	nsv833008
Chromosome Location	chr15:53630471-53780618
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:61)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr15:53623501..53624538-chr15:53729891..53730882,6	MCF-7	breast:
2	chr15:53764582..53767473-chr15:53770323..53772488,2	MCF-7	breast:
3	chr15:53623358..53624355-chr15:53747177..53747986,4	MCF-7	breast:
4	chr15:53769287..53770876-chr15:53774426..53776268,2	MCF-7	breast:
5	chr15:53729402..53730935-chr15:53762168..53764681,2	MCF-7	breast:
6	chr15:53764851..53765366-chr15:53878705..53879636,2	MCF-7	breast:
7	chr15:53764582..53767473-chr15:53770323..53772488,2	MCF-7	breast:
8	chr15:53663627..53666576-chr15:53666710..53668848,3	K562	blood:
9	chr15:53704517..53705079-chr15:53729947..53730858,2	MCF-7	breast:
10	chr15:53646817..53649529-chr15:53650079..53652645,2	K562	blood:
11	chr15:53676126..53677259-chr15:53878307..53879565,6	MCF-7	breast:
12	chr15:53676366..53677226-chr15:53947378..53948497,3	MCF-7	breast:
13	chr15:53764621..53766901-chr15:53777731..53780214,2	MCF-7	breast:
14	chr15:53729402..53730935-chr15:53762168..53764681,2	MCF-7	breast:
15	chr15:53729933..53730858-chr15:53774459..53775291,2	MCF-7	breast:
16	chr15:53646817..53649529-chr15:53650079..53652645,2	K562	blood:
17	chr15:53756936..53759590-chr15:53761111..53762983,2	K562	blood:
18	chr15:53623501..53624759-chr15:53729879..53730882,11	MCF-7	breast:
19	chr15:53737930..53740530-chr15:53745920..53747519,3	MCF-7	breast:
20	chr15:53764621..53766901-chr15:53777731..53780214,2	MCF-7	breast:
21	chr15:53730512..53732111-chr15:53733346..53734868,2	MCF-7	breast:
22	chr15:53742047..53745419-chr15:53747908..53750168,3	MCF-7	breast:
23	chr15:53737930..53740530-chr15:53745920..53747519,3	MCF-7	breast:
24	chr12:97962191..97964156-chr15:53695039..53696540,2	MCF-7	breast:
25	chr15:53676613..53677768-chr15:53730185..53730843,4	MCF-7	breast:
26	chr15:53704517..53705079-chr15:53729947..53730858,2	MCF-7	breast:
27	chr15:53676762..53677326-chr15:53957733..53958557,2	MCF-7	breast:
28	chr15:53741815..53743947-chr15:53744291..53746195,2	MCF-7	breast:
29	chr15:53743101..53745441-chr15:53746760..53749359,2	MCF-7	breast:
30	chr15:53756936..53759590-chr15:53761111..53762983,2	K562	blood:
31	chr15:53769287..53770876-chr15:53774426..53776268,2	MCF-7	breast:
32	chr15:53742047..53745419-chr15:53747908..53750168,3	MCF-7	breast:
33	chr15:53743101..53745441-chr15:53746760..53749359,2	MCF-7	breast:
34	chr15:53633620..53635255-chr15:53636615..53639104,2	MCF-7	breast:
35	chr15:53676343..53677288-chr15:53803650..53804851,6	MCF-7	breast:
36	chr15:53648191..53650243-chr15:53655978..53658272,2	MCF-7	breast:
37	chr15:53623777..53624548-chr15:53729910..53730734,2	MCF-7	breast:
38	chr15:53689916..53690914-chr15:53729839..53730806,3	MCF-7	breast:
39	chr15:53633620..53635255-chr15:53636615..53639104,2	MCF-7	breast:
40	chr15:53676303..53677625-chr15:54008801..54010344,5	MCF-7	breast:
41	chr15:53689916..53690914-chr15:53729839..53730806,3	MCF-7	breast:
42	chr15:53698852..53701039-chr15:53701128..53703010,2	MCF-7	breast:
43	chr15:53680274..53680873-chr17:57920334..57921304,2	MCF-7	breast:
44	chr15:53716717..53718358-chr6:18893974..18896041,2	MCF-7	breast:
45	chr15:53698852..53701039-chr15:53701128..53703010,2	MCF-7	breast:
46	chr15:53648191..53650243-chr15:53655978..53658272,2	MCF-7	breast:
47	chr15:53676316..53677210-chr15:53803959..53804881,5	MCF-7	breast:
48	chr15:53729933..53730858-chr15:53774459..53775291,2	MCF-7	breast:
49	chr15:53676613..53677768-chr15:53730185..53730843,4	MCF-7	breast:
50	chr15:53741815..53743947-chr15:53744291..53746195,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC13C-4	chr15:53720847-53720909	NONHSAT043965
2	lnc-UNC13C-4	chr15:53721744-53722081	NONHSAT043965

No data

Extended variants
information (count: 4129 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:4129 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147633879	chr15:53630477-53630478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555474576	chr15:53630505-53630506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539857495	chr15:53630515-53630516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557758697	chr15:53630531-53630532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544365827	chr15:53630534-53630535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564733092	chr15:53630543-53630544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142184232	chr15:53630544-53630545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540946932	chr15:53630555-53630556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116201690	chr15:53630620-53630621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184317821	chr15:53630696-53630697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565645301	chr15:53630700-53630701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548206521	chr15:53630739-53630740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561510621	chr15:53630760-53630761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151189088	chr15:53630765-53630766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553802430	chr15:53630766-53630767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550375567	chr15:53630795-53630796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570327640	chr15:53630803-53630804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539206258	chr15:53630832-53630833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546494273	chr15:53630833-53630834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188864612	chr15:53630863-53630864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572848893	chr15:53630890-53630891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78840563	chr15:53630905-53630906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373154944	chr15:53630916-53630917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555767553	chr15:53630946-53630947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140241234	chr15:53630992-53630993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377029142	chr15:53631038-53631039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181295096	chr15:53631103-53631104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572228541	chr15:53631117-53631118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578225423	chr15:53631129-53631130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540873418	chr15:53631145-53631146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560657663	chr15:53631146-53631147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370105356	chr15:53631163-53631164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542575836	chr15:53631185-53631186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574418153	chr15:53631196-53631197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377665796	chr15:53631261-53631262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185551193	chr15:53631277-53631278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs272797	chr15:53631288-53631289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114938799	chr15:53631339-53631340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150320512	chr15:53631345-53631346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550660060	chr15:53631429-53631430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368001286	chr15:53631453-53631454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563791077	chr15:53631505-53631506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561510403	chr15:53631517-53631518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189144372	chr15:53631523-53631524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137886281	chr15:53631526-53631527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs272796	chr15:53631537-53631538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs560929103	chr15:53631554-53631555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377054611	chr15:53631562-53631563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs272795	chr15:53631614-53631615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs181621307	chr15:53631682-53631683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Breast cancer	21785460	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53628800-53630600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:53629400-53630800	Enhancers	HepG2	liver
3	chr15:53630800-53639000	Weak transcription	HepG2	liver
4	chr15:53633400-53633600	Bivalent Enhancer	A549	lung
5	chr15:53636200-53636400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:53636400-53637000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr15:53636400-53637000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr15:53636600-53637000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:53637000-53637600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:53638600-53639200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr15:53639000-53639400	Enhancers	HepG2	liver
12	chr15:53643800-53644000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:53644600-53644800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:53645800-53647600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:53650800-53652200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:53651000-53651200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
17	chr15:53651000-53651400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr15:53651000-53652000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:53651200-53651600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr15:53651600-53652400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:53652200-53654800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:53653200-53653400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr15:53653800-53654200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:53653800-53654200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:53665600-53666400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr15:53666000-53666400	Enhancers	HepG2	liver
27	chr15:53666400-53671200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr15:53667200-53667400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:53668800-53669000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:53669200-53670200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:53669200-53672600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:53669800-53670400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:53669800-53670400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:53670000-53670800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr15:53670200-53671000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:53671200-53671800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr15:53676600-53677400	Enhancers	Pancreas	Pancrea
38	chr15:53676600-53677400	Enhancers	HepG2	liver
39	chr15:53676800-53677400	Enhancers	Liver	Liver
40	chr15:53677400-53679200	Weak transcription	Pancreas	Pancrea
41	chr15:53677400-53680600	Weak transcription	HepG2	liver
42	chr15:53679200-53679400	Enhancers	Pancreas	Pancrea
43	chr15:53680600-53681200	Enhancers	HepG2	liver
44	chr15:53681400-53682200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:53681600-53681800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:53681600-53682000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:53681600-53682200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr15:53681600-53682200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:53681600-53682400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:53681800-53682200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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