Variant report

Variant	nsv1049319
Chromosome Location	chr15:53671945-53785267
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:52)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr15:53716717..53718358-chr6:18893974..18896041,2	MCF-7	breast:
2	chr15:53741815..53743947-chr15:53744291..53746195,2	MCF-7	breast:
3	chr15:53730512..53732111-chr15:53733346..53734868,2	MCF-7	breast:
4	chr15:53742047..53745419-chr15:53747908..53750168,3	MCF-7	breast:
5	chr15:53732985..53735418-chr15:53739615..53741150,2	MCF-7	breast:
6	chr15:53698852..53701039-chr15:53701128..53703010,2	MCF-7	breast:
7	chr15:53764621..53766901-chr15:53777731..53780214,2	MCF-7	breast:
8	chr15:53729402..53730935-chr15:53762168..53764681,2	MCF-7	breast:
9	chr15:53769287..53770876-chr15:53774426..53776268,2	MCF-7	breast:
10	chr15:53623501..53624759-chr15:53729879..53730882,11	MCF-7	breast:
11	chr15:53704517..53705079-chr15:53729947..53730858,2	MCF-7	breast:
12	chr15:53676366..53677226-chr15:53947378..53948497,3	MCF-7	breast:
13	chr15:53676613..53677768-chr15:53730185..53730843,4	MCF-7	breast:
14	chr15:53684798..53688248-chr15:53691211..53694395,3	MCF-7	breast:
15	chr15:53769287..53770876-chr15:53774426..53776268,2	MCF-7	breast:
16	chr15:53742047..53745419-chr15:53747908..53750168,3	MCF-7	breast:
17	chr15:53623777..53624548-chr15:53729910..53730734,2	MCF-7	breast:
18	chr15:53680274..53680873-chr17:57920334..57921304,2	MCF-7	breast:
19	chr15:53756936..53759590-chr15:53761111..53762983,2	K562	blood:
20	chr15:53684798..53688248-chr15:53691211..53694395,3	MCF-7	breast:
21	chr15:53764582..53767473-chr15:53770323..53772488,2	MCF-7	breast:
22	chr15:53676343..53677288-chr15:53803650..53804851,6	MCF-7	breast:
23	chr15:53704517..53705079-chr15:53729947..53730858,2	MCF-7	breast:
24	chr15:53764582..53767473-chr15:53770323..53772488,2	MCF-7	breast:
25	chr15:53701696..53703300-chr15:53703469..53706401,2	MCF-7	breast:
26	chr15:53743101..53745441-chr15:53746760..53749359,2	MCF-7	breast:
27	chr15:53732985..53735418-chr15:53739615..53741150,2	MCF-7	breast:
28	chr15:53676126..53677259-chr15:53878307..53879565,6	MCF-7	breast:
29	chr12:97962191..97964156-chr15:53695039..53696540,2	MCF-7	breast:
30	chr15:53676303..53677625-chr15:54008801..54010344,5	MCF-7	breast:
31	chr15:53698852..53701039-chr15:53701128..53703010,2	MCF-7	breast:
32	chr15:53623358..53624355-chr15:53747177..53747986,4	MCF-7	breast:
33	chr15:53676316..53677210-chr15:53803959..53804881,5	MCF-7	breast:
34	chr15:53729933..53730858-chr15:53774459..53775291,2	MCF-7	breast:
35	chr15:53146650..53147396-chr15:53729996..53730546,2	MCF-7	breast:
36	chr15:53764851..53765366-chr15:53878705..53879636,2	MCF-7	breast:
37	chr15:53676762..53677326-chr15:53957733..53958557,2	MCF-7	breast:
38	chr15:53729933..53730858-chr15:53774459..53775291,2	MCF-7	breast:
39	chr15:53623501..53624538-chr15:53729891..53730882,6	MCF-7	breast:
40	chr15:53764621..53766901-chr15:53777731..53780214,2	MCF-7	breast:
41	chr15:53756936..53759590-chr15:53761111..53762983,2	K562	blood:
42	chr15:53730512..53732111-chr15:53733346..53734868,2	MCF-7	breast:
43	chr15:53689916..53690914-chr15:53729839..53730806,3	MCF-7	breast:
44	chr15:53737930..53740530-chr15:53745920..53747519,3	MCF-7	breast:
45	chr15:53689916..53690914-chr15:53729839..53730806,3	MCF-7	breast:
46	chr15:53756382..53757254-chr17:59603422..59604382,2	MCF-7	breast:
47	chr15:53737930..53740530-chr15:53745920..53747519,3	MCF-7	breast:
48	chr15:53741815..53743947-chr15:53744291..53746195,2	MCF-7	breast:
49	chr15:53729402..53730935-chr15:53762168..53764681,2	MCF-7	breast:
50	chr15:53701696..53703300-chr15:53703469..53706401,2	MCF-7	breast:

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

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

No data

Extended variants
information (count: 3472 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:3472 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7169159	chr15:53671945-53671946	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147467426	chr15:53671959-53671960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553516925	chr15:53672006-53672007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535831955	chr15:53672014-53672015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76584710	chr15:53672022-53672023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139825206	chr15:53672026-53672027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576429030	chr15:53672037-53672038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544482124	chr15:53672083-53672084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564661178	chr15:53672142-53672143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578102239	chr15:53672154-53672155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540570887	chr15:53672162-53672163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560392314	chr15:53672185-53672186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375184685	chr15:53672211-53672212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565975133	chr15:53672238-53672239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528110490	chr15:53672254-53672255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545535398	chr15:53672255-53672256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7168732	chr15:53672264-53672265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576438192	chr15:53672269-53672270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561651298	chr15:53672303-53672304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530583443	chr15:53672307-53672308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187118682	chr15:53672311-53672312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570667577	chr15:53672328-53672329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539643492	chr15:53672329-53672330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575437017	chr15:53672334-53672335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191883137	chr15:53672335-53672336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566736419	chr15:53672389-53672390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535869766	chr15:53672394-53672395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184209628	chr15:53672403-53672404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79193974	chr15:53672411-53672412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1516410	chr15:53672463-53672464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187938371	chr15:53672491-53672492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193024686	chr15:53672510-53672511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558960276	chr15:53672513-53672514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540412974	chr15:53672550-53672551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4387548	chr15:53672556-53672557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs573967473	chr15:53672592-53672593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1516411	chr15:53672596-53672597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187446688	chr15:53676668-53676669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55855822	chr15:53676675-53676676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548625001	chr15:53676677-53676678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs8036605	chr15:53676702-53676703	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549725875	chr15:53676704-53676705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs8037058	chr15:53676735-53676736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs78501792	chr15:53676777-53676778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558225884	chr15:53676803-53676804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10851539	chr15:53676834-53676835	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574972650	chr15:53676869-53676870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534492358	chr15:53676892-53676893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192710575	chr15:53676896-53676897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574647042	chr15:53676973-53676974	Enhancers	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:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53669200-53672600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:53676600-53677400	Enhancers	Pancreas	Pancrea
3	chr15:53676600-53677400	Enhancers	HepG2	liver
4	chr15:53676800-53677400	Enhancers	Liver	Liver
5	chr15:53677400-53679200	Weak transcription	Pancreas	Pancrea
6	chr15:53677400-53680600	Weak transcription	HepG2	liver
7	chr15:53679200-53679400	Enhancers	Pancreas	Pancrea
8	chr15:53680600-53681200	Enhancers	HepG2	liver
9	chr15:53681400-53682200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:53681600-53681800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:53681600-53682000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:53681600-53682200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr15:53681600-53682200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:53681600-53682400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:53681800-53682200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr15:53681800-53682400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr15:53682000-53682200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr15:53682000-53682400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr15:53682000-53682600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr15:53684400-53685000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:53688200-53689000	Enhancers	HepG2	liver
22	chr15:53689000-53693800	Weak transcription	HepG2	liver
23	chr15:53690200-53690400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:53690200-53690800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:53690400-53693000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:53693000-53693400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr15:53693000-53693600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:53693200-53693600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:53693400-53694600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:53693800-53694800	Enhancers	HepG2	liver
31	chr15:53694600-53694800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:53694800-53695000	Enhancers	Pancreas	Pancrea
33	chr15:53695600-53696400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:53695800-53696600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:53696800-53697600	Enhancers	Pancreas	Pancrea
36	chr15:53696800-53697800	Enhancers	Liver	Liver
37	chr15:53697600-53707600	Weak transcription	Pancreas	Pancrea
38	chr15:53699800-53700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:53700200-53700600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:53700800-53703000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:53702800-53703800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr15:53703000-53703400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:53703000-53703400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:53703800-53704200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr15:53703800-53704600	Enhancers	HepG2	liver
46	chr15:53704200-53704400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr15:53704400-53706200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr15:53704600-53705000	Weak transcription	HepG2	liver
49	chr15:53705000-53707200	Enhancers	HepG2	liver
50	chr15:53706200-53707400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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