Variant report

Variant	nsv1036168
Chromosome Location	chr15:60465000-60530343
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:60485373..60487217-chr15:60489194..60491532,2	K562	blood:
2	chr15:60496595..60498965-chr15:60508023..60510282,2	MCF-7	breast:
3	chr15:60480511..60484017-chr15:60486940..60489829,4	K562	blood:
4	chr15:60509606..60511372-chr15:60511804..60514494,2	K562	blood:
5	chr15:60496595..60498965-chr15:60508023..60510282,2	MCF-7	breast:
6	chr15:60506932..60509665-chr15:60518567..60521216,2	MCF-7	breast:
7	chr15:60506932..60509665-chr15:60518567..60521216,2	MCF-7	breast:
8	chr15:60489185..60491331-chr15:60509864..60512295,2	K562	blood:
9	chr15:60480511..60484017-chr15:60486940..60489829,4	K562	blood:
10	chr15:60485373..60487217-chr15:60489194..60491532,2	K562	blood:
11	chr15:60504443..60505284-chr15:60618698..60619648,2	MCF-7	breast:
12	chr15:60111001..60111941-chr15:60471729..60472623,3	MCF-7	breast:
13	chr15:60481357..60484017-chr15:60487030..60489025,2	K562	blood:
14	chr15:60509606..60511372-chr15:60511804..60514494,2	K562	blood:
15	chr15:60481357..60484017-chr15:60487030..60489025,2	K562	blood:
16	chr15:60489185..60491331-chr15:60509864..60512295,2	K562	blood:

No data

Extended variants
information (count: 2049 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2049 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371327574	chr15:60465022-60465023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541057082	chr15:60465042-60465043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142681187	chr15:60465125-60465126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185644544	chr15:60465142-60465143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539622751	chr15:60465147-60465148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7180449	chr15:60465154-60465155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146531466	chr15:60465165-60465166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112817546	chr15:60465209-60465210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8040351	chr15:60465213-60465214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs140959572	chr15:60465298-60465299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144788059	chr15:60465299-60465300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35868971	chr15:60465306-60465307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571212381	chr15:60465344-60465345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538518242	chr15:60465346-60465347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550061858	chr15:60465347-60465348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556753973	chr15:60465383-60465384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58286054	chr15:60465393-60465394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138848719	chr15:60465415-60465416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532780898	chr15:60465430-60465431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140511133	chr15:60465456-60465457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552492693	chr15:60465461-60465462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181594157	chr15:60465462-60465463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540631575	chr15:60465522-60465523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558943844	chr15:60465527-60465528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571346762	chr15:60465556-60465557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533856474	chr15:60465565-60465566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150437200	chr15:60465588-60465589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567294216	chr15:60465627-60465628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544883457	chr15:60465667-60465668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186548447	chr15:60465670-60465671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191908446	chr15:60465681-60465682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138139310	chr15:60465688-60465689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58973920	chr15:60465695-60465696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147312698	chr15:60465718-60465719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546211322	chr15:60465735-60465736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183698085	chr15:60465736-60465737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59297074	chr15:60465759-60465760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs377000982	chr15:60465765-60465766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550437860	chr15:60465766-60465767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187563918	chr15:60465767-60465768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190693936	chr15:60465798-60465799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143173011	chr15:60465822-60465823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113644877	chr15:60465842-60465843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112545945	chr15:60465853-60465854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559005013	chr15:60465877-60465878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12902129	chr15:60465897-60465898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538587654	chr15:60465901-60465902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556887965	chr15:60465902-60465903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368153489	chr15:60465912-60465913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372058236	chr15:60465914-60465915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:60463200-60465200	Enhancers	NHEK	skin
2	chr15:60463400-60465200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:60464200-60465200	Enhancers	HMEC	breast
4	chr15:60464200-60467000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:60464400-60465000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:60466800-60467200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr15:60467000-60467200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr15:60467200-60467400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:60471000-60472200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr15:60471600-60472000	Enhancers	Brain Cingulate Gyrus	brain
11	chr15:60475800-60479400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:60476400-60477600	Enhancers	NHEK	skin
13	chr15:60476600-60476800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:60476600-60477000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:60476600-60477000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:60476600-60477200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:60476600-60477200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr15:60476600-60477200	Enhancers	HMEC	breast
19	chr15:60476600-60477400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:60476600-60477600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:60476800-60477000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr15:60476800-60477200	Enhancers	NH-A	brain
23	chr15:60479800-60480200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:60481400-60482200	Enhancers	Psoas Muscle	Psoas
25	chr15:60481600-60481800	Enhancers	Adipose Nuclei	Adipose
26	chr15:60486400-60487200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr15:60487000-60488200	Enhancers	Adipose Nuclei	Adipose
28	chr15:60487800-60488000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:60487800-60488400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:60487800-60488400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:60493400-60496200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr15:60495600-60497000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr15:60495800-60496000	Enhancers	HepG2	liver
34	chr15:60495800-60496200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr15:60495800-60496600	Bivalent Enhancer	Fetal Brain Male	brain
36	chr15:60495800-60497000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr15:60495800-60497200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr15:60495800-60497200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:60496000-60496200	Flanking Active TSS	HepG2	liver
40	chr15:60496000-60496400	Bivalent Enhancer	Brain Hippocampus Middle	brain
41	chr15:60496000-60496400	Bivalent Enhancer	Fetal Brain Female	brain
42	chr15:60496000-60497000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr15:60496000-60497400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr15:60496000-60497400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr15:60496200-60496400	Enhancers	Brain Germinal Matrix	brain
46	chr15:60496200-60496600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:60496200-60496800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:60496200-60497000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr15:60496200-60497400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr15:60496400-60496600	Bivalent Enhancer	Brain Germinal Matrix	brain

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