Variant report

Variant	nsv1524
Chromosome Location	chr15:46030486-46061021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:46059092..46061419-chr15:46070434..46072808,2	K562	blood:

Extended variants
information (count: 490 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536954571	chr15:46030504-46030505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532710082	chr15:46030526-46030527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373242206	chr15:46030531-46030532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144300222	chr15:46030536-46030537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545624518	chr15:46030598-46030599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539126590	chr15:46030720-46030721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146474313	chr15:46030731-46030732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575721626	chr15:46030747-46030748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544274755	chr15:46030806-46030807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190622837	chr15:46030828-46030829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529998149	chr15:46030837-46030838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540228908	chr15:46030869-46030870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115699937	chr15:46030878-46030879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72717193	chr15:46030904-46030905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142190990	chr15:46030953-46030954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55634197	chr15:46031005-46031006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531451086	chr15:46031009-46031010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192982906	chr15:46031045-46031046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs620445	chr15:46031054-46031055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569193807	chr15:46031060-46031061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369492797	chr15:46031162-46031163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547408569	chr15:46031165-46031166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567188523	chr15:46031181-46031182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538942867	chr15:46031222-46031223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373368816	chr15:46031244-46031245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575717294	chr15:46031278-46031279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537961125	chr15:46031285-46031286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576362030	chr15:46031311-46031312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185217098	chr15:46031322-46031323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188652445	chr15:46031330-46031331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540263799	chr15:46031341-46031342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61545926	chr15:46031343-46031344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560262818	chr15:46031373-46031374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562170502	chr15:46031488-46031489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565518802	chr15:46031556-46031557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576815236	chr15:46031574-46031575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530453256	chr15:46031590-46031591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200712775	chr15:46031643-46031644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552145677	chr15:46031711-46031712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370759972	chr15:46031723-46031724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545745201	chr15:46031733-46031734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140409716	chr15:46031806-46031807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531485801	chr15:46031877-46031878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181096439	chr15:46031879-46031880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185143620	chr15:46031918-46031919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527367228	chr15:46031920-46031921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570492076	chr15:46031994-46031995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117298073	chr15:46032042-46032043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570324572	chr15:46032046-46032047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531319116	chr15:46032062-46032063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:46026600-46035200	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:46029600-46035400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:46034400-46035800	Enhancers	Fetal Brain Female	brain
4	chr15:46035000-46035600	Bivalent Enhancer	Adipose Nuclei	Adipose
5	chr15:46035000-46036600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr15:46035000-46037000	Enhancers	Rectal Smooth Muscle	rectum
7	chr15:46035000-46040200	Enhancers	Fetal Brain Male	brain
8	chr15:46035200-46035400	Enhancers	Right Atrium	heart
9	chr15:46035200-46035600	Enhancers	Colon Smooth Muscle	Colon
10	chr15:46035200-46036200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr15:46035200-46036400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr15:46035400-46035600	Enhancers	Brain Germinal Matrix	brain
13	chr15:46035400-46036000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr15:46035400-46036000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr15:46035400-46036000	Enhancers	Fetal Stomach	stomach
16	chr15:46035400-46036200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:46035400-46036200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr15:46035400-46036400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr15:46035400-46036400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr15:46035400-46036600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr15:46035600-46035800	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr15:46035600-46036000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:46035600-46036000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:46035600-46036000	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr15:46035600-46036200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
26	chr15:46035600-46036200	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr15:46035600-46036200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
28	chr15:46035600-46036400	Active TSS	Stomach Smooth Muscle	stomach
29	chr15:46035800-46036200	Active TSS	Brain Anterior Caudate	brain
30	chr15:46035800-46036200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr15:46035800-46036400	Enhancers	Brain Cingulate Gyrus	brain
32	chr15:46035800-46036400	Active TSS	Brain Substantia Nigra	brain
33	chr15:46035800-46036400	Active TSS	Colon Smooth Muscle	Colon
34	chr15:46035800-46036600	Flanking Active TSS	Fetal Brain Female	brain
35	chr15:46035800-46036600	Enhancers	Fetal Kidney	kidney
36	chr15:46036000-46036200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
37	chr15:46036200-46038000	Enhancers	Brain Germinal Matrix	brain
38	chr15:46036400-46036600	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr15:46036600-46037000	Enhancers	Colon Smooth Muscle	Colon
40	chr15:46036600-46037400	Enhancers	Fetal Brain Female	brain
41	chr15:46039200-46040000	Enhancers	Rectal Smooth Muscle	rectum
42	chr15:46039200-46040200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:46039400-46040200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:46039400-46040200	Enhancers	HMEC	breast
45	chr15:46039400-46040200	Enhancers	NHEK	skin
46	chr15:46051800-46052600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr15:46051800-46053000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:46052200-46052400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr15:46052600-46053800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr15:46053600-46054000	Active TSS	Gastric	stomach

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