Variant report

Variant	nsv912792
Chromosome Location	chr20:15724399-15749292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:15725311..15727779-chr20:15728429..15730816,2	K562	blood:
2	chr20:15719119..15720725-chr20:15723805..15725405,2	MCF-7	breast:
3	chr20:15725311..15727779-chr20:15728429..15730816,2	K562	blood:

Extended variants
information (count: 839 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:839 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17625810	chr20:15724399-15724400	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374540761	chr20:15724435-15724436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535340997	chr20:15724448-15724449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111747242	chr20:15724467-15724468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562686940	chr20:15724524-15724525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553563390	chr20:15724533-15724534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12625785	chr20:15724544-15724545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571827840	chr20:15724581-15724582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539134726	chr20:15724623-15724624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62194112	chr20:15724641-15724642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs117332400	chr20:15724648-15724649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148389850	chr20:15724754-15724755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181232101	chr20:15724761-15724762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77696303	chr20:15724762-15724763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78555744	chr20:15724763-15724764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111371116	chr20:15724794-15724795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143376831	chr20:15724980-15724981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6131693	chr20:15725018-15725019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540940372	chr20:15725058-15725059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559252576	chr20:15725083-15725084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527351628	chr20:15725090-15725091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533180398	chr20:15725111-15725112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114348951	chr20:15725115-15725116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552037991	chr20:15725131-15725132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563844889	chr20:15725181-15725182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6043502	chr20:15725233-15725234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs372775810	chr20:15725253-15725254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375068600	chr20:15725257-15725258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527514638	chr20:15725294-15725295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139059582	chr20:15725311-15725312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34951202	chr20:15725337-15725338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374543490	chr20:15725339-15725340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3221106	chr20:15725340-15725341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75578017	chr20:15725349-15725350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34623512	chr20:15725350-15725351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185329821	chr20:15725364-15725365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370110876	chr20:15725368-15725369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2050221	chr20:15725370-15725371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2050222	chr20:15725371-15725372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11467530	chr20:15725377-15725378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56147508	chr20:15725381-15725382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114733739	chr20:15725442-15725443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147485549	chr20:15725453-15725454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534518365	chr20:15725458-15725459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377454971	chr20:15725459-15725460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114605248	chr20:15725472-15725473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12481600	chr20:15725473-15725474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539256898	chr20:15725550-15725551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12481609	chr20:15725564-15725565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569361960	chr20:15725566-15725567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15723400-15729800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:15723800-15731000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:15724200-15724400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:15727600-15728200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr20:15735600-15737600	Enhancers	Fetal Brain Male	brain
6	chr20:15735800-15737200	Enhancers	Brain Germinal Matrix	brain
7	chr20:15736000-15736600	Enhancers	Brain Hippocampus Middle	brain
8	chr20:15736200-15736600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr20:15736400-15736600	Enhancers	Brain Substantia Nigra	brain
10	chr20:15736400-15737400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr20:15736400-15737600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr20:15736600-15736800	Enhancers	Brain Angular Gyrus	brain
13	chr20:15736600-15736800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr20:15736600-15736800	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr20:15736600-15737000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr20:15736600-15737200	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr20:15736600-15737400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr20:15736600-15737600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr20:15736600-15737800	Active TSS	Fetal Brain Female	brain
20	chr20:15736600-15738400	Enhancers	Primary B cells from peripheral blood	blood
21	chr20:15736800-15737000	Enhancers	Brain Substantia Nigra	brain
22	chr20:15736800-15737200	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr20:15736800-15737200	Active TSS	Brain Anterior Caudate	brain
24	chr20:15736800-15737600	Enhancers	Brain Cingulate Gyrus	brain
25	chr20:15736800-15740800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr20:15737000-15737400	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr20:15737000-15740400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr20:15737200-15737400	Enhancers	Brain Angular Gyrus	brain
29	chr20:15737200-15737400	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr20:15737200-15737800	Enhancers	Brain Hippocampus Middle	brain
31	chr20:15737200-15738200	Weak transcription	Brain Germinal Matrix	brain
32	chr20:15737400-15737600	Enhancers	Brain Substantia Nigra	brain
33	chr20:15737400-15737800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr20:15737400-15740000	Weak transcription	Brain Angular Gyrus	brain
35	chr20:15737400-15740200	Weak transcription	Brain Anterior Caudate	brain
36	chr20:15737400-15740400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr20:15737600-15737800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr20:15737600-15740000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr20:15737600-15740200	Weak transcription	Brain Substantia Nigra	brain
40	chr20:15737800-15740000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr20:15737800-15740200	Weak transcription	Brain Hippocampus Middle	brain
42	chr20:15737800-15740200	Weak transcription	Fetal Brain Female	brain
43	chr20:15738200-15738600	Enhancers	Brain Germinal Matrix	brain
44	chr20:15738600-15740000	Weak transcription	Brain Germinal Matrix	brain
45	chr20:15739400-15739800	Enhancers	Fetal Muscle Leg	muscle
46	chr20:15739600-15741600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr20:15739800-15740200	Weak transcription	Fetal Muscle Leg	muscle
48	chr20:15740000-15740200	Enhancers	Brain Cingulate Gyrus	brain
49	chr20:15740000-15740200	Enhancers	Stomach Smooth Muscle	stomach
50	chr20:15740000-15740400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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