Variant report

Variant	nsv178651
Chromosome Location	chr20:13402619-13410123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:13404058..13404784-chr20:13526885..13527481,2	MCF-7	breast:
2	chr20:13408378..13410884-chr20:13417652..13421238,3	MCF-7	breast:
3	chr20:13404043..13405936-chr20:13426667..13428716,2	MCF-7	breast:
4	chr20:13404319..13406427-chr20:13433826..13436433,2	K562	blood:

Extended variants
information (count: 258 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183090885	chr20:13402638-13402639	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147557091	chr20:13402691-13402692	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558027625	chr20:13402706-13402707	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386812665	chr20:13402730-13402731	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143074940	chr20:13402732-13402733	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553720624	chr20:13402742-13402743	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573797931	chr20:13402760-13402761	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542712234	chr20:13402789-13402790	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148209849	chr20:13402817-13402818	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141205443	chr20:13402845-13402846	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576150967	chr20:13402894-13402895	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545312591	chr20:13402912-13402913	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186762882	chr20:13402914-13402915	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192066223	chr20:13402938-13402939	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549922942	chr20:13402989-13402990	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183379282	chr20:13402998-13402999	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145094422	chr20:13403006-13403007	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549602596	chr20:13403034-13403035	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373878371	chr20:13403056-13403057	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369158217	chr20:13403072-13403073	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535452342	chr20:13403087-13403088	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78018853	chr20:13403115-13403116	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73266840	chr20:13403137-13403138	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369850585	chr20:13403145-13403146	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6033702	chr20:13403173-13403174	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs3945993	chr20:13403228-13403229	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188388724	chr20:13403229-13403230	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556358255	chr20:13403250-13403251	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142230212	chr20:13403253-13403254	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563274550	chr20:13403261-13403262	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146401100	chr20:13403265-13403266	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572375321	chr20:13403270-13403271	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541288665	chr20:13403293-13403294	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191713524	chr20:13403309-13403310	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2145140	chr20:13403320-13403321	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs62209014	chr20:13403321-13403322	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543532809	chr20:13403322-13403323	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73901161	chr20:13403353-13403354	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532204598	chr20:13403445-13403446	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557750431	chr20:13403473-13403474	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182380590	chr20:13403556-13403557	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139252002	chr20:13403571-13403572	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186666135	chr20:13403575-13403576	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567675677	chr20:13403633-13403634	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536233686	chr20:13403644-13403645	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75325692	chr20:13403657-13403658	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570077009	chr20:13403682-13403683	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192554957	chr20:13403711-13403712	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370088407	chr20:13403725-13403726	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558796579	chr20:13403727-13403728	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13364400-13415400	Weak transcription	Right Ventricle	heart
2	chr20:13364600-13416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr20:13369000-13411200	Strong transcription	Dnd41	blood
4	chr20:13371400-13413600	Weak transcription	Ovary	ovary
5	chr20:13374200-13417200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr20:13374400-13410800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr20:13374600-13405800	Weak transcription	Fetal Stomach	stomach
8	chr20:13379000-13410200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr20:13379200-13463000	Weak transcription	HSMM	muscle
10	chr20:13390800-13403000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr20:13391200-13403400	Weak transcription	Fetal Kidney	kidney
12	chr20:13392600-13421400	Weak transcription	Psoas Muscle	Psoas
13	chr20:13392800-13415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr20:13393800-13411000	Weak transcription	Pancreas	Pancrea
15	chr20:13393800-13416800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr20:13394000-13403000	Weak transcription	HMEC	breast
17	chr20:13394000-13415600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr20:13394200-13406800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr20:13394200-13416800	Weak transcription	Esophagus	oesophagus
20	chr20:13394200-13417200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr20:13395000-13415000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr20:13395400-13411000	Weak transcription	Spleen	Spleen
23	chr20:13395600-13416800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr20:13395600-13477800	Weak transcription	Gastric	stomach
25	chr20:13396000-13410600	Weak transcription	GM12878-XiMat	blood
26	chr20:13396000-13415000	Weak transcription	Brain Hippocampus Middle	brain
27	chr20:13396000-13417000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr20:13397400-13421200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr20:13397600-13410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr20:13397800-13405400	Weak transcription	Fetal Lung	lung
31	chr20:13397800-13414400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr20:13397800-13415000	Weak transcription	Adipose Nuclei	Adipose
33	chr20:13398000-13403200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr20:13398000-13407400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr20:13398000-13410800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr20:13398000-13411000	Weak transcription	Primary B cells from cord blood	blood
37	chr20:13398200-13403000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr20:13398200-13403000	Weak transcription	NHEK	skin
39	chr20:13398200-13403600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr20:13398200-13404600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr20:13398200-13405400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr20:13398200-13406000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr20:13398200-13406000	Weak transcription	Fetal Muscle Leg	muscle
44	chr20:13398200-13406000	Weak transcription	Left Ventricle	heart
45	chr20:13398200-13409600	Weak transcription	Fetal Thymus	thymus
46	chr20:13398200-13410000	Weak transcription	Primary T cells from cord blood	blood
47	chr20:13398200-13410200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr20:13398200-13410200	Weak transcription	Thymus	Thymus
49	chr20:13398200-13410800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr20:13398200-13411000	Weak transcription	Lung	lung

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