Variant report

Variant	nsv1025799
Chromosome Location	chr5:80436584-80485252
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:80483229..80485055-chr5:80499314..80501260,2	K562	blood:
2	chr5:80469723..80471566-chr5:80472686..80474521,2	K562	blood:
3	chr5:80378786..80381593-chr5:80468585..80470537,2	K562	blood:
4	chr5:80478508..80480756-chr5:80481685..80483734,2	MCF-7	breast:
5	chr5:80007480..80007996-chr5:80461308..80462094,2	MCF-7	breast:
6	chr5:80462001..80463962-chr5:80467692..80470205,2	MCF-7	breast:
7	chr5:80459044..80462023-chr5:80468394..80471228,2	MCF-7	breast:
8	chr5:80459044..80462023-chr5:80468394..80471228,2	MCF-7	breast:
9	chr5:79949930..79952332-chr5:80460932..80462484,2	MCF-7	breast:
10	chr5:80475399..80478769-chr5:80481164..80483786,3	K562	blood:
11	chr5:80469723..80471566-chr5:80472686..80474521,2	K562	blood:
12	chr5:80007487..80008367-chr5:80461055..80461994,8	MCF-7	breast:
13	chr17:81019623..81021870-chr5:80472992..80475234,2	MCF-7	breast:
14	chr5:80403993..80404836-chr5:80461066..80461682,2	MCF-7	breast:
15	chr5:80462001..80463962-chr5:80467692..80470205,2	MCF-7	breast:
16	chr5:80475399..80478769-chr5:80481164..80483786,3	K562	blood:
17	chr5:80370339..80371281-chr5:80461086..80461962,2	MCF-7	breast:
18	chr5:80478508..80480756-chr5:80481685..80483734,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000113318	chromatin interactions
ENSG00000228716	chromatin interactions

Extended variants
information (count: 1732 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1732 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs248989	chr5:80436584-80436585	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562181954	chr5:80436599-80436600	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs559139690	chr5:80436696-80436697	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs190182102	chr5:80436732-80436733	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs11448247	chr5:80436809-80436810	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397935773	chr5:80436820-80436821	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73768014	chr5:80436838-80436839	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570092564	chr5:80436865-80436866	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529184477	chr5:80436884-80436885	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544604926	chr5:80436980-80436981	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549336343	chr5:80437043-80437044	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563216477	chr5:80437050-80437051	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565861307	chr5:80437059-80437060	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371400018	chr5:80437113-80437114	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115528879	chr5:80437116-80437117	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551564326	chr5:80437128-80437129	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114372987	chr5:80437135-80437136	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536773811	chr5:80437174-80437175	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556517948	chr5:80437190-80437191	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563312752	chr5:80437225-80437226	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17213955	chr5:80437241-80437242	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs555833272	chr5:80437247-80437248	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572707029	chr5:80437256-80437257	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs248988	chr5:80437279-80437280	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs34207428	chr5:80437286-80437287	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs181842216	chr5:80437331-80437332	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543965302	chr5:80437332-80437333	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113085381	chr5:80437353-80437354	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550824918	chr5:80437377-80437378	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529350436	chr5:80437392-80437393	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147601460	chr5:80437395-80437396	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559347289	chr5:80437406-80437407	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528405286	chr5:80437456-80437457	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142056608	chr5:80437478-80437479	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34992475	chr5:80437525-80437526	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571449755	chr5:80437575-80437576	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185956472	chr5:80437592-80437593	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145829948	chr5:80437652-80437653	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566919425	chr5:80437698-80437699	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574476886	chr5:80437705-80437706	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567329023	chr5:80437710-80437711	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552948781	chr5:80437778-80437779	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572622580	chr5:80437850-80437851	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535353810	chr5:80437861-80437862	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558052709	chr5:80437923-80437924	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536197674	chr5:80438036-80438037	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34122	chr5:80438056-80438057	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs573245992	chr5:80438106-80438107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534851401	chr5:80438119-80438120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574189047	chr5:80438123-80438124	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80410600-80446600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:80414200-80438000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:80418400-80443800	Weak transcription	Brain Angular Gyrus	brain
4	chr5:80419400-80438200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr5:80421800-80443600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:80422000-80443400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:80423000-80451400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:80423400-80443800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:80424400-80443800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:80424400-80445000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:80426400-80443800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:80429200-80443800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:80431600-80438800	Strong transcription	Primary T cells from cord blood	blood
14	chr5:80432800-80443800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:80434000-80436600	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:80434400-80436800	Strong transcription	HepG2	liver
17	chr5:80434600-80442200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:80435800-80436800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:80435800-80437400	Enhancers	Brain Substantia Nigra	brain
20	chr5:80435800-80438800	Enhancers	Fetal Muscle Leg	muscle
21	chr5:80436000-80438000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:80436200-80436600	Enhancers	Fetal Brain Female	brain
23	chr5:80436200-80436600	Enhancers	Dnd41	blood
24	chr5:80436200-80436800	Enhancers	Aorta	Aorta
25	chr5:80436200-80436800	Enhancers	Fetal Muscle Trunk	muscle
26	chr5:80436200-80436800	Enhancers	Lung	lung
27	chr5:80436200-80436800	Enhancers	Stomach Smooth Muscle	stomach
28	chr5:80436200-80437000	Enhancers	Fetal Brain Male	brain
29	chr5:80436200-80437200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:80436200-80437200	Enhancers	Fetal Kidney	kidney
31	chr5:80436200-80437200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr5:80436200-80437400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:80436200-80437400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:80436200-80437400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:80436200-80437400	Enhancers	Colon Smooth Muscle	Colon
36	chr5:80436200-80437400	Enhancers	Ovary	ovary
37	chr5:80436200-80437400	Enhancers	NHLF	lung
38	chr5:80436200-80437800	Enhancers	Brain Germinal Matrix	brain
39	chr5:80436200-80438200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr5:80436200-80438600	Enhancers	Brain Hippocampus Middle	brain
41	chr5:80436200-80438800	Enhancers	Fetal Stomach	stomach
42	chr5:80436200-80442800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:80436400-80436800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:80436400-80436800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr5:80436400-80436800	Flanking Active TSS	Fetal Lung	lung
46	chr5:80436400-80436800	Enhancers	Left Ventricle	heart
47	chr5:80436400-80436800	Enhancers	Psoas Muscle	Psoas
48	chr5:80436400-80436800	Enhancers	Right Atrium	heart
49	chr5:80436400-80437000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:80436400-80437000	Enhancers	NHDF-Ad	bronchial

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