Variant report

Variant	esv3450470
Chromosome Location	chr5:80036140-80036550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6151744	chr5:80036161-80036162	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201534146	chr5:80036180-80036181	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77848706	chr5:80036181-80036182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563053963	chr5:80036182-80036183	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547807698	chr5:80036200-80036201	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140050087	chr5:80036219-80036220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533081639	chr5:80036259-80036260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556565687	chr5:80036269-80036270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569522942	chr5:80036270-80036271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373445579	chr5:80036321-80036322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145172800	chr5:80036329-80036330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147587522	chr5:80036338-80036339	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191345788	chr5:80036342-80036343	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374162375	chr5:80036374-80036375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577583729	chr5:80036379-80036380	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370762531	chr5:80036389-80036390	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568746032	chr5:80036411-80036412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183923797	chr5:80036414-80036415	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112402752	chr5:80036415-80036416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542453427	chr5:80036420-80036421	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537166547	chr5:80036432-80036433	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368420631	chr5:80036451-80036452	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555566375	chr5:80036459-80036460	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs26268	chr5:80036469-80036470	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs541039858	chr5:80036475-80036476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564155948	chr5:80036478-80036479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189426583	chr5:80036479-80036480	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372713027	chr5:80036499-80036500	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113578126	chr5:80036500-80036501	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533018858	chr5:80036516-80036517	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34246815	chr5:80036532-80036533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533384887	chr5:80036533-80036534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139017294	chr5:80036548-80036549	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374251664	chr5:80036550-80036551	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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79963600-80038600	Weak transcription	Right Ventricle	heart
2	chr5:79964800-80057800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:79971800-80112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:79972400-80037000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:79985000-80100600	Weak transcription	Brain Germinal Matrix	brain
6	chr5:79998600-80051000	Weak transcription	Fetal Brain Male	brain
7	chr5:79998800-80109400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:80000200-80038600	Weak transcription	Esophagus	oesophagus
9	chr5:80000400-80036800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:80000400-80036800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:80004000-80050400	Weak transcription	NHDF-Ad	bronchial
12	chr5:80009800-80039000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:80010600-80036800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:80016000-80038400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:80016000-80040600	Weak transcription	Small Intestine	intestine
16	chr5:80016200-80040600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:80016200-80040600	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:80016200-80043600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:80016400-80038200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:80016400-80050800	Weak transcription	Psoas Muscle	Psoas
21	chr5:80020200-80043600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:80022200-80040000	Weak transcription	K562	blood
23	chr5:80022800-80038000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:80022800-80038600	Weak transcription	Colonic Mucosa	Colon
25	chr5:80022800-80040600	Weak transcription	Spleen	Spleen
26	chr5:80022800-80041400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:80022800-80051200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:80023000-80036800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:80023000-80038000	Weak transcription	Left Ventricle	heart
30	chr5:80023000-80038400	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:80023000-80038600	Weak transcription	Ovary	ovary
32	chr5:80023000-80038800	Weak transcription	Lung	lung
33	chr5:80023000-80040600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:80023000-80040600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:80023000-80040600	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:80023000-80040600	Weak transcription	HUVEC	blood vessel
37	chr5:80023000-80041400	Weak transcription	Fetal Brain Female	brain
38	chr5:80023000-80043000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:80023000-80043200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:80023400-80038600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:80023600-80038800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:80023800-80037000	Weak transcription	Fetal Thymus	thymus
43	chr5:80024000-80038600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:80024000-80041400	Weak transcription	NH-A	brain
45	chr5:80024200-80036600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:80024200-80036600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:80024200-80038400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr5:80024200-80038400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:80024200-80038600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:80024200-80038600	Weak transcription	Fetal Kidney	kidney

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