Variant report

Variant	esv3470512
Chromosome Location	chr5:59949555-59951866
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546116896	chr5:59949571-59949572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13172418	chr5:59949573-59949574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185080704	chr5:59949592-59949593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188353307	chr5:59949673-59949674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528118397	chr5:59949683-59949684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139307251	chr5:59949702-59949703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376037632	chr5:59949704-59949705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113481994	chr5:59949730-59949731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553807684	chr5:59949743-59949744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568021171	chr5:59949790-59949791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192589175	chr5:59949980-59949981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550833924	chr5:59950003-59950004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570580831	chr5:59950098-59950099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184514625	chr5:59950148-59950149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117965103	chr5:59950150-59950151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558664038	chr5:59950167-59950168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543463797	chr5:59950182-59950183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143430540	chr5:59950190-59950191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112216987	chr5:59950193-59950194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79309931	chr5:59950200-59950201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78034872	chr5:59950202-59950203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535860904	chr5:59950214-59950215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561630804	chr5:59950215-59950216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113356381	chr5:59950245-59950246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188105275	chr5:59950383-59950384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112305802	chr5:59950385-59950386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554412277	chr5:59950415-59950416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564783978	chr5:59950439-59950440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578138856	chr5:59950469-59950470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540421507	chr5:59950534-59950535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376193474	chr5:59950618-59950619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528132545	chr5:59950620-59950621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547806974	chr5:59950649-59950650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180878435	chr5:59950695-59950696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185087883	chr5:59950703-59950704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543246763	chr5:59950748-59950749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552945452	chr5:59950795-59950796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570723966	chr5:59950806-59950807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189412571	chr5:59950847-59950848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541018407	chr5:59950852-59950853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150278589	chr5:59950947-59950948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576747474	chr5:59950950-59950951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138890892	chr5:59950961-59950962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559422027	chr5:59950966-59950967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566987089	chr5:59950994-59950995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535924870	chr5:59951029-59951030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182056847	chr5:59951091-59951092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142191264	chr5:59951097-59951098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565423501	chr5:59951103-59951104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146368341	chr5:59951127-59951128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59926400-59967800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:59929400-59954600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:59933400-59965200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:59933600-59981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:59936600-59961400	Weak transcription	Thymus	Thymus
6	chr5:59936800-59961800	Weak transcription	Fetal Thymus	thymus
7	chr5:59940600-59950200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:59942800-59952000	Weak transcription	Dnd41	blood
9	chr5:59942800-59961600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:59943400-59952400	Weak transcription	Placenta	Placenta
11	chr5:59943400-59977000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:59943800-59952600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:59944400-59952400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:59945000-59961800	Weak transcription	HepG2	liver
15	chr5:59946400-59952400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:59948600-59951200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:59951200-59953200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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