Variant report

Variant	esv3343881
Chromosome Location	chr5:9597590-9598727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:9593037..9596912-chr5:9597409..9600485,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547821560	chr5:9597631-9597632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13359458	chr5:9597659-9597660	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536414632	chr5:9597665-9597666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556412122	chr5:9597686-9597687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185869192	chr5:9597688-9597689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189846402	chr5:9597725-9597726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558267311	chr5:9597732-9597733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182320548	chr5:9597826-9597827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143696036	chr5:9597839-9597840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554615820	chr5:9597900-9597901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs60926143	chr5:9597905-9597906	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542790816	chr5:9597950-9597951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151038044	chr5:9597994-9597995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200864636	chr5:9597998-9597999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6870771	chr5:9598097-9598098	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs545339282	chr5:9598107-9598108	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376546451	chr5:9598123-9598124	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs565440997	chr5:9598170-9598171	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs151044316	chr5:9598187-9598188	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs547488282	chr5:9598218-9598219	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561402159	chr5:9598219-9598220	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114995561	chr5:9598315-9598316	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140927385	chr5:9598358-9598359	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73740694	chr5:9598368-9598369	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186315991	chr5:9598379-9598380	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6897403	chr5:9598383-9598384	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs565852711	chr5:9598391-9598392	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372793001	chr5:9598416-9598417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534584502	chr5:9598466-9598467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150281938	chr5:9598475-9598476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574179157	chr5:9598489-9598490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191112504	chr5:9598505-9598506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139014717	chr5:9598525-9598526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs194086	chr5:9598537-9598538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs373379982	chr5:9598550-9598551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561614044	chr5:9598562-9598563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183999067	chr5:9598601-9598602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565536977	chr5:9598632-9598633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572669884	chr5:9598648-9598649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541390834	chr5:9598667-9598668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561169354	chr5:9598675-9598676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	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
T-cell prolymphocytic leukemia	17713554	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Lung adenocarcinoma	17982442	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9595000-9598200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:9595400-9598200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:9595600-9598000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:9595600-9598000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:9596000-9597600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:9596200-9597800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:9596800-9597800	Enhancers	Esophagus	oesophagus
8	chr5:9597000-9598000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:9597200-9599000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:9597200-9599600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:9597200-9599800	Enhancers	Duodenum Mucosa	Duodenum
12	chr5:9597200-9601400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:9597200-9601600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:9597400-9598800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:9597400-9600200	Weak transcription	Brain Germinal Matrix	brain
16	chr5:9598000-9598200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr5:9598000-9598400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:9598000-9599200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:9598200-9599000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr5:9598200-9599400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:9598200-9600000	Enhancers	Stomach Mucosa	stomach
22	chr5:9598400-9598800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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