Variant report

Variant	nsv1020604
Chromosome Location	chr5:117967034-117994342
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	chr5:117989069..117990852-chr5:117992183..117994675,2	K562	blood:
2	chr5:117989069..117990852-chr5:117992183..117994675,2	K562	blood:

Extended variants
information (count: 552 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73238271	chr5:117967035-117967036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112488879	chr5:117967049-117967050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567534818	chr5:117967060-117967061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs118007957	chr5:117967093-117967094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186812011	chr5:117967102-117967103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569912667	chr5:117967138-117967139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576842191	chr5:117967199-117967200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372397933	chr5:117967206-117967207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537555733	chr5:117967229-117967230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189996964	chr5:117967252-117967253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7716951	chr5:117967295-117967296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4895148	chr5:117967296-117967297	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561032083	chr5:117967297-117967298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574710191	chr5:117967322-117967323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148927722	chr5:117967345-117967346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562828755	chr5:117967350-117967351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534795314	chr5:117967361-117967362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181334530	chr5:117967365-117967366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117917539	chr5:117967370-117967371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565289134	chr5:117967426-117967427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527942889	chr5:117967445-117967446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4895236	chr5:117967472-117967473	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143675616	chr5:117967481-117967482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545928740	chr5:117967505-117967506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7717392	chr5:117967517-117967518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562133046	chr5:117967547-117967548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541241578	chr5:117973212-117973213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550340124	chr5:117973234-117973235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376040710	chr5:117973249-117973250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546478512	chr5:117973267-117973268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116394280	chr5:117973298-117973299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146212084	chr5:117973320-117973321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183556314	chr5:117973329-117973330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548432794	chr5:117973358-117973359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528466875	chr5:117973361-117973362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568275387	chr5:117973363-117973364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111785129	chr5:117973379-117973380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552747850	chr5:117973402-117973403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187593895	chr5:117973435-117973436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576472917	chr5:117973522-117973523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139242875	chr5:117973555-117973556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6871124	chr5:117973576-117973577	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531652228	chr5:117973577-117973578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149398425	chr5:117973609-117973610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561586069	chr5:117973687-117973688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575034831	chr5:117973695-117973696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543992126	chr5:117973703-117973704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563767784	chr5:117973717-117973718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1115912	chr5:117973737-117973738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552327582	chr5:117973744-117973745	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117967000-117967600	Enhancers	Stomach Mucosa	stomach
2	chr5:117973200-117974400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:117973400-117975000	Enhancers	Stomach Mucosa	stomach
4	chr5:117973800-117974200	Enhancers	Pancreas	Pancrea
5	chr5:117973800-117974600	Active TSS	Duodenum Mucosa	Duodenum
6	chr5:117973800-117974800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr5:117974400-117974800	Enhancers	Gastric	stomach
8	chr5:117980800-117981000	Enhancers	Duodenum Mucosa	Duodenum
9	chr5:117981000-117983000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:117982600-117982800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:117982600-117983000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:117982800-117983200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:117982800-117983600	Enhancers	Lung	lung
14	chr5:117982800-117984400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:117982800-117985200	Enhancers	Fetal Intestine Large	intestine
16	chr5:117983000-117983600	Enhancers	Fetal Intestine Small	intestine
17	chr5:117983000-117983800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:117983000-117984000	Enhancers	Duodenum Mucosa	Duodenum
19	chr5:117983200-117985400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:117983400-117984200	Enhancers	Stomach Mucosa	stomach
21	chr5:117983400-117984400	Enhancers	Fetal Lung	lung
22	chr5:117983400-117985800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:117984200-117985600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:117984200-117985600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:117984200-117989000	Weak transcription	Stomach Mucosa	stomach
26	chr5:117984400-117988600	Weak transcription	Fetal Lung	lung
27	chr5:117984600-117985600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:117985400-117986000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:117986400-117987200	Enhancers	Small Intestine	intestine
30	chr5:117987000-117987600	Enhancers	Liver	Liver
31	chr5:117988400-117990400	Enhancers	Ovary	ovary
32	chr5:117988600-117988800	Enhancers	Pancreas	Pancrea
33	chr5:117988600-117990000	Enhancers	Fetal Lung	lung
34	chr5:117988800-117989600	Enhancers	Fetal Muscle Leg	muscle
35	chr5:117989000-117989400	Enhancers	Stomach Mucosa	stomach
36	chr5:117989200-117990000	Enhancers	Fetal Stomach	stomach
37	chr5:117989400-117989600	Enhancers	Pancreas	Pancrea
38	chr5:117989800-117990000	Enhancers	Stomach Smooth Muscle	stomach
39	chr5:117993000-117993600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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