Variant report

Variant	esv3354956
Chromosome Location	chr5:7823152-7827350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:7815132..7817938-chr5:7825115..7826911,2	K562	blood:
2	chr5:7819659..7822148-chr5:7824680..7826554,2	K562	blood:
3	chr5:7826263..7828308-chr5:7856719..7858613,3	K562	blood:
4	chr5:7822314..7823878-chr5:7829046..7830943,2	K562	blood:

Extended variants
information (count: 197 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189117991	chr5:7823170-7823171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193071966	chr5:7823187-7823188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562414576	chr5:7823227-7823228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74971824	chr5:7823273-7823274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564864137	chr5:7823298-7823299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs989632	chr5:7823382-7823383	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs115367398	chr5:7823397-7823398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114898973	chr5:7823421-7823422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183723525	chr5:7823422-7823423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10474820	chr5:7823508-7823509	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371194865	chr5:7823568-7823569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9313204	chr5:7823576-7823577	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs548858075	chr5:7823583-7823584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569064788	chr5:7823587-7823588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186641272	chr5:7823622-7823623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550717965	chr5:7823623-7823624	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10474821	chr5:7823656-7823657	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112540749	chr5:7823672-7823673	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77698697	chr5:7823692-7823693	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191845358	chr5:7823712-7823713	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536094895	chr5:7823721-7823722	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551470786	chr5:7823785-7823786	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73048918	chr5:7823794-7823795	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs16879182	chr5:7823816-7823817	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184019614	chr5:7823847-7823848	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189377595	chr5:7823935-7823936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571102553	chr5:7823937-7823938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566479881	chr5:7823978-7823979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4702502	chr5:7824002-7824003	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs115793389	chr5:7824017-7824018	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560593742	chr5:7824030-7824031	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193174846	chr5:7824088-7824089	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529012462	chr5:7824145-7824146	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149118035	chr5:7824150-7824151	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574950121	chr5:7824165-7824166	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561121376	chr5:7824225-7824226	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142195105	chr5:7824296-7824297	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375357990	chr5:7824332-7824333	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538147132	chr5:7824376-7824377	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151198659	chr5:7824385-7824386	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185025524	chr5:7824390-7824391	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528161796	chr5:7824420-7824421	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs16879186	chr5:7824421-7824422	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs115358687	chr5:7824473-7824474	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs326166	chr5:7824480-7824481	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs555698576	chr5:7824502-7824503	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569469614	chr5:7824505-7824506	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116316247	chr5:7824531-7824532	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116088589	chr5:7824569-7824570	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564487932	chr5:7824585-7824586	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	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
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7803800-7824800	Weak transcription	Aorta	Aorta
2	chr5:7806000-7823600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:7808400-7827000	Weak transcription	Brain Substantia Nigra	brain
4	chr5:7816400-7825200	Weak transcription	Fetal Intestine Small	intestine
5	chr5:7816600-7827000	Weak transcription	Ovary	ovary
6	chr5:7816800-7827400	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:7816800-7828800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:7817000-7826800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:7817000-7828000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:7817200-7823400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:7817200-7825200	Weak transcription	Pancreas	Pancrea
12	chr5:7817200-7826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:7817400-7824800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:7817800-7825200	Weak transcription	Gastric	stomach
15	chr5:7818400-7828200	Weak transcription	Fetal Brain Female	brain
16	chr5:7818800-7823600	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr5:7819200-7823200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:7819200-7829200	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:7820000-7830200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:7820200-7824400	Weak transcription	Fetal Stomach	stomach
21	chr5:7820200-7824800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:7820200-7828400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:7820800-7825000	Weak transcription	Esophagus	oesophagus
24	chr5:7821400-7825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:7821600-7823600	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr5:7821600-7823800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:7822000-7824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:7822000-7825200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:7822000-7828600	Weak transcription	Brain Angular Gyrus	brain
30	chr5:7822000-7829000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:7822200-7826400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:7822200-7827000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:7822200-7828200	Weak transcription	Brain Anterior Caudate	brain
34	chr5:7822400-7824600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr5:7822800-7823400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:7823000-7824400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:7823000-7824600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:7823200-7824600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:7823400-7826400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:7823600-7824600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:7823600-7824800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:7823600-7824800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr5:7823800-7825000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:7824000-7824600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:7824000-7827400	Weak transcription	Brain Germinal Matrix	brain
46	chr5:7824400-7827600	Strong transcription	Fetal Stomach	stomach
47	chr5:7824400-7827800	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr5:7824600-7824800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:7824600-7824800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr5:7824600-7825200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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