Variant report

Variant	nsv822092
Chromosome Location	chr3:52598226-52601851
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	chr3:52599989..52600840-chr6:12011730..12012422,2	Hela-S3	cervix:
2	chr3:52569848..52572166-chr3:52599893..52603784,3	K562	blood:

Variant related genes	Relation type
ENSG00000168273	chromatin interactions
ENSG00000095951	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143617370	chr3:52598241-52598242	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376015260	chr3:52598280-52598281	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74413194	chr3:52598296-52598297	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537303849	chr3:52598301-52598302	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561754073	chr3:52598357-52598358	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1987234	chr3:52598359-52598360	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141946721	chr3:52598382-52598383	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142076748	chr3:52598398-52598399	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533162272	chr3:52598436-52598437	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546548781	chr3:52598474-52598475	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75538846	chr3:52598486-52598487	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13059862	chr3:52598540-52598541	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs529233989	chr3:52598553-52598554	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548993359	chr3:52598554-52598555	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547175703	chr3:52598555-52598556	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13060048	chr3:52598608-52598609	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs71084190	chr3:52598669-52598670	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140237119	chr3:52598785-52598786	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558239284	chr3:52598809-52598810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60832323	chr3:52598817-52598818	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs534427849	chr3:52598940-52598941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376907802	chr3:52598941-52598942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9814016	chr3:52598981-52598982	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114511095	chr3:52598997-52598998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555449300	chr3:52599006-52599007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575288594	chr3:52599011-52599012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150326304	chr3:52599012-52599013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192405250	chr3:52599017-52599018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4687627	chr3:52599069-52599070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148279396	chr3:52599096-52599097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201569193	chr3:52599097-52599098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564213336	chr3:52599172-52599173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183470893	chr3:52599194-52599195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540070596	chr3:52599202-52599203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559992243	chr3:52599210-52599211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544670251	chr3:52599214-52599215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75397107	chr3:52599215-52599216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199520988	chr3:52599226-52599227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13064916	chr3:52599289-52599290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564059154	chr3:52599290-52599291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13064925	chr3:52599307-52599308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187999252	chr3:52599319-52599320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13065085	chr3:52599334-52599335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529193789	chr3:52599341-52599342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13065386	chr3:52599351-52599352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13087798	chr3:52599352-52599353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13065076	chr3:52599357-52599358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13065223	chr3:52599367-52599368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568868833	chr3:52599394-52599395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138918160	chr3:52599395-52599396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52572400-52633000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:52573600-52598400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:52574400-52623800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr3:52574600-52598800	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr3:52574800-52605000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:52576800-52625600	Strong transcription	Fetal Thymus	thymus
7	chr3:52577000-52599000	Strong transcription	Fetal Muscle Leg	muscle
8	chr3:52577200-52599000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:52577600-52598600	Strong transcription	Placenta	Placenta
10	chr3:52577600-52605200	Strong transcription	Dnd41	blood
11	chr3:52578200-52625600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr3:52578400-52598600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:52578400-52600600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:52578800-52598800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr3:52578800-52599600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr3:52578800-52601400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr3:52579000-52598600	Strong transcription	Thymus	Thymus
18	chr3:52579000-52599200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr3:52580400-52598400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr3:52580600-52598400	Strong transcription	Primary T cells from cord blood	blood
21	chr3:52580600-52598600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:52580800-52598800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr3:52581000-52598400	Strong transcription	HUVEC	blood vessel
24	chr3:52581000-52601000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:52583200-52600400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:52583200-52600800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr3:52584200-52598600	Strong transcription	Fetal Lung	lung
28	chr3:52584600-52599000	Strong transcription	Primary hematopoietic stem cells	blood
29	chr3:52585800-52627400	Weak transcription	Fetal Heart	heart
30	chr3:52587000-52602400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:52587200-52719200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:52587600-52599200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:52587800-52598800	Strong transcription	Brain Germinal Matrix	brain
34	chr3:52588000-52598400	Strong transcription	HepG2	liver
35	chr3:52588800-52598600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:52589400-52599000	Strong transcription	Liver	Liver
37	chr3:52589600-52611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:52590600-52598400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:52590800-52598600	Strong transcription	Adipose Nuclei	Adipose
40	chr3:52591000-52598400	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr3:52591000-52598600	Strong transcription	NH-A	brain
42	chr3:52591000-52688000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:52591200-52598600	Strong transcription	HSMMtube	muscle
44	chr3:52591200-52599000	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr3:52591200-52601400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:52591400-52598400	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr3:52591400-52598800	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:52591400-52599200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:52591400-52599200	Strong transcription	Fetal Intestine Large	intestine
50	chr3:52591600-52598800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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