Variant report

Variant	nsv592428
Chromosome Location	chr3:163661532-163671071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:163660440..163662829-chr3:163666000..163668542,2	K562	blood:
2	chr3:163664276..163666199-chr3:163667456..163669439,2	MCF-7	breast:
3	chr3:163219408..163221189-chr3:163663438..163665910,2	K562	blood:
4	chr3:163664276..163666199-chr3:163667456..163669439,2	MCF-7	breast:
5	chr3:163660440..163662829-chr3:163666000..163668542,2	K562	blood:
6	chr3:163669046..163669790-chr3:164903266..164903861,2	MCF-7	breast:
7	chr3:163639924..163641654-chr3:163663861..163665823,2	MCF-7	breast:
8	chr3:163634067..163635345-chr3:163668973..163669822,4	MCF-7	breast:
9	chr3:163497409..163497997-chr3:163668939..163669921,2	MCF-7	breast:

No data

Extended variants
information (count: 16 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574219170	chr3:163670448-163670449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184283632	chr3:163670510-163670511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80013016	chr3:163670527-163670528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141609789	chr3:163670811-163670812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534881267	chr3:163670813-163670814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7627722	chr3:163670869-163670870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs578197422	chr3:163670887-163670888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574461898	chr3:163670891-163670892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543470488	chr3:163670935-163670936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369518729	chr3:163670953-163670954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145365200	chr3:163670965-163670966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532505181	chr3:163670998-163670999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374782242	chr3:163671015-163671016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552687568	chr3:163671032-163671033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559977494	chr3:163671037-163671038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9829001	chr3:163671071-163671072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163670400-163670600	Enhancers	Pancreas	Pancrea
2	chr3:163670800-163671200	Weak transcription	Pancreas	Pancrea

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