Variant report

Variant	esv3414655
Chromosome Location	chr11:5200404-5200846
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	chr11:5191942..5195830-chr11:5198178..5202032,4	K562	blood:
2	chr11:5192167..5196032-chr11:5198178..5201494,6	K562	blood:

Variant related genes	Relation type
ENSG00000176752	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10837508	chr11:5200415-5200416	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112629846	chr11:5200425-5200426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186214901	chr11:5200433-5200434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371360861	chr11:5200495-5200496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10768638	chr11:5200525-5200526	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549298548	chr11:5200564-5200565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs151052088	chr11:5200589-5200590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373831998	chr11:5200593-5200594	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10768640	chr11:5200611-5200612	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556834150	chr11:5200616-5200617	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs578214042	chr11:5200632-5200633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs10837513	chr11:5200640-5200641	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs80317924	chr11:5200645-5200646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572563713	chr11:5200659-5200660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549038896	chr11:5200683-5200684	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543153688	chr11:5200684-5200685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs56179560	chr11:5200688-5200689	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182515546	chr11:5200702-5200703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372588938	chr11:5200726-5200727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576206843	chr11:5200748-5200749	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7114182	chr11:5200772-5200773	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532749123	chr11:5200781-5200782	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs71472166	chr11:5200813-5200814	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4910728	chr11:5200814-5200815	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568520408	chr11:5200846-5200847	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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