Variant report

Variant	nsv520641
Chromosome Location	chr14:21631328-21632431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11851396	chr14:21631328-21631329	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146058382	chr14:21631348-21631349	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189691514	chr14:21631385-21631386	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10149869	chr14:21631426-21631427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182265375	chr14:21631433-21631434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111982884	chr14:21631440-21631441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547549533	chr14:21631443-21631444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10149170	chr14:21631457-21631458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10141250	chr14:21631498-21631499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556864811	chr14:21631499-21631500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185498176	chr14:21631535-21631536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191892123	chr14:21631536-21631537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143598601	chr14:21631542-21631543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10138782	chr14:21631557-21631558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200578011	chr14:21631584-21631585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540345904	chr14:21631609-21631610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145738131	chr14:21631619-21631620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184184336	chr14:21631620-21631621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188235562	chr14:21631625-21631626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562761240	chr14:21631638-21631639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531509689	chr14:21631642-21631643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541789957	chr14:21631643-21631644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561759728	chr14:21631644-21631645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193175231	chr14:21631645-21631646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10138887	chr14:21631651-21631652	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs148961567	chr14:21631663-21631664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565753485	chr14:21631673-21631674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142599672	chr14:21631676-21631677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570284893	chr14:21631677-21631678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536281202	chr14:21631689-21631690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536178379	chr14:21631699-21631700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548175138	chr14:21631701-21631702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568098858	chr14:21631703-21631704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78474745	chr14:21631777-21631778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553872129	chr14:21631779-21631780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73573848	chr14:21631788-21631789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111893914	chr14:21631791-21631792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570292536	chr14:21631792-21631793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541754814	chr14:21631802-21631803	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs376500224	chr14:21631838-21631839	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs72673074	chr14:21631851-21631852	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs116016270	chr14:21631860-21631861	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs541120202	chr14:21631869-21631870	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs564566456	chr14:21631881-21631882	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs549767534	chr14:21631895-21631896	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs533272071	chr14:21631905-21631906	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs11852150	chr14:21631923-21631924	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs74037726	chr14:21631926-21631927	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs182777756	chr14:21631939-21631940	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs376835090	chr14:21631941-21631942	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
Schizophrenia	20967226	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Neuroblastoma	19536264	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21631000-21631800	Enhancers	Fetal Lung	lung
2	chr14:21631200-21631400	Bivalent Enhancer	Fetal Kidney	kidney
3	chr14:21631400-21632200	Enhancers	Fetal Kidney	kidney
4	chr14:21631600-21632200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr14:21631800-21632200	Flanking Active TSS	Fetal Lung	lung
6	chr14:21632200-21632600	Enhancers	Fetal Lung	lung

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