Variant report

Variant	esv3530518
Chromosome Location	chr14:22029827-22031677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr14:22031231-22031247	K562	blood:	n/a	n/a

Variant related genes	Relation type
RBBP4P5	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193070831	chr14:22029855-22029856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184154960	chr14:22029867-22029868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531878350	chr14:22029880-22029881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116313232	chr14:22029883-22029884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562354561	chr14:22029904-22029905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11427282	chr14:22029905-22029906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397936625	chr14:22029914-22029915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188356738	chr14:22029916-22029917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145450795	chr14:22029961-22029962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547929610	chr14:22029966-22029967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193193064	chr14:22029973-22029974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541069109	chr14:22029986-22029987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559676025	chr14:22029990-22029991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574712151	chr14:22029997-22029998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570831831	chr14:22030028-22030029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539709900	chr14:22030031-22030032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542525223	chr14:22030036-22030037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113501063	chr14:22030037-22030038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530812366	chr14:22030062-22030063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563788322	chr14:22030066-22030067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568489981	chr14:22030106-22030107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537990879	chr14:22030121-22030122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554357138	chr14:22030136-22030137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78141124	chr14:22030151-22030152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183828421	chr14:22030262-22030263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533754543	chr14:22030297-22030298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76395640	chr14:22030337-22030338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369942191	chr14:22030343-22030344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7148509	chr14:22030366-22030367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs78792106	chr14:22030394-22030395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562900046	chr14:22030404-22030405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148435805	chr14:22030417-22030418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs207474497	chr14:22030446-22030447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542351132	chr14:22030559-22030560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142546786	chr14:22030573-22030574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546672852	chr14:22030574-22030575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541280679	chr14:22030590-22030591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568681219	chr14:22030609-22030610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187096293	chr14:22030616-22030617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373479646	chr14:22030642-22030643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191153222	chr14:22030644-22030645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151303387	chr14:22030666-22030667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531214728	chr14:22030752-22030753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7149223	chr14:22030771-22030772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568087458	chr14:22030808-22030809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61971785	chr14:22030809-22030810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs183583831	chr14:22030810-22030811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189580727	chr14:22030861-22030862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182093074	chr14:22030898-22030899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10134014	chr14:22030910-22030911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Neuroblastoma	19536264	CNVD
Schizophrenia	23813976	CNVD
Ewing''s sarcoma	18628472	CNVD
Ependymoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22018800-22035200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:22026800-22038200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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