Variant report

Variant	esv3366040
Chromosome Location	chr17:50854303-50856901
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	chr17:50845542..50847154-chr17:50852610..50855460,2	K562	blood:
2	chr17:50856723..50858529-chr17:50862236..50864571,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573486077	chr17:50854382-50854383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4635383	chr17:50854419-50854420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185913452	chr17:50854430-50854431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190934441	chr17:50854470-50854471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562078754	chr17:50854528-50854529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7226032	chr17:50854564-50854565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116224984	chr17:50854572-50854573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367823068	chr17:50854584-50854585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7225600	chr17:50854658-50854659	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533264674	chr17:50854710-50854711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546778974	chr17:50854748-50854749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34531676	chr17:50854750-50854751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141524431	chr17:50854765-50854766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146354750	chr17:50854815-50854816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181333042	chr17:50854862-50854863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145494184	chr17:50854897-50854898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202191230	chr17:50854898-50854899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78276990	chr17:50854899-50854900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72525907	chr17:50854910-50854911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75101298	chr17:50854911-50854912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548775804	chr17:50854931-50854932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568589751	chr17:50854951-50854952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551177700	chr17:50854958-50854959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569403815	chr17:50854966-50854967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376132090	chr17:50854982-50854983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185804581	chr17:50854991-50854992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533457530	chr17:50855089-50855090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570854548	chr17:50855111-50855112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539696700	chr17:50855129-50855130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535923987	chr17:50855177-50855178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71372131	chr17:50855180-50855181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374725965	chr17:50855181-50855182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4505387	chr17:50855182-50855183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs58669546	chr17:50855184-50855185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60704936	chr17:50855187-50855188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3041637	chr17:50855191-50855192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4636952	chr17:50855192-50855193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368458743	chr17:50855237-50855238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535963488	chr17:50855302-50855303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555934739	chr17:50855320-50855321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575801543	chr17:50855329-50855330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190571776	chr17:50855357-50855358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs36118312	chr17:50855362-50855363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs58786854	chr17:50855393-50855394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs72830616	chr17:50855412-50855413	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540122883	chr17:50855414-50855415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560318383	chr17:50855415-50855416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567767118	chr17:50855437-50855438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549145558	chr17:50855487-50855488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369715450	chr17:50855495-50855496	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chordoma	18071362	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myeloproliferative neoplasm	20015882	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50853400-50854800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:50854600-50856800	Enhancers	HUVEC	blood vessel

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