Variant report

Variant	esv3526719
Chromosome Location	chr6:418302-420450
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	chr6:417285..418861-chr6:423980..426711,2	MCF-7	breast:
2	chr6:412558..415332-chr6:420167..422817,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367991418	chr6:418304-418305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371030343	chr6:418400-418401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149431109	chr6:418409-418410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577312771	chr6:418494-418495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546267188	chr6:418508-418509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562776087	chr6:418519-418520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538976015	chr6:418529-418530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369354594	chr6:418534-418535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542215930	chr6:418608-418609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562383383	chr6:418725-418726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73371395	chr6:418738-418739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548014376	chr6:418851-418852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144655143	chr6:418855-418856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532149922	chr6:418935-418936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9378807	chr6:418941-418942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568790202	chr6:418950-418951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537872447	chr6:418960-418961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554100370	chr6:418962-418963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544248391	chr6:419014-419015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60329714	chr6:419075-419076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12174850	chr6:419087-419088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12174536	chr6:419118-419119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568015207	chr6:419132-419133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533830845	chr6:419138-419139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55882309	chr6:419141-419142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576951216	chr6:419143-419144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61394258	chr6:419151-419152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56048661	chr6:419152-419153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56216851	chr6:419165-419166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56189601	chr6:419166-419167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55862864	chr6:419183-419184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546008865	chr6:419205-419206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556639861	chr6:419209-419210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574459585	chr6:419247-419248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191120790	chr6:419311-419312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs70982831	chr6:419328-419329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9405655	chr6:419329-419330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9405656	chr6:419335-419336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9405657	chr6:419352-419353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9405658	chr6:419371-419372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576425214	chr6:419386-419387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542254134	chr6:419407-419408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562016964	chr6:419412-419413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540279122	chr6:419446-419447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112951335	chr6:419515-419516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13214848	chr6:419533-419534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541737714	chr6:419538-419539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9378373	chr6:419548-419549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533550787	chr6:419687-419688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550081179	chr6:419708-419709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:412000-420800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:412200-422400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:417400-418600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:418600-419000	Enhancers	Fetal Muscle Trunk	muscle
5	chr6:419800-420200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr6:420200-423400	Weak transcription	Placenta Amnion	Placenta Amnion

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