Variant report

Variant	esv3369015
Chromosome Location	chr6:142326559-142330057
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	chr6:142329102..142331805-chr7:35011843..35013358,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173852	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546293802	chr6:142326596-142326597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561727639	chr6:142326660-142326661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372690206	chr6:142326671-142326672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528914522	chr6:142326672-142326673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150839314	chr6:142326791-142326792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553160683	chr6:142326804-142326805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568847489	chr6:142326805-142326806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139318315	chr6:142326820-142326821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562778684	chr6:142326831-142326832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142526657	chr6:142326886-142326887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181695118	chr6:142326904-142326905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17071354	chr6:142326995-142326996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575997257	chr6:142327016-142327017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555450118	chr6:142327040-142327041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567386393	chr6:142327139-142327140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548426216	chr6:142327148-142327149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567726080	chr6:142327231-142327232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537928228	chr6:142327253-142327254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187325331	chr6:142327254-142327255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577950030	chr6:142327264-142327265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201678564	chr6:142327267-142327268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72011978	chr6:142327268-142327269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs5880520	chr6:142327270-142327271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75018219	chr6:142327272-142327273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397741935	chr6:142327275-142327276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374037248	chr6:142327278-142327279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367915078	chr6:142327279-142327280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561735255	chr6:142327282-142327283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56386163	chr6:142327290-142327291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79231047	chr6:142327298-142327299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74595630	chr6:142327342-142327343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79702754	chr6:142327506-142327507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369491359	chr6:142327524-142327525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561790673	chr6:142327613-142327614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529024506	chr6:142327756-142327757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544306904	chr6:142327766-142327767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562542060	chr6:142327771-142327772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17071356	chr6:142327802-142327803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552053416	chr6:142327831-142327832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369293191	chr6:142327835-142327836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558947076	chr6:142327840-142327841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527894613	chr6:142327909-142327910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190579948	chr6:142327958-142327959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181002323	chr6:142327974-142327975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75590886	chr6:142328000-142328001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201051028	chr6:142328011-142328012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571619634	chr6:142328056-142328057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538617658	chr6:142328138-142328139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558051172	chr6:142328149-142328150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185076275	chr6:142328180-142328181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142310800-142334400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:142311000-142329000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:142312200-142329000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:142320800-142330200	Weak transcription	HSMM	muscle
5	chr6:142324600-142335000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:142326200-142326600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:142326200-142326800	Enhancers	K562	blood
8	chr6:142326800-142330000	Weak transcription	K562	blood
9	chr6:142328000-142329200	Weak transcription	HMEC	breast
10	chr6:142329000-142329400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:142329000-142329400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:142329000-142329800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:142329000-142332400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:142329000-142333400	Enhancers	Hela-S3	cervix
15	chr6:142329200-142329400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:142329200-142329400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:142329200-142331200	Enhancers	HMEC	breast
18	chr6:142329200-142331200	Enhancers	NHEK	skin
19	chr6:142329200-142331600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:142329400-142330400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:142329400-142330600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:142329400-142335000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:142329400-142335000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:142329800-142330600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:142329800-142334400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:142330000-142330400	Enhancers	K562	blood
27	chr6:142330000-142330600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:142330000-142335000	Enhancers	NH-A	brain
29	chr6:142330000-142335400	Enhancers	NHDF-Ad	bronchial

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