Variant report

Variant	esv3447594
Chromosome Location	chr6:132260009-132262007
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	chr6:132257318..132261081-chr6:132269716..132272401,3	MCF-7	breast:
2	6:132259484-132267655..6:132269655-132282174	Hela-S3	cervix:
3	chr6:132258659..132260854-chr6:132273707..132276413,2	MCF-7	breast:
4	chr6:132256025..132258679-chr6:132259156..132260837,2	K562	blood:
5	6:132176847-132180372..6:132259484-132267655	GM12878	blood:
6	6:132182612-132191683..6:132259484-132267655	H1-hESC	embryonic stem cell:	embryo
7	chr6:132258935..132261869-chr6:132262949..132265816,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227220	chromatin interactions
ENSG00000118523	chromatin interactions
ENSG00000197594	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 78 )

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	rs146278068	chr6:132260065-132260066	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs558334629	chr6:132260073-132260074	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs374651733	chr6:132260085-132260086	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs527578572	chr6:132260092-132260093	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs117834539	chr6:132260093-132260094	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs548610299	chr6:132260110-132260111	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs560533400	chr6:132260149-132260150	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs556222483	chr6:132260158-132260159	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs376254993	chr6:132260189-132260190	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs531336145	chr6:132260199-132260200	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs145722045	chr6:132260274-132260275	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs148946121	chr6:132260350-132260351	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs143729118	chr6:132260367-132260368	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs386705941	chr6:132260403-132260404	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs148134720	chr6:132260407-132260408	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs540881475	chr6:132260426-132260427	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs552663827	chr6:132260476-132260477	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs182181374	chr6:132260492-132260493	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs532729654	chr6:132260494-132260495	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs550840692	chr6:132260527-132260528	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs569312754	chr6:132260540-132260541	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs530069115	chr6:132260561-132260562	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs62424528	chr6:132260562-132260563	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566481966	chr6:132260596-132260597	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs533844966	chr6:132260617-132260618	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs73779151	chr6:132260626-132260627	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369553992	chr6:132260647-132260648	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs570604369	chr6:132260651-132260652	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs538023929	chr6:132260753-132260754	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs374334916	chr6:132260781-132260782	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs200918636	chr6:132260783-132260784	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs57459987	chr6:132260797-132260798	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs372061217	chr6:132260798-132260799	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs375138787	chr6:132260799-132260800	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs550788275	chr6:132260815-132260816	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs201432638	chr6:132260846-132260847	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs568938674	chr6:132260847-132260848	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs536596496	chr6:132260848-132260849	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs185755419	chr6:132260895-132260896	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs188945174	chr6:132260934-132260935	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs569451000	chr6:132260952-132260953	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs563430304	chr6:132260991-132260992	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs553803286	chr6:132260994-132260995	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs572028586	chr6:132261000-132261001	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs145113138	chr6:132261012-132261013	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs565567804	chr6:132261032-132261033	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs529102904	chr6:132261120-132261121	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs532622933	chr6:132261121-132261122	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs181049247	chr6:132261147-132261148	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs549074342	chr6:132261198-132261199	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Colorectal cancer	16272173	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
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
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132258400-132260200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:132258400-132260200	Enhancers	NH-A	brain
3	chr6:132258400-132260600	Enhancers	HSMM	muscle
4	chr6:132258600-132260200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:132258800-132260200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:132259200-132271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:132259400-132260400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:132259400-132260800	Enhancers	HepG2	liver
9	chr6:132259400-132260800	Enhancers	NHDF-Ad	bronchial
10	chr6:132259400-132269800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:132259400-132270400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:132259400-132271000	Weak transcription	Liver	Liver
13	chr6:132259600-132260200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:132259600-132260400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:132259600-132260600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:132259600-132260600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:132259600-132260600	Enhancers	Osteobl	bone
18	chr6:132259600-132265400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:132259600-132265800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:132259600-132267600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:132259600-132268800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:132259600-132269400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:132259600-132269400	Weak transcription	HMEC	breast
24	chr6:132259600-132270000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:132259800-132268200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:132260000-132260200	Enhancers	NHLF	lung
27	chr6:132260000-132260400	Enhancers	A549	lung
28	chr6:132260000-132271000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr6:132260200-132265200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:132260200-132267000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:132260200-132267200	Weak transcription	NHLF	lung
32	chr6:132260200-132268200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:132260400-132264800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:132260400-132268600	Weak transcription	A549	lung
35	chr6:132260600-132267800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:132260600-132268000	Weak transcription	HSMM	muscle

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