Variant report

Variant	esv2762622
Chromosome Location	chr6:153817266-153869314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:153858319..153861041-chr6:153861487..153863317,2	K562	blood:
2	chr6:153633466..153634018-chr6:153833051..153833685,2	MCF-7	breast:
3	chr6:153803007..153804639-chr6:153864655..153867623,2	K562	blood:
4	chr6:153858319..153861041-chr6:153861487..153863317,2	K562	blood:
5	chr6:153551820..153552804-chr6:153832962..153833839,3	MCF-7	breast:
6	chr6:153323561..153325698-chr6:153833615..153836225,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL590867.1-2	chr6:153861937-153862090	XLOC_005508
2	lnc-AL590867.1-2	chr6:153860947-153861008	XLOC_005508

No data

Variant related genes	Relation type
ENSG00000112031	chromatin interactions
ENSG00000213121	chromatin interactions

Extended variants
information (count: 425 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201321020	chr6:153817268-153817269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28593673	chr6:153817282-153817283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566301013	chr6:153817362-153817363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528380330	chr6:153817390-153817391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs624150	chr6:153817449-153817450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187179123	chr6:153817551-153817552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs624619	chr6:153817556-153817557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550817312	chr6:153817577-153817578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375026965	chr6:153817604-153817605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2350094	chr6:153817619-153817620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192473915	chr6:153817646-153817647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560732913	chr6:153817660-153817661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs635512	chr6:153817705-153817706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs635616	chr6:153817780-153817781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558791130	chr6:153817782-153817783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577140506	chr6:153817805-153817806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543019495	chr6:153817815-153817816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538186357	chr6:153817899-153817900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575286828	chr6:153817900-153817901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542403068	chr6:153817927-153817928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145715312	chr6:153817929-153817930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572833872	chr6:153818010-153818011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556237955	chr6:153818037-153818038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372753667	chr6:153818050-153818051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375539043	chr6:153818056-153818057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116741273	chr6:153818057-153818058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183261233	chr6:153818059-153818060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544406693	chr6:153818122-153818123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551925055	chr6:153818175-153818176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530209474	chr6:153818205-153818206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368027438	chr6:153818221-153818222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368256259	chr6:153818255-153818256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141290317	chr6:153818284-153818285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527650384	chr6:153818298-153818299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376227300	chr6:153818306-153818307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78491184	chr6:153818362-153818363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2100719	chr6:153818379-153818380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs116512964	chr6:153818393-153818394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60874941	chr6:153818405-153818406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs375271609	chr6:153818417-153818418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367969216	chr6:153818443-153818444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188672787	chr6:153818462-153818463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554336680	chr6:153818489-153818490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191567306	chr6:153818497-153818498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182580043	chr6:153818513-153818514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371062385	chr6:153818529-153818530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528311680	chr6:153818592-153818593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145133388	chr6:153818600-153818601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115565301	chr6:153818601-153818602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562805420	chr6:153818743-153818744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Gastric cancer	17908304	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
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:153814600-153819200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:153819200-153820000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:153833000-153833400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:153833000-153833400	Enhancers	Adipose Nuclei	Adipose
5	chr6:153833000-153833600	Enhancers	Dnd41	blood
6	chr6:153842200-153842600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:153858200-153858400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:153858600-153859400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:153859400-153859600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:153859400-153861800	Enhancers	Dnd41	blood
11	chr6:153859600-153860000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:153859600-153860200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:153860400-153860600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:153860600-153861400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:153860600-153861600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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