Variant report

Variant	esv15423
Chromosome Location	chr6:2200729-2202604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:2197465..2200771-chr6:2202426..2205380,3	K562	blood:
2	chr6:2197465..2199923-chr6:2202426..2204312,2	K562	blood:
3	chr6:2197465..2200771-chr6:2202426..2205380,3	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148163729	chr6:2200734-2200735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531469621	chr6:2200735-2200736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200319763	chr6:2200814-2200815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554092930	chr6:2200821-2200822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577250947	chr6:2200829-2200830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539031163	chr6:2200845-2200846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558994494	chr6:2200862-2200863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7757356	chr6:2200872-2200873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs33917052	chr6:2200888-2200889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544705742	chr6:2200905-2200906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561294054	chr6:2200936-2200937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574952107	chr6:2200975-2200976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540468772	chr6:2201034-2201035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560412816	chr6:2201054-2201055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532671837	chr6:2201055-2201056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34854877	chr6:2201061-2201062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74217137	chr6:2201064-2201065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558374728	chr6:2201065-2201066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562520854	chr6:2201066-2201067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531279632	chr6:2201073-2201074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548246573	chr6:2201081-2201082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568097626	chr6:2201097-2201098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527473021	chr6:2201116-2201117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547658716	chr6:2201134-2201135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570710521	chr6:2201167-2201168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539751797	chr6:2201198-2201199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs55855668	chr6:2201209-2201210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192412804	chr6:2201214-2201215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569253363	chr6:2201246-2201247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371578563	chr6:2201250-2201251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537877697	chr6:2201274-2201275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555039701	chr6:2201280-2201281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574886064	chr6:2201288-2201289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540382506	chr6:2201295-2201296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553957591	chr6:2201299-2201300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577089163	chr6:2201337-2201338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202002701	chr6:2201346-2201347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546112592	chr6:2201367-2201368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563068569	chr6:2201369-2201370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531321467	chr6:2201415-2201416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs234951	chr6:2201424-2201425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs58405376	chr6:2201437-2201438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527384489	chr6:2201452-2201453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55847540	chr6:2201455-2201456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs56389607	chr6:2201484-2201485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570673939	chr6:2201487-2201488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368842057	chr6:2201532-2201533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372012346	chr6:2201537-2201538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550025372	chr6:2201538-2201539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569884288	chr6:2201544-2201545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2189600-2202800	Weak transcription	Pancreas	Pancrea
2	chr6:2191200-2203400	Weak transcription	Primary T cells from cord blood	blood
3	chr6:2192800-2222000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:2193800-2206600	Weak transcription	Fetal Intestine Small	intestine
5	chr6:2193800-2216800	Weak transcription	Gastric	stomach
6	chr6:2195200-2202800	Weak transcription	Aorta	Aorta
7	chr6:2197000-2202600	Weak transcription	HepG2	liver
8	chr6:2197400-2222000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:2197600-2202800	Weak transcription	Spleen	Spleen
10	chr6:2197800-2202800	Weak transcription	Left Ventricle	heart
11	chr6:2197800-2209400	Weak transcription	Stomach Mucosa	stomach
12	chr6:2198000-2202400	Weak transcription	Adipose Nuclei	Adipose
13	chr6:2198000-2202800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:2198000-2203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:2198000-2203400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:2198000-2206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:2198200-2202800	Weak transcription	Right Atrium	heart
18	chr6:2198600-2203400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:2198800-2202800	Weak transcription	HUVEC	blood vessel
20	chr6:2202400-2204200	Enhancers	Adipose Nuclei	Adipose
21	chr6:2202600-2203400	Strong transcription	HepG2	liver

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