Variant report

Variant	esv3401934
Chromosome Location	chr6:6260753-6263651
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	chr6:6258598..6261465-chr6:6266039..6267844,2	K562	blood:
2	chr6:6255207..6256836-chr6:6260171..6262500,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375793444	chr6:6260785-6260786	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182473515	chr6:6260797-6260798	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527291689	chr6:6260811-6260812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115925549	chr6:6260812-6260813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560862685	chr6:6260826-6260827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531664313	chr6:6260831-6260832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187106412	chr6:6260838-6260839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571371388	chr6:6260876-6260877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538802278	chr6:6260877-6260878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114234537	chr6:6260887-6260888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536117520	chr6:6260909-6260910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527344523	chr6:6260918-6260919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368969913	chr6:6260921-6260922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138286202	chr6:6260922-6260923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572097927	chr6:6260965-6260966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536338385	chr6:6260980-6260981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554592607	chr6:6260984-6260985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576006408	chr6:6261074-6261075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537378458	chr6:6261087-6261088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559174733	chr6:6261116-6261117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143002369	chr6:6261122-6261123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541572457	chr6:6261139-6261140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549415968	chr6:6261198-6261199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559977017	chr6:6261248-6261249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572214937	chr6:6261250-6261251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542720840	chr6:6261265-6261266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560899476	chr6:6261267-6261268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531300844	chr6:6261287-6261288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182726642	chr6:6261288-6261289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2608858	chr6:6261335-6261336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2608859	chr6:6261364-6261365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs144387687	chr6:6261384-6261385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565535555	chr6:6261444-6261445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563885651	chr6:6261480-6261481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548263409	chr6:6261484-6261485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529594370	chr6:6261495-6261496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9766026	chr6:6261536-6261537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs372684790	chr6:6261543-6261544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558995449	chr6:6261561-6261562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571163088	chr6:6261567-6261568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112694057	chr6:6261570-6261571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553629415	chr6:6261573-6261574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145590594	chr6:6261596-6261597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542757681	chr6:6261626-6261627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148427195	chr6:6261666-6261667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35453766	chr6:6261680-6261681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115824024	chr6:6261690-6261691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543367956	chr6:6261691-6261692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188872230	chr6:6261706-6261707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532485315	chr6:6261707-6261708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
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
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20688739	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:6250400-6262600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr6:6257800-6267200	Weak transcription	Placenta	Placenta
3	chr6:6258000-6261600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:6258000-6266400	Weak transcription	HSMMtube	muscle
5	chr6:6260000-6262400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr6:6260200-6260800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:6260200-6260800	Enhancers	Gastric	stomach
8	chr6:6260200-6260800	Strong transcription	HSMM	muscle
9	chr6:6260400-6260800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:6260400-6261000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr6:6260400-6261000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:6260600-6260800	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr6:6260600-6261000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:6260600-6261000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:6260800-6264200	Weak transcription	HSMM	muscle
16	chr6:6262400-6268800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr6:6262600-6263800	Strong transcription	Primary monocytes fromperipheralblood	blood

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