Variant report

Variant	esv3472182
Chromosome Location	chr6:16882973-16887971
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	chr6:16825724..16828352-chr6:16882552..16885274,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATXN1-4	chr6:16886711-16886818	NONHSAT107911
2	lnc-ATXN1-4	chr6:16886520-16886630	NONHSAT107911

Extended variants
information (count: 148 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145960406	chr6:16883216-16883217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62390964	chr6:16883267-16883268	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565446926	chr6:16883299-16883300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564406180	chr6:16883305-16883306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56092197	chr6:16883306-16883307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs201770455	chr6:16883316-16883317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546766913	chr6:16883366-16883367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34955611	chr6:16883442-16883443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186148608	chr6:16883572-16883573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375726120	chr6:16883578-16883579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528976872	chr6:16883589-16883590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548265090	chr6:16883597-16883598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535652812	chr6:16884768-16884769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370863295	chr6:16884822-16884823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142683124	chr6:16884922-16884923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112468723	chr6:16885013-16885014	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569002734	chr6:16885038-16885039	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150986688	chr6:16885073-16885074	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558112618	chr6:16885079-16885080	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577977704	chr6:16885088-16885089	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140459332	chr6:16885103-16885104	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554117784	chr6:16885117-16885118	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12201340	chr6:16885124-16885125	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542833392	chr6:16885218-16885219	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562707807	chr6:16885225-16885226	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182777710	chr6:16885333-16885334	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78966601	chr6:16885376-16885377	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372328780	chr6:16885381-16885382	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544797406	chr6:16885419-16885420	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564862237	chr6:16885453-16885454	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527297147	chr6:16885479-16885480	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547223038	chr6:16885480-16885481	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561472710	chr6:16885547-16885548	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553364991	chr6:16885567-16885568	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145473317	chr6:16885572-16885573	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12196917	chr6:16885605-16885606	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549152907	chr6:16885628-16885629	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs188291132	chr6:16885643-16885644	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs538311406	chr6:16885645-16885646	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs12530252	chr6:16885684-16885685	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192184496	chr6:16885710-16885711	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs533943525	chr6:16885742-16885743	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs183863585	chr6:16885757-16885758	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs551564899	chr6:16885769-16885770	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs573966927	chr6:16885806-16885807	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs557409575	chr6:16885848-16885849	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs73725267	chr6:16885861-16885862	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556365328	chr6:16885888-16885889	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs115161430	chr6:16885918-16885919	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs188393264	chr6:16886073-16886074	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16883200-16883600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:16884600-16886000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:16884600-16886000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:16884600-16886400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:16884600-16886400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:16884800-16885200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr6:16884800-16885400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:16884800-16885600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:16884800-16885600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:16885000-16886600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr6:16885600-16886000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:16886000-16886200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:16886000-16886400	Enhancers	K562	blood
14	chr6:16886200-16886600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:16886400-16891200	Weak transcription	K562	blood
16	chr6:16886600-16890000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:16886600-16890600	Active TSS	HUES6 Cell Line	embryonic stem cell

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