Variant report

Variant	esv3473897
Chromosome Location	chr6:30996031-30997872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30991705..30994740-chr6:30996173..30998795,3	K562	blood:
2	chr6:30992875..30996671-chr6:31006000..31008963,4	K562	blood:
3	chr6:30989389..30991180-chr6:30994181..30996114,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC21-1	chr6:30997689-30997877	XLOC_005242

Extended variants
information (count: 111 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544967497	chr6:30996082-30996083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552897274	chr6:30996105-30996106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572401161	chr6:30996120-30996121	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564732150	chr6:30996132-30996133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200838925	chr6:30996155-30996156	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561267367	chr6:30996175-30996176	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372700677	chr6:30996194-30996195	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528691140	chr6:30996210-30996211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140118178	chr6:30996290-30996291	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75683091	chr6:30996314-30996315	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145516093	chr6:30996315-30996316	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151122038	chr6:30996325-30996326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72502538	chr6:30996354-30996355	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11759987	chr6:30996363-30996364	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549057564	chr6:30996385-30996386	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185475021	chr6:30996407-30996408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139641707	chr6:30996416-30996417	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550190545	chr6:30996488-30996489	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566486755	chr6:30996489-30996490	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568508535	chr6:30996490-30996491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544518345	chr6:30996492-30996493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201042516	chr6:30996493-30996494	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182720284	chr6:30996501-30996502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539387173	chr6:30996509-30996510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200915546	chr6:30996572-30996573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538926131	chr6:30996574-30996575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142368549	chr6:30996587-30996588	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187853481	chr6:30996589-30996590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557639114	chr6:30996593-30996594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542703716	chr6:30996597-30996598	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561412163	chr6:30996600-30996601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576647994	chr6:30996604-30996605	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544000733	chr6:30996606-30996607	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565503564	chr6:30996613-30996614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532809016	chr6:30996619-30996620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199909713	chr6:30996620-30996621	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548058975	chr6:30996629-30996630	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559840571	chr6:30996649-30996650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527255810	chr6:30996650-30996651	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548734293	chr6:30996671-30996672	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367822103	chr6:30996677-30996678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566988178	chr6:30996699-30996700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200849001	chr6:30996702-30996703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531326643	chr6:30996731-30996732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549517951	chr6:30996733-30996734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571117114	chr6:30996738-30996739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538498938	chr6:30996742-30996743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554033120	chr6:30996745-30996746	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150018862	chr6:30996767-30996768	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201596883	chr6:30996791-30996792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Ovarian cancer	21781307	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
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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30972600-30997600	Weak transcription	Right Atrium	heart
2	chr6:30993400-30997800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30997600-30997800	Enhancers	Right Atrium	heart
4	chr6:30997800-30998600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:30997800-31005000	Weak transcription	Right Atrium	heart

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