Variant report

Variant	esv1807636
Chromosome Location	chr6:30999997-31002013
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:1)
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	chr6:30992182..30995323-chr6:30998811..31002073,3	K562	blood:
2	chr6:30999055..31000640-chr6:31000771..31002332,2	K562	blood:
3	chr6:30999055..31000640-chr6:31000771..31002332,2	K562	blood:
4	chr6:30998897..31001147-chr6:31006108..31008262,2	K562	blood:
5	chr6:31001503..31003399-chr6:31005884..31008190,2	K562	blood:
6	chr6:30992122..30993777-chr6:30998805..31001666,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC21-1	chr6:30999973-31000358	XLOC_005242

No data

Extended variants
information (count: 71 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10947121	chr6:30999997-30999998	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs72502540	chr6:31000005-31000006	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs143201933	chr6:31000012-31000013	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs545473695	chr6:31000020-31000021	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs185820579	chr6:31000040-31000041	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs191359240	chr6:31000143-31000144	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs561532111	chr6:31000163-31000164	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs532065538	chr6:31000204-31000205	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs542292543	chr6:31000225-31000226	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs560846423	chr6:31000253-31000254	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs373660678	chr6:31000397-31000398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9468861	chr6:31000489-31000490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181217482	chr6:31000506-31000507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186088081	chr6:31000578-31000579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566475809	chr6:31000644-31000645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138891492	chr6:31000668-31000669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62401674	chr6:31000680-31000681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs573549603	chr6:31000685-31000686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12661923	chr6:31000718-31000719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12661935	chr6:31000796-31000797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs141565944	chr6:31000896-31000897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377330410	chr6:31000910-31000911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545098579	chr6:31000941-31000942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534281243	chr6:31000942-31000943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60105357	chr6:31000998-31000999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191087306	chr6:31001009-31001010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10947122	chr6:31001011-31001012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs200184068	chr6:31001040-31001041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201115974	chr6:31001042-31001043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372237004	chr6:31001045-31001046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200465341	chr6:31001049-31001050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560104446	chr6:31001050-31001051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532004369	chr6:31001075-31001076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544119086	chr6:31001080-31001081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368605681	chr6:31001096-31001097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78935638	chr6:31001097-31001098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532921787	chr6:31001106-31001107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13210132	chr6:31001143-31001144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10947123	chr6:31001166-31001167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs182160976	chr6:31001167-31001168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548726376	chr6:31001174-31001175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28732080	chr6:31001177-31001178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs117821994	chr6:31001197-31001198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147023695	chr6:31001219-31001220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114051916	chr6:31001310-31001311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138401995	chr6:31001354-31001355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9468862	chr6:31001355-31001356	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572526668	chr6:31001383-31001384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34247365	chr6:31001390-31001391	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187912452	chr6:31001392-31001393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30997800-31005000	Weak transcription	Right Atrium	heart
2	chr6:30999200-31004400	Weak transcription	Pancreas	Pancrea
3	chr6:31001200-31001400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:31001600-31004800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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