Variant report

Variant	esv3340613
Chromosome Location	chr6:27067598-27070146
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27057895..27061328-chr6:27066502..27071187,4	K562	blood:
2	chr6:27062755..27066396-chr6:27068240..27071755,4	K562	blood:
3	chr6:27067162..27070040-chr6:27096480..27098793,2	K562	blood:
4	chr6:27062735..27064770-chr6:27065188..27068099,2	K562	blood:
5	chr6:27069505..27071907-chr6:27099988..27103425,3	K562	blood:
6	chr6:27063517..27066449-chr6:27068447..27070527,3	K562	blood:
7	chr6:27068038..27071892-chr6:27075908..27081186,6	K562	blood:
8	chr6:27069169..27071424-chr6:27084418..27087104,2	K562	blood:
9	chr6:27059752..27061328-chr6:27065791..27068002,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2BJ-5	chr6:27068166-27068366	l_3148_chr6:27068165-27095862_brain

No data

Variant related genes	Relation type
ENSG00000196787	chromatin interactions
ENSG00000222800	chromatin interactions
ENSG00000124635	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377090620	chr6:27067617-27067618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371077123	chr6:27067641-27067642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12055730	chr6:27067646-27067647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs35657082	chr6:27067657-27067658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187903345	chr6:27067783-27067784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377007350	chr6:27067790-27067791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549103456	chr6:27067883-27067884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370637034	chr6:27067967-27067968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191625174	chr6:27067993-27067994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72842200	chr6:27068036-27068037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557873209	chr6:27068113-27068114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182550754	chr6:27068116-27068117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539764195	chr6:27068121-27068122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187914631	chr6:27068130-27068131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370596841	chr6:27068178-27068179	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs545075866	chr6:27068183-27068184	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs374277426	chr6:27068186-27068187	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs564682532	chr6:27068188-27068189	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs576338414	chr6:27068189-27068190	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs377288684	chr6:27068195-27068196	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs200259663	chr6:27068203-27068204	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs192375606	chr6:27068207-27068208	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs541935962	chr6:27068210-27068211	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs555485238	chr6:27068222-27068223	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs112238735	chr6:27068231-27068232	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs572050587	chr6:27068233-27068234	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs202179359	chr6:27068264-27068265	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs34130660	chr6:27068269-27068270	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs540982319	chr6:27068270-27068271	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs563942288	chr6:27068271-27068272	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs5875126	chr6:27068277-27068278	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs371138891	chr6:27068280-27068281	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs375614256	chr6:27068308-27068309	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs368630112	chr6:27068334-27068335	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs371450376	chr6:27068361-27068362	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs373625826	chr6:27068363-27068364	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs371040016	chr6:27068371-27068372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371768305	chr6:27068379-27068380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368039447	chr6:27068415-27068416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs62646232	chr6:27068416-27068417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372009471	chr6:27068423-27068424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374166733	chr6:27068430-27068431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375593295	chr6:27068436-27068437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376204172	chr6:27068437-27068438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs62646233	chr6:27068442-27068443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs62646234	chr6:27068449-27068450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs62646235	chr6:27068456-27068457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371939785	chr6:27068461-27068462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs28754671	chr6:27068480-27068481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs28575036	chr6:27068486-27068487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	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
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
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27065400-27069800	Weak transcription	K562	blood
2	chr6:27068200-27069600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:27069600-27070200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:27069800-27070200	Strong transcription	K562	blood

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