Variant report

Variant	esv2427616
Chromosome Location	chr6:11945409-11946714
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11943368..11946151-chr6:11992060..11994891,2	K562	blood:
2	chr6:11946393..11948154-chr6:11992265..11994588,2	K562	blood:
3	chr6:11930636..11932967-chr6:11944215..11946007,3	K562	blood:
4	chr6:11943808..11945567-chr6:11950046..11952634,2	K562	blood:
5	chr6:11943872..11945567-chr6:11954478..11956491,2	K562	blood:
6	chr6:11942314..11946137-chr6:11947181..11949367,4	K562	blood:
7	chr6:11928396..11930237-chr6:11946465..11949444,2	K562	blood:
8	chr6:11945990..11949036-chr6:11950804..11953646,3	K562	blood:
9	chr6:11944959..11946761-chr6:12016853..12018812,2	K562	blood:
10	chr6:11922270..11924751-chr6:11942843..11945942,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225102	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537174003	chr6:11945422-11945423	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1205874	chr6:11945478-11945479	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371791851	chr6:11945479-11945480	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4714052	chr6:11945482-11945483	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1205875	chr6:11945509-11945510	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551074064	chr6:11945529-11945530	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184270260	chr6:11945541-11945542	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537906168	chr6:11945624-11945625	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs9349034	chr6:11945654-11945655	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1205876	chr6:11945675-11945676	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs146664475	chr6:11945695-11945696	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574330770	chr6:11945752-11945753	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs16872095	chr6:11945778-11945779	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1205877	chr6:11945807-11945808	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576972697	chr6:11945858-11945859	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181793201	chr6:11945895-11945896	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138521630	chr6:11945924-11945925	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187224147	chr6:11945968-11945969	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190402722	chr6:11945984-11945985	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs199498281	chr6:11946033-11946034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562157694	chr6:11946067-11946068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530801337	chr6:11946114-11946115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550518136	chr6:11946120-11946121	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543793299	chr6:11946221-11946222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554288414	chr6:11946250-11946251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570617417	chr6:11946277-11946278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1205878	chr6:11946306-11946307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34520440	chr6:11946310-11946311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554958420	chr6:11946425-11946426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574913736	chr6:11946436-11946437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397887581	chr6:11946437-11946438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10696010	chr6:11946453-11946454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16872098	chr6:11946479-11946480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114766319	chr6:11946532-11946533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77908939	chr6:11946568-11946569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574525849	chr6:11946573-11946574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370423765	chr6:11946627-11946628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149461483	chr6:11946648-11946649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs960414	chr6:11946676-11946677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
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	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
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
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11942400-11945600	Enhancers	Fetal Intestine Large	intestine
2	chr6:11944600-11946800	Weak transcription	K562	blood
3	chr6:11945200-11946000	Enhancers	Liver	Liver
4	chr6:11946000-11947800	Weak transcription	Liver	Liver

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