Variant report

Variant	esv3393060
Chromosome Location	chr6:15666313-15668019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15667725..15669780-chr6:16137146..16139008,2	K562	blood:
2	chr6:15657500..15659223-chr6:15666722..15668599,2	K562	blood:
3	chr6:15665975..15668458-chr6:16128792..16131070,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000007944	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62395006	chr6:15666439-15666440	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550758933	chr6:15666480-15666481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180797130	chr6:15666489-15666490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555079356	chr6:15666503-15666504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs62395007	chr6:15666511-15666512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533413578	chr6:15666531-15666532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547007986	chr6:15666535-15666536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184907160	chr6:15666564-15666565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs150948386	chr6:15666573-15666574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563910755	chr6:15666578-15666579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189808112	chr6:15666640-15666641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531187063	chr6:15666658-15666659	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142100506	chr6:15666669-15666670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577312043	chr6:15666693-15666694	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115631499	chr6:15666774-15666775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201170340	chr6:15666810-15666811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553331895	chr6:15666826-15666827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573622236	chr6:15666829-15666830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113851268	chr6:15666833-15666834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562714700	chr6:15666891-15666892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576110201	chr6:15666901-15666902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545185002	chr6:15666923-15666924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564465712	chr6:15666971-15666972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114701762	chr6:15667078-15667079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564695608	chr6:15667099-15667100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547044624	chr6:15667106-15667107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560483063	chr6:15667107-15667108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529629431	chr6:15667155-15667156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532120079	chr6:15667163-15667164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547108499	chr6:15667207-15667208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565765824	chr6:15667219-15667220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs59816508	chr6:15667285-15667286	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569434830	chr6:15667303-15667304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201205969	chr6:15667331-15667332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551940607	chr6:15667341-15667342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571042013	chr6:15667354-15667355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138695013	chr6:15667381-15667382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553368677	chr6:15667382-15667383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111634664	chr6:15667442-15667443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375178107	chr6:15667491-15667492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111941206	chr6:15667649-15667650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs137884823	chr6:15667684-15667685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544911234	chr6:15667692-15667693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373450948	chr6:15667708-15667709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375709663	chr6:15667715-15667716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376102465	chr6:15667717-15667718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs370382510	chr6:15667729-15667730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375979804	chr6:15667736-15667737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368218602	chr6:15667737-15667738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs9464813	chr6:15667774-15667775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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	21364760	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
Breast cancer	17142309	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15664000-15668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:15664200-15668400	Weak transcription	K562	blood

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