Variant report

Variant	esv3321980
Chromosome Location	chr6:15744702-15744866
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15738603..15741543-chr6:15742364..15744974,2	MCF-7	breast:
2	chr6:15736277..15738090-chr6:15744197..15746726,2	K562	blood:
3	chr6:15739334..15746702-chr6:16128002..16131195,9	K562	blood:
4	chr6:15743873..15748458-chr6:15751737..15757129,6	MCF-7	breast:
5	chr6:15740904..15747364-chr6:15754114..15758056,5	K562	blood:

Variant related genes	Relation type
ENSG00000007944	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368301088	chr6:15744704-15744705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs199532091	chr6:15744705-15744706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2327903	chr6:15744706-15744707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371745335	chr6:15744710-15744711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371154338	chr6:15744717-15744718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs111761601	chr6:15744718-15744719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2327906	chr6:15744726-15744727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545932717	chr6:15744730-15744731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2327907	chr6:15744735-15744736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2327908	chr6:15744736-15744737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs3070210	chr6:15744742-15744743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532529432	chr6:15744752-15744753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs139597961	chr6:15744760-15744761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2327909	chr6:15744768-15744769	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535568185	chr6:15744772-15744773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138717818	chr6:15744778-15744779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs188418910	chr6:15744788-15744789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13202197	chr6:15744796-15744797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569056908	chr6:15744800-15744801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs58357313	chr6:15744805-15744806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568019769	chr6:15744816-15744817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536949422	chr6:15744823-15744824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs13202206	chr6:15744824-15744825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573063425	chr6:15744828-15744829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200987087	chr6:15744833-15744834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs151226088	chr6:15744844-15744845	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112055720	chr6:15744847-15744848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113429259	chr6:15744851-15744852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs13202302	chr6:15744852-15744853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140267607	chr6:15744854-15744855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555498707	chr6:15744861-15744862	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15737000-15745400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:15740600-15745200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:15740600-15745200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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