Variant report

Variant	nsv970079
Chromosome Location	chr6:15935054-15936602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15904972..15907971-chr6:15936573..15939321,3	K562	blood:
2	chr6:15936585..15939387-chr6:16128876..16132065,3	K562	blood:
3	chr6:15935209..15937879-chr6:15952425..15954848,2	K562	blood:
4	chr6:15934754..15936502-chr6:16128240..16130884,3	K562	blood:
5	chr6:15934763..15939387-chr6:16128277..16133205,7	K562	blood:
6	chr6:15936505..15939264-chr6:16134732..16136454,2	K562	blood:

Variant related genes	Relation type
ENSG00000007944	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183132120	chr6:15935082-15935083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576761664	chr6:15935115-15935116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150006911	chr6:15935116-15935117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534026053	chr6:15935186-15935187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs367987474	chr6:15935223-15935224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs547288646	chr6:15935248-15935249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567426232	chr6:15935249-15935250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187816779	chr6:15935282-15935283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191915345	chr6:15935306-15935307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575273458	chr6:15935325-15935326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111360130	chr6:15935330-15935331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145289703	chr6:15935371-15935372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558450662	chr6:15935373-15935374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534691429	chr6:15935374-15935375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149165585	chr6:15935394-15935395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552998733	chr6:15935399-15935400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184340976	chr6:15935403-15935404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574547883	chr6:15935477-15935478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574240486	chr6:15935478-15935479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541969136	chr6:15935510-15935511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562561044	chr6:15935560-15935561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs188556732	chr6:15935566-15935567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538161175	chr6:15935568-15935569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143215217	chr6:15935571-15935572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563875765	chr6:15935599-15935600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575725267	chr6:15935605-15935606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192884532	chr6:15935634-15935635	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547623599	chr6:15935655-15935656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138820780	chr6:15935679-15935680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184891443	chr6:15935752-15935753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568986278	chr6:15935776-15935777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538270418	chr6:15935780-15935781	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536125856	chr6:15935798-15935799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs140701186	chr6:15935827-15935828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577944583	chr6:15935851-15935852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564758485	chr6:15935892-15935893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534231355	chr6:15935941-15935942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554405474	chr6:15935952-15935953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs115126849	chr6:15935984-15935985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543241160	chr6:15935985-15935986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs189346440	chr6:15935999-15936000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576219020	chr6:15936028-15936029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528841099	chr6:15936031-15936032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs180921929	chr6:15936066-15936067	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs564730376	chr6:15936072-15936073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145911658	chr6:15936137-15936138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs138403528	chr6:15936138-15936139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs115573988	chr6:15936201-15936202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141969158	chr6:15936222-15936223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11322566	chr6:15936263-15936264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15928000-15936400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:15935000-15936800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:15936000-15937000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr6:15936000-15937600	Enhancers	GM12878-XiMat	blood
5	chr6:15936000-15937800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:15936000-15938200	Enhancers	Primary B cells from peripheral blood	blood
7	chr6:15936200-15937400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:15936200-15937800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr6:15936400-15937400	Enhancers	Primary B cells from cord blood	blood
10	chr6:15936400-15937600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:15936400-15937600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:15936400-15951200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:15936600-15937800	Enhancers	Primary hematopoietic stem cells	blood

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