Variant report

Variant	nsv432855
Chromosome Location	chr6:23765651-23790212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:23784877..23787259-chr6:23789996..23792696,2	K562	blood:
2	chr6:23784877..23787259-chr6:23789996..23792696,2	K562	blood:

Extended variants
information (count: 488 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565462825	chr6:23774008-23774009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576792457	chr6:23774009-23774010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112434470	chr6:23774040-23774041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138167364	chr6:23774059-23774060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375975916	chr6:23774088-23774089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149526799	chr6:23774089-23774090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574080629	chr6:23774090-23774091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568886609	chr6:23774130-23774131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13198680	chr6:23774167-23774168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553421031	chr6:23774179-23774180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146036164	chr6:23774206-23774207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113027125	chr6:23774251-23774252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190289488	chr6:23774261-23774262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577361218	chr6:23774265-23774266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9356892	chr6:23774341-23774342	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9356893	chr6:23774359-23774360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9366532	chr6:23774365-23774366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560878920	chr6:23774390-23774391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528281740	chr6:23774413-23774414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180912759	chr6:23774414-23774415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546426097	chr6:23774450-23774451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534682326	chr6:23774470-23774471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6911487	chr6:23774487-23774488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114618907	chr6:23774507-23774508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138630064	chr6:23774545-23774546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570383935	chr6:23774559-23774560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115086893	chr6:23774595-23774596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184975622	chr6:23774604-23774605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9356894	chr6:23774606-23774607	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537658830	chr6:23774619-23774620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6911660	chr6:23774622-23774623	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs553088238	chr6:23774648-23774649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35080526	chr6:23774653-23774654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371172910	chr6:23774656-23774657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117945628	chr6:23774659-23774660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117580225	chr6:23774667-23774668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35946783	chr6:23774672-23774673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575183464	chr6:23774718-23774719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542597570	chr6:23774719-23774720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74661921	chr6:23774730-23774731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369869588	chr6:23774754-23774755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200027722	chr6:23774758-23774759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146254839	chr6:23774759-23774760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564987979	chr6:23774798-23774799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577896793	chr6:23774811-23774812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538916112	chr6:23774812-23774813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115037576	chr6:23774815-23774816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75349197	chr6:23774816-23774817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529681885	chr6:23774847-23774848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549457216	chr6:23774854-23774855	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
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
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
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	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
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23774000-23774600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:23774600-23774800	Enhancers	Rectal Smooth Muscle	rectum
3	chr6:23774600-23775000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:23774600-23775600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:23775200-23775800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:23775400-23775600	Enhancers	Rectal Smooth Muscle	rectum
7	chr6:23781600-23781800	Enhancers	Fetal Kidney	kidney
8	chr6:23783800-23785000	Enhancers	Fetal Kidney	kidney
9	chr6:23784000-23784200	Active TSS	Aorta	Aorta
10	chr6:23784000-23784400	Enhancers	Fetal Stomach	stomach
11	chr6:23784200-23784400	Flanking Active TSS	Aorta	Aorta
12	chr6:23784200-23784800	Enhancers	Rectal Smooth Muscle	rectum
13	chr6:23784200-23786000	Enhancers	Colon Smooth Muscle	Colon
14	chr6:23784400-23784600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:23784400-23785000	Enhancers	Aorta	Aorta
16	chr6:23784400-23785200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:23784400-23785200	Weak transcription	Fetal Stomach	stomach
18	chr6:23784600-23785200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:23785000-23786000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:23785000-23786000	Weak transcription	Fetal Kidney	kidney
21	chr6:23785200-23785600	Enhancers	Fetal Stomach	stomach
22	chr6:23785200-23786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:23785200-23786200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:23785400-23786400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:23785600-23785800	Weak transcription	Fetal Stomach	stomach
26	chr6:23785800-23786200	Enhancers	Fetal Stomach	stomach
27	chr6:23786000-23786200	Enhancers	Fetal Kidney	kidney
28	chr6:23786200-23790000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:23790000-23790400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:23790000-23790600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:23790200-23791800	Enhancers	Cortex derived primary cultured neurospheres	brain

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