Variant report

Variant	nsv981050
Chromosome Location	chr6:25728402-25729439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr6:25725670-25728569	K562	blood:	n/a	n/a
2	POLR2A	chr6:25725621-25728449	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:25725904..25728723-chr6:26024464..26030208,7	K562	blood:
2	chr6:25724700..25728805-chr6:26024464..26033486,16	K562	blood:
3	chr6:25726417..25728737-chr6:26124112..26125886,2	K562	blood:
4	chr6:25726594..25729863-chr6:25991893..25994558,4	K562	blood:
5	chr5:177631720..177633728-chr6:25726576..25729132,2	K562	blood:
6	chr6:25725442..25728537-chr6:25991436..25993393,3	K562	blood:

No data

Variant related genes	Relation type
HIST1H2AA	TF binding region
HIST1H2APS1	TF binding region
ENSG00000124693	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000272462	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000124529	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563659930	chr6:25728459-25728460	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs529323310	chr6:25728462-25728463	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs141875853	chr6:25728469-25728470	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs559891590	chr6:25728484-25728485	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs527441327	chr6:25728552-25728553	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs35243936	chr6:25728562-25728563	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs533118424	chr6:25728570-25728571	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs187015944	chr6:25728644-25728645	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs147103945	chr6:25728683-25728684	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs551518382	chr6:25728688-25728689	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs548459037	chr6:25728689-25728690	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs550082751	chr6:25728724-25728725	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs534127391	chr6:25728776-25728777	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs569274321	chr6:25728795-25728796	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs566419237	chr6:25728847-25728848	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs535102834	chr6:25728893-25728894	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs554996593	chr6:25728974-25728975	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs371817120	chr6:25728996-25728997	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs571815116	chr6:25728998-25728999	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534753774	chr6:25729007-25729008	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs138481471	chr6:25729019-25729020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs527360865	chr6:25729028-25729029	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs77962767	chr6:25729055-25729056	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs543725826	chr6:25729083-25729084	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs149627205	chr6:25729103-25729104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574038570	chr6:25729155-25729156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192217801	chr6:25729166-25729167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182959588	chr6:25729194-25729195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188031681	chr6:25729210-25729211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144334595	chr6:25729228-25729229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12194699	chr6:25729229-25729230	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12201724	chr6:25729256-25729257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111780339	chr6:25729289-25729290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs79589647	chr6:25729341-25729342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569617426	chr6:25729374-25729375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs193086220	chr6:25729387-25729388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	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
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
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25726800-25732600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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