Variant report

Variant	nsv969372
Chromosome Location	chr6:29541332-29542549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:29542523-29542538	LNCaP	prostate:	n/a	n/a
2	MYC	chr6:29542041-29542158	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29540015..29541608-chr6:29548921..29550821,2	K562	blood:
2	chr6:29539648..29541471-chr6:29551859..29553788,2	MCF-7	breast:

Variant related genes	Relation type
OR2H5P	TF binding region
TMEM183AP1	TF binding region
ENSG00000231301	chromatin interactions
ENSG00000201330	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563228021	chr6:29541338-29541339	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs6912437	chr6:29541394-29541395	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190448319	chr6:29541406-29541407	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs150941133	chr6:29541443-29541444	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527956907	chr6:29541446-29541447	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs78950938	chr6:29541455-29541456	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571151518	chr6:29541465-29541466	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539449782	chr6:29541493-29541494	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs556564379	chr6:29541507-29541508	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs569774914	chr6:29541524-29541525	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs144722395	chr6:29541551-29541552	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555106512	chr6:29541557-29541558	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs72507814	chr6:29541566-29541567	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs74374220	chr6:29541574-29541575	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs374602326	chr6:29541580-29541581	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs557764464	chr6:29541630-29541631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577909578	chr6:29541631-29541632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543008621	chr6:29541702-29541703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563274982	chr6:29541711-29541712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528970206	chr6:29541746-29541747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541172977	chr6:29541749-29541750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559524215	chr6:29541766-29541767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527865247	chr6:29541821-29541822	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548019230	chr6:29541833-29541834	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs181761095	chr6:29541846-29541847	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112925600	chr6:29541877-29541878	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs533688997	chr6:29541895-29541896	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs549862501	chr6:29541897-29541898	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs138633183	chr6:29541910-29541911	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs115684491	chr6:29541930-29541931	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs184481188	chr6:29541947-29541948	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565880601	chr6:29541951-29541952	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs534508170	chr6:29541999-29542000	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs188933608	chr6:29542021-29542022	Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs72507815	chr6:29542064-29542065	Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs141758982	chr6:29542078-29542079	Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs112888634	chr6:29542091-29542092	Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs556963369	chr6:29542161-29542162	Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs573666191	chr6:29542183-29542184	Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112248026	chr6:29542215-29542216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541228273	chr6:29542233-29542234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564708449	chr6:29542238-29542239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111355711	chr6:29542263-29542264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550155804	chr6:29542274-29542275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542384283	chr6:29542282-29542283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117342586	chr6:29542295-29542296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563664826	chr6:29542343-29542344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529244226	chr6:29542369-29542370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113117124	chr6:29542421-29542422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549003734	chr6:29542424-29542425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
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
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29541200-29553200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:29541800-29542000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:29541800-29542200	ZNF genes & repeats	Spleen	Spleen
4	chr6:29542000-29542200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:29542200-29545200	Weak transcription	Spleen	Spleen

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