Variant report

Variant	nsv965635
Chromosome Location	chr6:29395355-29402762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:428)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
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	CTCF	chr6:29400865-29400919	Spleen_OC	spleen:	n/a	n/a
2	STAT3	chr6:29395368-29395628	MCF10A-Er-Src	breast:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29395425-29395475	T-47D	breast:	n/a
2	chr6:29395425-29395475	T-47D	breast:	n/a
3	chr6:29395421-29395471	HCT-116	colon:	n/a
4	chr6:29396270-29396320	AG09309	skin:	n/a
5	chr6:29395657-29395707	CMK	blood:	n/a
6	chr6:29395394-29395444	HMEC	breast:	n/a
7	chr6:29395657-29395707	GM12891	blood:	n/a
8	chr6:29395425-29395475	PrEC	prostate:	n/a
9	chr6:29395394-29395444	LNCaP	prostate:	n/a
10	chr6:29395394-29395444	Hela-S3	cervix:	n/a
11	chr6:29395421-29395471	Caco-2	colon:	n/a
12	chr6:29396270-29396320	NHBE	bronchial:	n/a
13	chr6:29395657-29395707	HepG2	liver:	n/a
14	chr6:29395425-29395475	AG09319	gingival:	n/a
15	chr6:29395950-29396000	NHBE	bronchial:	n/a
16	chr6:29395657-29395707	U87	brain:	n/a
17	chr6:29395394-29395444	NHBE	bronchial:	n/a
18	chr6:29395394-29395444	HEK293	kidney:	embryo
19	chr6:29395394-29395444	HRPEpiC	eye:	n/a
20	chr6:29395950-29396000	HCT-116	colon:	n/a
21	chr6:29395425-29395475	Hela-S3	cervix:	n/a
22	chr6:29396270-29396320	GM12878	blood:	n/a
23	chr6:29395950-29396000	BE2_C	brain:	n/a
24	chr6:29395657-29395707	GM12892	blood:	n/a
25	chr6:29395950-29396000	HCM	heart:	n/a
26	chr6:29396182-29396232	Hepatocyte	liver:	n/a
27	chr6:29395394-29395444	NT2-D1	testis:	n/a
28	chr6:29395950-29396000	HEK293	kidney:	embryo
29	chr6:29395657-29395707	HRE	kidney:	n/a
30	chr6:29396270-29396320	HCM	heart:	n/a
31	chr6:29396270-29396320	GM06990	blood:	n/a
32	chr6:29396270-29396320	HepG2	liver:	n/a
33	chr6:29395421-29395471	HMEC	breast:	n/a
34	chr6:29395421-29395471	AG04449	skin:	fetal
35	chr6:29396182-29396232	MCF-7	breast:	n/a
36	chr6:29396182-29396232	HRE	kidney:	n/a
37	chr6:29395394-29395444	HCT-116	colon:	n/a
38	chr6:29396270-29396320	BE2_C	brain:	n/a
39	chr6:29396182-29396232	HCM	heart:	n/a
40	chr6:29395657-29395707	ProgFib	skin:	n/a
41	chr6:29395394-29395444	SAEC	small airway:	n/a
42	chr6:29395657-29395707	HCF	heart:	n/a
43	chr6:29395657-29395707	HIPEpiC	eye:	n/a
44	chr6:29395394-29395444	A549	lung:	n/a
45	chr6:29396182-29396232	NB4	blood:	n/a
46	chr6:29395950-29396000	HCPEpiC	choroid plexus:	n/a
47	chr6:29395950-29396000	AG04450	lung:	fetal
48	chr6:29396270-29396320	HUVEC	blood vessel:	n/a
49	chr6:29396182-29396232	HEEpiC	esophagus:	n/a
50	chr6:29395421-29395471	GM12891	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAS1L-3	chr6:29395420-29395509	NONHSAT108518
2	lnc-MAS1L-3	chr6:29395992-29396243	NONHSAT108518

No data

Variant related genes	Relation type
OR5V1	TF binding region
OR10C1	TF binding region
OR11A1	TF binding region
OR5V1	CpG island
OR10C1	CpG island
OR11A1	CpG island

Extended variants
information (count: 157 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146430448	chr6:29395366-29395367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141095360	chr6:29395395-29395396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180791424	chr6:29395413-29395414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371126300	chr6:29395421-29395422	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs112531151	chr6:29395425-29395426	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs567315371	chr6:29395450-29395451	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs535976602	chr6:29395455-29395456	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs374276438	chr6:29395484-29395485	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs187626834	chr6:29395495-29395496	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs16894900	chr6:29395499-29395500	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535010769	chr6:29395500-29395501	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs191855134	chr6:29395505-29395506	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs578201513	chr6:29395517-29395518	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs181615749	chr6:29395567-29395568	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs200112916	chr6:29395592-29395593	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs116937167	chr6:29395622-29395623	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs573871585	chr6:29395657-29395658	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs185672852	chr6:29395737-29395738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7770592	chr6:29395747-29395748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs369076679	chr6:29395764-29395765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16894902	chr6:29395912-29395913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs116703511	chr6:29395919-29395920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111422349	chr6:29395942-29395943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116848652	chr6:29395950-29395951	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs190132708	chr6:29395990-29395991	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs546288583	chr6:29396015-29396016	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs561166318	chr6:29396055-29396056	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs529900532	chr6:29396073-29396074	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs9393960	chr6:29396102-29396103	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs372191950	chr6:29396104-29396105	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs566179041	chr6:29396130-29396131	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs146744437	chr6:29396142-29396143	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs551766279	chr6:29396152-29396153	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs182671980	chr6:29396168-29396169	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs187962848	chr6:29396213-29396214	Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs7757269	chr6:29396217-29396218	Weak transcription	CpG island lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567560009	chr6:29396243-29396244	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs536444253	chr6:29396282-29396283	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs540596176	chr6:29396303-29396304	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs553104618	chr6:29396314-29396315	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs145420165	chr6:29396364-29396365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200732448	chr6:29396376-29396377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9461523	chr6:29396388-29396389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140421640	chr6:29396395-29396396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544743991	chr6:29396402-29396403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144187090	chr6:29396451-29396452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191137618	chr6:29396520-29396521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570876543	chr6:29396534-29396535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544531632	chr6:29396574-29396575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372384679	chr6:29396634-29396635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Schizophrenia	23813976	CNVD
Melanoma	17363583	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29392600-29399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:29399800-29400000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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