Variant report

Variant	nsv601224
Chromosome Location	chr6:29344704-29356587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:29351426-29351582	HepG2	liver:	n/a	n/a
2	CTCF	chr6:29347431-29347509	Fibrobl	skin:	n/a	n/a
3	E2F6	chr6:29347309-29347764	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOS	chr6:29349830-29350133	HUVEC	blood vessel:	n/a	n/a
5	KAP1	chr6:29349550-29349918	K562	blood:	n/a	n/a
6	MAFK	chr6:29347045-29347202	HepG2	liver:	n/a	n/a
7	MYC	chr6:29352152-29352295	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr6:29347423-29347515	MCF-7	breast:	n/a	n/a
9	MYC	chr6:29347403-29347505	MCF-7	breast:	n/a	n/a
10	STAT3	chr6:29356437-29356648	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29354997-29355047	AG09309	skin:	n/a
2	chr6:29354997-29355047	H1-hESC	embryonic stem cell:	embryo
3	chr6:29354997-29355047	RPTEC	kidney:	n/a
4	chr6:29354997-29355047	PFSK-1	brain:	n/a
5	chr6:29354997-29355047	GM12892	blood:	n/a
6	chr6:29354997-29355047	HUVEC	blood vessel:	n/a
7	chr6:29354997-29355047	ECC-1	luminal epithelium:	n/a
8	chr6:29354997-29355047	HRE	kidney:	n/a
9	chr6:29354997-29355047	HAEpiC	amniotic membrane:	n/a
10	chr6:29354997-29355047	HL-60	blood:	n/a
11	chr6:29354997-29355047	GM12878	blood:	n/a
12	chr6:29354997-29355047	U87	brain:	n/a
13	chr6:29354997-29355047	HCPEpiC	choroid plexus:	n/a
14	chr6:29354997-29355047	AoSMC	blood vessel:	n/a
15	chr6:29354997-29355047	SK-N-MC	brain:	n/a
16	chr6:29354997-29355047	NHBE	bronchial:	n/a
17	chr6:29354997-29355047	PANC-1	pancreas:	n/a
18	chr6:29354997-29355047	Hela-S3	cervix:	n/a
19	chr6:29354997-29355047	BJ	skin:	n/a
20	chr6:29354997-29355047	IMR90	lung:	fetal
21	chr6:29354997-29355047	HPAEpiC	pulmonary alveolar:	n/a
22	chr6:29354997-29355047	Caco-2	colon:	n/a
23	chr6:29354997-29355047	ProgFib	skin:	n/a
24	chr6:29354997-29355047	A549	lung:	n/a
25	chr6:29354997-29355047	BE2_C	brain:	n/a
26	chr6:29354997-29355047	LNCaP	prostate:	n/a
27	chr6:29354997-29355047	T-47D	breast:	n/a
28	chr6:29354997-29355047	AG04450	lung:	fetal
29	chr6:29354997-29355047	GM19239	blood:	n/a
30	chr6:29354997-29355047	NT2-D1	testis:	n/a
31	chr6:29354997-29355047	K562	blood:	n/a
32	chr6:29354997-29355047	AG09319	gingival:	n/a
33	chr6:29354997-29355047	HRPEpiC	eye:	n/a
34	chr6:29354997-29355047	HCF	heart:	n/a
35	chr6:29354997-29355047	SK-N-SH_RA	brain:	n/a
36	chr6:29354997-29355047	HIPEpiC	eye:	n/a
37	chr6:29354997-29355047	ovcar-3	ovarian:	n/a
38	chr6:29354997-29355047	HNPCEpiC	eye:	n/a
39	chr6:29354997-29355047	GM06990	blood:	n/a
40	chr6:29354997-29355047	HRCEpiC	kidney:	n/a
41	chr6:29354997-29355047	HCT-116	colon:	n/a
42	chr6:29354997-29355047	GM12891	blood:	n/a
43	chr6:29354997-29355047	HEEpiC	esophagus:	n/a
44	chr6:29354997-29355047	CMK	blood:	n/a
45	chr6:29354997-29355047	NH-A	brain:	n/a
46	chr6:29354997-29355047	Jurkat	blood:	n/a
47	chr6:29354997-29355047	SKMC	muscle:	n/a
48	chr6:29354997-29355047	SK-N-SH	brain:	n/a
49	chr6:29354997-29355047	MCF-7	breast:	n/a
50	chr6:29354997-29355047	PrEC	prostate:	n/a

No data

Variant related genes	Relation type
OR12D3	TF binding region
OR12D3	CpG island

Extended variants
information (count: 44 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191712884	chr6:29347049-29347050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs182669544	chr6:29347097-29347098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs16894798	chr6:29347122-29347123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs373161978	chr6:29347151-29347152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs532404829	chr6:29347185-29347186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs552516256	chr6:29347188-29347189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs533682451	chr6:29347334-29347335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs191381079	chr6:29347337-29347338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs184406217	chr6:29347398-29347399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs376114277	chr6:29347406-29347407	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs556106047	chr6:29347454-29347455	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs190447781	chr6:29347465-29347466	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs9257806	chr6:29347541-29347542	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73744660	chr6:29347581-29347582	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73409596	chr6:29347591-29347592	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541180159	chr6:29347729-29347730	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs142387265	chr6:29347736-29347737	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376295221	chr6:29347773-29347774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72831417	chr6:29347791-29347792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370332999	chr6:29347814-29347815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151303653	chr6:29347976-29347977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562880643	chr6:29347985-29347986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531961503	chr6:29348023-29348024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548465911	chr6:29348041-29348042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562006524	chr6:29348073-29348074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3117441	chr6:29348074-29348075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs547547806	chr6:29348082-29348083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193224948	chr6:29348110-29348111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185178051	chr6:29348129-29348130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190403719	chr6:29348131-29348132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181594132	chr6:29348171-29348172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140681438	chr6:29348185-29348186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564388800	chr6:29348230-29348231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185813836	chr6:29348233-29348234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548540483	chr6:29348241-29348242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28383942	chr6:29348255-29348256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145876412	chr6:29348274-29348275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528558713	chr6:29348276-29348277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3129688	chr6:29348297-29348298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs146648768	chr6:29348350-29348351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188627379	chr6:29348367-29348368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs3094550	chr6:29354809-29354810	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs567841885	chr6:29354863-29354864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184554772	chr6:29354969-29354970	Enhancers	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
Schizophrenia	23813976	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29347400-29348400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:29347600-29348000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:29354800-29355000	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links