Variant report

Variant	nsv7906
Chromosome Location	chr6:58243673-58270073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr6:58245996-58246178	GM12878	blood:	n/a	n/a
2	CEBPB	chr6:58262093-58262326	K562	blood:	n/a	n/a
3	CEBPB	chr6:58262027-58262420	K562	blood:	n/a	n/a
4	CTCF	chr6:58262100-58262250	GM12875	blood:	n/a	n/a
5	CTCF	chr6:58261871-58262335	K562	blood:	n/a	n/a
6	CTCF	chr6:58269917-58269948	Lung_OC	lung:	n/a	n/a
7	CTCF	chr6:58262040-58262190	HEK293	kidney:	n/a	n/a
8	CTCF	chr6:58256365-58256688	K562	blood:	n/a	n/a
9	CTCF	chr6:58256381-58256729	K562	blood:	n/a	n/a
10	CTCF	chr6:58261965-58262278	K562	blood:	n/a	n/a
11	CTCF	chr6:58262020-58262170	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr6:58261980-58262273	K562	blood:	n/a	n/a
13	CTCF	chr6:58262080-58262230	GM12871	blood:	n/a	n/a
14	CTCF	chr6:58262080-58262230	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr6:58247497-58247717	GM12878	blood:	n/a	n/a
16	FOSL2	chr6:58246795-58247038	HepG2	liver:	n/a	n/a
17	FOXA1	chr6:58253287-58253443	T-47D	breast:	n/a	n/a
18	FOXA1	chr6:58257736-58258122	HepG2	liver:	n/a	n/a
19	FOXA2	chr6:58254029-58254447	A549	lung:	n/a	n/a
20	FOXP2	chr6:58254853-58255082	PFSK-1	brain:	n/a	n/a
21	GABPA	chr6:58255406-58255607	Hela-S3	cervix:	n/a	n/a
22	GABPA	chr6:58244567-58244734	GM12878	blood:	n/a	n/a
23	GABPA	chr6:58249919-58250153	Hela-S3	cervix:	n/a	n/a
24	GABPA	chr6:58246876-58247072	GM12878	blood:	n/a	n/a
25	GABPA	chr6:58244547-58244783	Hela-S3	cervix:	n/a	n/a
26	GABPA	chr6:58252772-58252994	Hela-S3	cervix:	n/a	n/a
27	GATA2	chr6:58268891-58269101	K562	blood:	n/a	n/a
28	GATA2	chr6:58243792-58244112	K562	blood:	n/a	n/a
29	IRF4	chr6:58246856-58247150	GM12878	blood:	n/a	n/a
30	JUND	chr6:58250610-58250784	HepG2	liver:	n/a	n/a
31	MAFK	chr6:58269299-58269466	HepG2	liver:	n/a	chr6:58269428-58269439 chr6:58269427-58269443 chr6:58269426-58269440 chr6:58269428-58269439 chr6:58269427-58269438 chr6:58269427-58269438
32	NR2F2	chr6:58262063-58262376	K562	blood:	n/a	n/a
33	PAX5	chr6:58259787-58260056	GM12878	blood:	n/a	n/a
34	PAX5	chr6:58246806-58247097	GM12878	blood:	n/a	n/a
35	PAX5	chr6:58251537-58251720	GM12878	blood:	n/a	n/a
36	PAX5	chr6:58246805-58247228	GM12878	blood:	n/a	n/a
37	PAX5	chr6:58249190-58249499	GM12878	blood:	n/a	n/a
38	PAX5	chr6:58252698-58253025	GM12878	blood:	n/a	n/a
39	PAX5	chr6:58254519-58254670	GM12878	blood:	n/a	n/a
40	PAX5	chr6:58246807-58247093	GM12878	blood:	n/a	n/a
41	PAX5	chr6:58246871-58247013	GM12878	blood:	n/a	n/a
42	PAX5	chr6:58260694-58260873	GM12878	blood:	n/a	n/a
43	PAX5	chr6:58255269-58255528	GM12878	blood:	n/a	n/a
44	PBX3	chr6:58265944-58266090	GM12878	blood:	n/a	n/a
45	PBX3	chr6:58257922-58258171	GM12878	blood:	n/a	n/a
46	PBX3	chr6:58266535-58266671	GM12878	blood:	n/a	n/a
47	POLR2A	chr6:58269884-58270713	GM12891	blood:	n/a	n/a
48	POLR2A	chr6:58255389-58255681	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:58260628-58260798	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr6:58248145-58248235	HUVEC	blood vessel:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:58263122-58263172	AG09309	skin:	n/a
2	chr6:58263122-58263172	Caco-2	colon:	n/a
3	chr6:58263193-58263243	A549	lung:	n/a
4	chr6:58263193-58263243	ECC-1	luminal epithelium:	n/a
5	chr6:58259157-58259207	HPAEpiC	pulmonary alveolar:	n/a
6	chr6:58263193-58263243	HCT-116	colon:	n/a
7	chr6:58263193-58263243	BJ	skin:	n/a
8	chr6:58263193-58263243	GM06990	blood:	n/a
9	chr6:58259157-58259207	HMEC	breast:	n/a
10	chr6:58259157-58259207	SK-N-MC	brain:	n/a
11	chr6:58263122-58263172	PrEC	prostate:	n/a
12	chr6:58263193-58263243	SK-N-MC	brain:	n/a
13	chr6:58259157-58259207	AoSMC	blood vessel:	n/a
14	chr6:58263193-58263243	HRE	kidney:	n/a
15	chr6:58263193-58263243	HCF	heart:	n/a
16	chr6:58263193-58263243	HCPEpiC	choroid plexus:	n/a
17	chr6:58259157-58259207	AG04450	lung:	fetal
18	chr6:58263193-58263243	HEEpiC	esophagus:	n/a
19	chr6:58263122-58263172	HCF	heart:	n/a
20	chr6:58263193-58263243	SAEC	small airway:	n/a
21	chr6:58259157-58259207	GM12878	blood:	n/a
22	chr6:58263193-58263243	SK-N-SH	brain:	n/a
23	chr6:58263122-58263172	CMK	blood:	n/a
24	chr6:58263122-58263172	SK-N-SH	brain:	n/a
25	chr6:58259157-58259207	GM19239	blood:	n/a
26	chr6:58263193-58263243	GM12892	blood:	n/a
27	chr6:58259157-58259207	HNPCEpiC	eye:	n/a
28	chr6:58263122-58263172	BE2_C	brain:	n/a
29	chr6:58263122-58263172	NT2-D1	testis:	n/a
30	chr6:58259157-58259207	HepG2	liver:	n/a
31	chr6:58263122-58263172	HIPEpiC	eye:	n/a
32	chr6:58259157-58259207	PrEC	prostate:	n/a
33	chr6:58263193-58263243	AG10803	skin:	n/a
34	chr6:58259157-58259207	CMK	blood:	n/a
35	chr6:58263122-58263172	GM12878	blood:	n/a
36	chr6:58259157-58259207	GM12891	blood:	n/a
37	chr6:58263193-58263243	CMK	blood:	n/a
38	chr6:58259157-58259207	HCPEpiC	choroid plexus:	n/a
39	chr6:58263193-58263243	ProgFib	skin:	n/a
40	chr6:58263122-58263172	AG10803	skin:	n/a
41	chr6:58263122-58263172	HRE	kidney:	n/a
42	chr6:58259157-58259207	Caco-2	colon:	n/a
43	chr6:58259157-58259207	AG09319	gingival:	n/a
44	chr6:58259157-58259207	HRCEpiC	kidney:	n/a
45	chr6:58259157-58259207	NT2-D1	testis:	n/a
46	chr6:58259157-58259207	NHDF-neo	bronchial:	n/a
47	chr6:58259157-58259207	AG09309	skin:	n/a
48	chr6:58259157-58259207	A549	lung:	n/a
49	chr6:58263122-58263172	K562	blood:	n/a
50	chr6:58259157-58259207	SKMC	muscle:	n/a

No data

Variant related genes	Relation type
ENSG00000272316	TF binding region
GUSBP4	TF binding region
POM121L14P	TF binding region
ENSG00000272316	CpG island
GUSBP4	CpG island
POM121L14P	CpG island

Extended variants
information (count: 986 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:986 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201200114	chr6:58243888-58243889	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs373023946	chr6:58243956-58243957	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs532887175	chr6:58243969-58243970	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs6918568	chr6:58244014-58244015	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
5	rs577706874	chr6:58244073-58244074	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs533969216	chr6:58244095-58244096	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs62414342	chr6:58244183-58244184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548615198	chr6:58244293-58244294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570071169	chr6:58244297-58244298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200933807	chr6:58244319-58244320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549743721	chr6:58244367-58244368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553904046	chr6:58244390-58244391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145987649	chr6:58244407-58244408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139920704	chr6:58244420-58244421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141322775	chr6:58244467-58244468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150802790	chr6:58244468-58244469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374371463	chr6:58244469-58244470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7771277	chr6:58244477-58244478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576093544	chr6:58244506-58244507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139022318	chr6:58244517-58244518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190201196	chr6:58244548-58244549	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs542575071	chr6:58244562-58244563	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs562759371	chr6:58244577-58244578	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs149885373	chr6:58244587-58244588	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs367983176	chr6:58244646-58244647	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs371754838	chr6:58244648-58244649	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs58735663	chr6:58244708-58244709	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs560089107	chr6:58244712-58244713	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs574855200	chr6:58244752-58244753	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs541871229	chr6:58244808-58244809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563785968	chr6:58244824-58244825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181380339	chr6:58244954-58244955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545182740	chr6:58244956-58244957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565010639	chr6:58245057-58245058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185234974	chr6:58245075-58245076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549944842	chr6:58245113-58245114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564778125	chr6:58245137-58245138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532178975	chr6:58245165-58245166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527365318	chr6:58245202-58245203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565653644	chr6:58245279-58245280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536230672	chr6:58245304-58245305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12193926	chr6:58245319-58245320	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569732644	chr6:58245414-58245415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200217960	chr6:58245415-58245416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536789935	chr6:58245433-58245434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189944835	chr6:58245474-58245475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147707356	chr6:58245543-58245544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535251700	chr6:58245640-58245641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553666516	chr6:58245652-58245653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560887604	chr6:58245855-58245856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58237800-58245200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:58237800-58253400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:58238000-58245000	Weak transcription	Fetal Stomach	stomach
4	chr6:58238000-58252600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:58238000-58252800	Weak transcription	Fetal Intestine Large	intestine
6	chr6:58240800-58245800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:58243000-58250200	Weak transcription	Liver	Liver
8	chr6:58243000-58272800	Weak transcription	Fetal Intestine Small	intestine
9	chr6:58243800-58246000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:58243800-58250400	Weak transcription	Primary T cells from cord blood	blood
11	chr6:58243800-58252800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:58243800-58254400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr6:58244000-58248600	Weak transcription	Adipose Nuclei	Adipose
14	chr6:58244000-58248600	Weak transcription	Lung	lung
15	chr6:58244000-58249000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:58244000-58250000	Weak transcription	Spleen	Spleen
17	chr6:58244000-58250200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:58244000-58250200	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:58244000-58250200	Weak transcription	Ovary	ovary
20	chr6:58244000-58250400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:58244000-58250400	Weak transcription	Fetal Lung	lung
22	chr6:58244000-58252600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:58244000-58252800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:58244000-58252800	Weak transcription	Thymus	Thymus
25	chr6:58244000-58253000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:58244000-58254600	Weak transcription	Brain Anterior Caudate	brain
27	chr6:58244000-58258600	Weak transcription	Pancreas	Pancrea
28	chr6:58244000-58272400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:58244200-58252400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr6:58244200-58287200	Weak transcription	Right Ventricle	heart
31	chr6:58244400-58272600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:58244600-58247000	Weak transcription	Osteobl	bone
33	chr6:58244600-58249800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:58244600-58250200	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:58244600-58252600	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:58244600-58253000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr6:58244600-58254400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:58244600-58255400	Weak transcription	Brain Germinal Matrix	brain
39	chr6:58244800-58273000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:58245000-58245800	Strong transcription	Fetal Stomach	stomach
41	chr6:58245200-58245600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:58245600-58253000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:58245800-58246400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:58245800-58246600	Weak transcription	Fetal Stomach	stomach
45	chr6:58245800-58247400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:58245800-58248400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:58245800-58248800	Weak transcription	HSMMtube	muscle
48	chr6:58245800-58249000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:58245800-58253200	Weak transcription	Esophagus	oesophagus
50	chr6:58245800-58261800	Weak transcription	Aorta	Aorta

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