Variant report

Variant	nsv8002
Chromosome Location	chr6:167796157-167808294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:132)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:132 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:167801477-167801674	GM12878	blood:	n/a	n/a
2	BCL11A	chr6:167801472-167801775	GM12878	blood:	n/a	n/a
3	BCL11A	chr6:167801474-167801790	GM12878	blood:	n/a	n/a
4	BCL11A	chr6:167800632-167800815	GM12878	blood:	n/a	n/a
5	BCL11A	chr6:167799353-167799569	GM12878	blood:	n/a	n/a
6	BCL11A	chr6:167801917-167802109	GM12878	blood:	n/a	n/a
7	CBX3	chr6:167800537-167800803	K562	blood:	n/a	n/a
8	CHD1	chr6:167807154-167807163	GM12878	blood:	n/a	n/a
9	CTCF	chr6:167802765-167802797	Lung_OC	lung:	n/a	n/a
10	CTCF	chr6:167806024-167806089	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr6:167805791-167805876	Lung_OC	lung:	n/a	n/a
12	CTCF	chr6:167803194-167803223	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr6:167803421-167803496	GM10248	blood:	n/a	n/a
14	EBF1	chr6:167799317-167799670	GM12878	blood:	n/a	n/a
15	EBF1	chr6:167800374-167800567	GM12878	blood:	n/a	n/a
16	EBF1	chr6:167801477-167801660	GM12878	blood:	n/a	n/a
17	EBF1	chr6:167800633-167800823	GM12878	blood:	n/a	n/a
18	EP300	chr6:167799436-167799593	GM12878	blood:	n/a	n/a
19	EP300	chr6:167801907-167802072	GM12878	blood:	n/a	n/a
20	EP300	chr6:167800291-167802181	GM12878	blood:	n/a	n/a
21	EP300	chr6:167799221-167799724	GM12878	blood:	n/a	n/a
22	EP300	chr6:167801483-167801753	GM12878	blood:	n/a	n/a
23	FOSL2	chr6:167799201-167799903	HepG2	liver:	n/a	n/a
24	FOSL2	chr6:167799990-167802190	HepG2	liver:	n/a	n/a
25	FOSL2	chr6:167801435-167801780	HepG2	liver:	n/a	n/a
26	FOSL2	chr6:167799343-167799781	HepG2	liver:	n/a	n/a
27	GATA2	chr6:167801141-167801746	K562	blood:	n/a	n/a
28	GATA2	chr6:167799305-167799604	K562	blood:	n/a	n/a
29	GATA2	chr6:167801829-167802081	K562	blood:	n/a	n/a
30	GATA2	chr6:167800336-167801088	K562	blood:	n/a	n/a
31	IRF4	chr6:167801363-167802115	GM12878	blood:	n/a	n/a
32	IRF4	chr6:167800250-167801181	GM12878	blood:	n/a	n/a
33	IRF4	chr6:167799180-167799764	GM12878	blood:	n/a	n/a
34	IRF4	chr6:167800248-167802238	GM12878	blood:	n/a	n/a
35	IRF4	chr6:167799155-167799811	GM12878	blood:	n/a	n/a
36	JUND	chr6:167800001-167800165	HepG2	liver:	n/a	n/a
37	JUND	chr6:167800594-167800754	HepG2	liver:	n/a	n/a
38	JUND	chr6:167800308-167802241	HepG2	liver:	n/a	n/a
39	JUND	chr6:167799388-167799609	HepG2	liver:	n/a	n/a
40	JUND	chr6:167801970-167802128	HepG2	liver:	n/a	n/a
41	JUND	chr6:167799232-167799833	HepG2	liver:	n/a	n/a
42	PAX5	chr6:167800291-167802345	GM12878	blood:	n/a	n/a
43	PAX5	chr6:167799251-167799671	GM12878	blood:	n/a	n/a
44	PAX5	chr6:167801337-167801759	GM12878	blood:	n/a	n/a
45	PAX5	chr6:167799252-167799665	GM12878	blood:	n/a	n/a
46	PAX5	chr6:167799951-167802295	GM12878	blood:	n/a	n/a
47	PAX5	chr6:167799206-167799795	GM12878	blood:	n/a	n/a
48	PAX5	chr6:167800036-167800225	GM12878	blood:	n/a	n/a
49	PAX5	chr6:167800294-167800874	GM12878	blood:	n/a	n/a
50	PBX3	chr6:167803634-167803926	GM12878	blood:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:167798410-167798460	AG04450	lung:	fetal
2	chr6:167798410-167798460	AG04450	lung:	fetal
3	chr6:167798410-167798460	NH-A	brain:	n/a
4	chr6:167803413-167803463	SAEC	small airway:	n/a
5	chr6:167797877-167797927	MCF10A-Er-Src	breast:	n/a
6	chr6:167797877-167797927	NHBE	bronchial:	n/a
7	chr6:167803413-167803463	HCM	heart:	n/a
8	chr6:167797877-167797927	PrEC	prostate:	n/a
9	chr6:167798410-167798460	U87	brain:	n/a
10	chr6:167803413-167803463	AG09319	gingival:	n/a
11	chr6:167797877-167797927	HNPCEpiC	eye:	n/a
12	chr6:167803413-167803463	ECC-1	luminal epithelium:	n/a
13	chr6:167803413-167803463	GM12878	blood:	n/a
14	chr6:167797877-167797927	CMK	blood:	n/a
15	chr6:167797877-167797927	HRCEpiC	kidney:	n/a
16	chr6:167798410-167798460	HepG2	liver:	n/a
17	chr6:167798410-167798460	AG09319	gingival:	n/a
18	chr6:167803413-167803463	SK-N-SH_RA	brain:	n/a
19	chr6:167798410-167798460	ovcar-3	ovarian:	n/a
20	chr6:167803413-167803463	HCPEpiC	choroid plexus:	n/a
21	chr6:167797877-167797927	RPTEC	kidney:	n/a
22	chr6:167797877-167797927	HCF	heart:	n/a
23	chr6:167798410-167798460	GM12878	blood:	n/a
24	chr6:167797877-167797927	AG04449	skin:	fetal
25	chr6:167803413-167803463	PrEC	prostate:	n/a
26	chr6:167803413-167803463	HepG2	liver:	n/a
27	chr6:167797877-167797927	AG10803	skin:	n/a
28	chr6:167803413-167803463	AG09309	skin:	n/a
29	chr6:167797877-167797927	HEEpiC	esophagus:	n/a
30	chr6:167803413-167803463	HIPEpiC	eye:	n/a
31	chr6:167803413-167803463	H1-hESC	embryonic stem cell:	embryo
32	chr6:167803413-167803463	GM12891	blood:	n/a
33	chr6:167803413-167803463	HPAEpiC	pulmonary alveolar:	n/a
34	chr6:167797877-167797927	BJ	skin:	n/a
35	chr6:167803413-167803463	AG10803	skin:	n/a
36	chr6:167797877-167797927	GM12892	blood:	n/a
37	chr6:167798410-167798460	PANC-1	pancreas:	n/a
38	chr6:167803413-167803463	SK-N-MC	brain:	n/a
39	chr6:167798410-167798460	ProgFib	skin:	n/a
40	chr6:167797877-167797927	GM12891	blood:	n/a
41	chr6:167797877-167797927	SK-N-SH_RA	brain:	n/a
42	chr6:167798410-167798460	HNPCEpiC	eye:	n/a
43	chr6:167803413-167803463	HCF	heart:	n/a
44	chr6:167798410-167798460	HCM	heart:	n/a
45	chr6:167798410-167798460	AG10803	skin:	n/a
46	chr6:167797877-167797927	IMR90	lung:	fetal
47	chr6:167803413-167803463	HEEpiC	esophagus:	n/a
48	chr6:167798410-167798460	RPTEC	kidney:	n/a
49	chr6:167798410-167798460	BE2_C	brain:	n/a
50	chr6:167798410-167798460	HCPEpiC	choroid plexus:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTLL2-1	chr6:167803650-167803969	XLOC_005541
2	lnc-TTLL2-1	chr6:167804760-167804979	XLOC_005541

No data

Variant related genes	Relation type
TCP10	TF binding region
TCP10	CpG island

Extended variants
information (count: 420 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559125300	chr6:167796200-167796201	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs574614347	chr6:167796212-167796213	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs535298253	chr6:167796237-167796238	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs375305438	chr6:167796249-167796250	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs556969227	chr6:167796258-167796259	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs191783974	chr6:167796266-167796267	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs72578726	chr6:167796280-167796281	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144710252	chr6:167796300-167796301	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs17855834	chr6:167796309-167796310	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs17855833	chr6:167796319-167796320	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562134831	chr6:167796320-167796321	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs529449130	chr6:167796326-167796327	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs374093482	chr6:167796337-167796338	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs146766441	chr6:167796338-167796339	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs369651203	chr6:167796377-167796378	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs373248356	chr6:167796378-167796379	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs533483130	chr6:167796381-167796382	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs376511046	chr6:167796383-167796384	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs183310032	chr6:167796389-167796390	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs370130910	chr6:167796398-167796399	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs560287849	chr6:167797878-167797879	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs529325286	chr6:167797909-167797910	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs527455415	chr6:167797913-167797914	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs116835190	chr6:167798410-167798411	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs183757827	chr6:167798416-167798417	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs201043341	chr6:167798420-167798421	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs553738544	chr6:167798468-167798469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs368663159	chr6:167798694-167798695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs572318392	chr6:167798706-167798707	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs535026507	chr6:167798709-167798710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs112810276	chr6:167798716-167798717	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs2989533	chr6:167798724-167798725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs28504172	chr6:167798726-167798727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs199527103	chr6:167798734-167798735	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs575390576	chr6:167798737-167798738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs143478123	chr6:167798745-167798746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs142007483	chr6:167799121-167799122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs368180587	chr6:167799131-167799132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs547392081	chr6:167799132-167799133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201012264	chr6:167799133-167799134	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs566209066	chr6:167799146-167799147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs142053059	chr6:167799161-167799162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs374081027	chr6:167799197-167799198	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs548473682	chr6:167799216-167799217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs528572288	chr6:167799247-167799248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs181994829	chr6:167799266-167799267	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs370689273	chr6:167799273-167799274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201895122	chr6:167799281-167799282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs200098248	chr6:167799299-167799300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs62647357	chr6:167799307-167799308	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167796200-167796400	Bivalent Enhancer	HepG2	liver
2	chr6:167807200-167807400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:167807200-167807600	Enhancers	Rectal Smooth Muscle	rectum
4	chr6:167807400-167807600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:167807400-167809600	Bivalent Enhancer	HepG2	liver
6	chr6:167807600-167814400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:167808200-167808400	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links