Variant report

Variant	nsv984061
Chromosome Location	chr15:43407905-43410815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr15:43408197-43408404	HepG2	liver:	n/a	n/a
2	GABPA	chr15:43408635-43408720	HepG2	liver:	n/a	n/a
3	HEY1	chr15:43408581-43408746	HepG2	liver:	n/a	n/a
4	HEY1	chr15:43408551-43408829	K562	blood:	n/a	n/a
5	HEY1	chr15:43408566-43408746	K562	blood:	n/a	n/a
6	HEY1	chr15:43408545-43408764	HepG2	liver:	n/a	n/a
7	PAX5	chr15:43410558-43410792	GM12878	blood:	n/a	chr15:43410717-43410736
8	POLR2A	chr15:43408472-43408922	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:43408604-43408710	A549	lung:	n/a	n/a
10	POLR2A	chr15:43408562-43408748	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:43408561-43408752	GM12891	blood:	n/a	n/a
12	POLR2A	chr15:43408008-43408824	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr15:43408620-43408741	HepG2	liver:	n/a	n/a
14	POLR2A	chr15:43408587-43408722	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:43408556-43408754	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr15:43407894-43408097	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:43408539-43408732	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr15:43408569-43408738	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr15:43408577-43408724	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:43408597-43408718	A549	lung:	n/a	n/a
21	POLR2A	chr15:43408596-43408713	HepG2	liver:	n/a	n/a
22	POLR2A	chr15:43408536-43408774	GM12891	blood:	n/a	n/a
23	POLR2A	chr15:43408622-43408722	HepG2	liver:	n/a	n/a
24	POLR2A	chr15:43408598-43408712	A549	lung:	n/a	n/a
25	POLR2A	chr15:43408568-43408834	A549	lung:	n/a	n/a
26	POLR2A	chr15:43408581-43408730	H1-hESC	embryonic stem cell:	n/a	n/a
27	SPI1	chr15:43408630-43408726	K562	blood:	n/a	n/a
28	TAF1	chr15:43408565-43408748	Hela-S3	cervix:	n/a	n/a
29	TAF1	chr15:43408546-43408817	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr15:43408564-43408732	GM12892	blood:	n/a	n/a
31	TAF1	chr15:43408527-43408789	GM12878	blood:	n/a	n/a
32	TAF1	chr15:43408559-43408750	H1-hESC	embryonic stem cell:	n/a	n/a
33	TCF12	chr15:43408550-43408744	GM12878	blood:	n/a	n/a
34	ZBTB33	chr15:43407862-43408512	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:43410645..43412864-chr15:43425406..43427324,2	MCF-7	breast:
2	chr15:43409363..43412996-chr15:43414014..43416433,4	K562	blood:
3	chr15:43406517..43409330-chr15:43424584..43426379,2	MCF-7	breast:
4	chr15:43397447..43400554-chr15:43409058..43413462,5	K562	blood:
5	chr15:43397638..43400095-chr15:43409049..43412270,4	K562	blood:
6	chr15:43398177..43400764-chr15:43410402..43412286,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPS3AP47	TF binding region
TMEM62	TF binding region
ENSG00000159459	chromatin interactions
ENSG00000137842	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567215848	chr15:43407911-43407912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535877394	chr15:43408069-43408070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs199893480	chr15:43408070-43408071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566035889	chr15:43408119-43408120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534823321	chr15:43408171-43408172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs193162059	chr15:43408181-43408182	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs578219231	chr15:43408208-43408209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150142865	chr15:43408214-43408215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs28370445	chr15:43408231-43408232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557726088	chr15:43408233-43408234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565005895	chr15:43408242-43408243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184644138	chr15:43408256-43408257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568513192	chr15:43408277-43408278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374587107	chr15:43408302-43408303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532577525	chr15:43408309-43408310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs62019360	chr15:43408328-43408329	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs188613967	chr15:43408335-43408336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191837790	chr15:43408373-43408374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142803614	chr15:43408387-43408388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530660490	chr15:43408486-43408487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550345881	chr15:43408508-43408509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs58059509	chr15:43408510-43408511	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529964896	chr15:43408515-43408516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546838507	chr15:43408561-43408562	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs183565607	chr15:43408602-43408603	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs534970249	chr15:43408654-43408655	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551949832	chr15:43408655-43408656	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs188340272	chr15:43408662-43408663	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs371405619	chr15:43408663-43408664	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs557564816	chr15:43408671-43408672	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs182066227	chr15:43408686-43408687	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs536556229	chr15:43408687-43408688	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs185729184	chr15:43408720-43408721	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs548842385	chr15:43408773-43408774	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189806628	chr15:43408783-43408784	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs544981402	chr15:43408795-43408796	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555078708	chr15:43408803-43408804	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs113347137	chr15:43408804-43408805	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs182064495	chr15:43408825-43408826	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs375768987	chr15:43408830-43408831	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs139125410	chr15:43408834-43408835	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs536593315	chr15:43408845-43408846	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs59847353	chr15:43408877-43408878	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs553003189	chr15:43408943-43408944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529856039	chr15:43408974-43408975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559289779	chr15:43409036-43409037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs75506280	chr15:43409046-43409047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs143773426	chr15:43409098-43409099	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs560391776	chr15:43409252-43409253	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs185564192	chr15:43409259-43409260	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43402400-43415000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:43405200-43414400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr15:43409200-43410000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:43409200-43412200	Enhancers	Primary B cells from peripheral blood	blood
5	chr15:43409400-43409600	Enhancers	Osteobl	bone
6	chr15:43409600-43409800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr15:43409600-43409800	Flanking Active TSS	Osteobl	bone
8	chr15:43409600-43410000	Enhancers	Adipose Nuclei	Adipose
9	chr15:43409600-43410000	Enhancers	HepG2	liver
10	chr15:43409800-43414600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:43410000-43411400	Enhancers	Primary B cells from cord blood	blood
12	chr15:43410000-43414000	Weak transcription	HepG2	liver
13	chr15:43410000-43414400	Weak transcription	Adipose Nuclei	Adipose
14	chr15:43410000-43414800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:43410400-43410600	Enhancers	GM12878-XiMat	blood
16	chr15:43410400-43411200	Enhancers	Colon Smooth Muscle	Colon
17	chr15:43410600-43411000	Flanking Active TSS	GM12878-XiMat	blood
18	chr15:43410600-43411200	Enhancers	Rectal Smooth Muscle	rectum
19	chr15:43410800-43411400	Enhancers	K562	blood

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