Variant report

Variant	nsv984223
Chromosome Location	chr15:42981483-42984437
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr15:42983644-42983687	K562	blood:	n/a	n/a
2	MAX	chr15:42983218-42983999	NB4	blood:	n/a	n/a
3	MAZ	chr15:42983696-42983725	K562	blood:	n/a	n/a
4	MYC	chr15:42983271-42983949	NB4	blood:	n/a	n/a
5	MYC	chr15:42984190-42984257	MCF-7	breast:	n/a	n/a
6	MYC	chr15:42982908-42982976	H1-hESC	embryonic stem cell:	n/a	n/a
7	RCOR1	chr15:42983467-42983760	K562	blood:	n/a	n/a
8	UBTF	chr15:42983686-42983766	K562	blood:	n/a	n/a
9	UBTF	chr15:42983627-42983684	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:42980964..42982902-chr15:42984306..42986135,2	K562	blood:
2	chr15:42983549..42985784-chr15:42989459..42991340,2	K562	blood:
3	chr15:42983652..42985690-chr15:42986702..42989327,2	K562	blood:
4	chr15:42967308..42970278-chr15:42981149..42982877,2	K562	blood:
5	chr15:42972306..42975288-chr15:42982753..42985416,2	K562	blood:

No data

Variant related genes	Relation type
STARD9	TF binding region
ENSG00000159433	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35010739	chr15:42981529-42981530	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113194001	chr15:42981563-42981564	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372746010	chr15:42981639-42981640	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139555990	chr15:42981641-42981642	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550098890	chr15:42981659-42981660	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569268708	chr15:42981662-42981663	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572122353	chr15:42981744-42981745	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531774911	chr15:42981772-42981773	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548681289	chr15:42981780-42981781	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs8030587	chr15:42981806-42981807	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs534295816	chr15:42981808-42981809	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554023661	chr15:42981809-42981810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561253293	chr15:42981831-42981832	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571069584	chr15:42981832-42981833	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539735346	chr15:42981911-42981912	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563500037	chr15:42981947-42981948	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556850420	chr15:42981950-42981951	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188584454	chr15:42981964-42981965	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs61218673	chr15:42981978-42981979	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554958937	chr15:42981994-42981995	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79955702	chr15:42982004-42982005	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571769868	chr15:42982049-42982050	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541125477	chr15:42982051-42982052	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs181378780	chr15:42982077-42982078	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs202077402	chr15:42982090-42982091	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530613898	chr15:42982113-42982114	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs77096807	chr15:42982124-42982125	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs114877303	chr15:42982143-42982144	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548560772	chr15:42982221-42982222	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568464681	chr15:42982236-42982237	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201340789	chr15:42982237-42982238	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149726667	chr15:42982270-42982271	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570939897	chr15:42982275-42982276	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368499072	chr15:42982281-42982282	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185165874	chr15:42982303-42982304	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34195841	chr15:42982336-42982337	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs8031218	chr15:42982340-42982341	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs569980761	chr15:42982349-42982350	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535756128	chr15:42982357-42982358	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs11857283	chr15:42982381-42982382	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs145239633	chr15:42982455-42982456	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374469546	chr15:42982489-42982490	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571755992	chr15:42982494-42982495	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534412465	chr15:42982495-42982496	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368173417	chr15:42982555-42982556	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557870462	chr15:42982559-42982560	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201158158	chr15:42982579-42982580	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372616226	chr15:42982583-42982584	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552485294	chr15:42982602-42982603	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563479866	chr15:42982632-42982633	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
2	chr15:42949800-42999200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr15:42950400-42990200	Strong transcription	Fetal Stomach	stomach
4	chr15:42951000-42995000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr15:42952600-42995600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:42952800-42996000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:42953400-42992200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:42954600-42986200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr15:42954800-42983000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:42955000-42990200	Strong transcription	Fetal Muscle Leg	muscle
11	chr15:42960000-42981800	Strong transcription	Primary T cells from cord blood	blood
12	chr15:42961200-42989200	Strong transcription	Ovary	ovary
13	chr15:42961400-42990800	Strong transcription	Colon Smooth Muscle	Colon
14	chr15:42961600-42989200	Weak transcription	Pancreas	Pancrea
15	chr15:42964200-42982400	Weak transcription	A549	lung
16	chr15:42965000-42982200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:42966000-42992800	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr15:42966400-42988400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:42966400-42988600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:42966600-42982400	Strong transcription	Fetal Brain Female	brain
21	chr15:42966600-42982800	Strong transcription	Primary hematopoietic stem cells	blood
22	chr15:42966600-42988000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:42966600-42989200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:42966800-42987600	Strong transcription	Aorta	Aorta
25	chr15:42968400-42992200	Weak transcription	Fetal Brain Male	brain
26	chr15:42968600-42996800	Weak transcription	Liver	Liver
27	chr15:42968600-42999000	Weak transcription	HUVEC	blood vessel
28	chr15:42969400-42988400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:42970200-42983400	Weak transcription	K562	blood
30	chr15:42970600-42990200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:42970800-42986200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr15:42971400-42992600	Strong transcription	Adipose Nuclei	Adipose
33	chr15:42971600-42992400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:42972600-42983600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr15:42973200-42985600	Strong transcription	Rectal Smooth Muscle	rectum
36	chr15:42973200-42991200	Strong transcription	Brain Germinal Matrix	brain
37	chr15:42973400-42987600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:42973600-42982200	Strong transcription	Right Ventricle	heart
39	chr15:42973600-42988400	Strong transcription	Lung	lung
40	chr15:42973600-42989000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:42973600-42992600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:42974000-42982200	Strong transcription	Brain Hippocampus Middle	brain
43	chr15:42974400-42989200	Strong transcription	Left Ventricle	heart
44	chr15:42975200-42983000	Weak transcription	Fetal Thymus	thymus
45	chr15:42975200-42983000	Weak transcription	HSMMtube	muscle
46	chr15:42975200-42984200	Weak transcription	Colonic Mucosa	Colon
47	chr15:42975600-43011400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:42975800-42981600	Strong transcription	NHDF-Ad	bronchial
49	chr15:42976400-42982400	Strong transcription	Placenta	Placenta
50	chr15:42976600-42984600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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