Variant report

Variant	nsv977853
Chromosome Location	chr15:44672110-44694938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:44677230-44677411	K562	blood:	n/a	n/a
2	ATF2	chr15:44677174-44677854	GM12878	blood:	n/a	n/a
3	ATF2	chr15:44677030-44677438	GM12878	blood:	n/a	n/a
4	BACH1	chr15:44677223-44677573	K562	blood:	n/a	n/a
5	BACH1	chr15:44677390-44677496	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr15:44677259-44677509	GM12878	blood:	n/a	chr15:44677404-44677415
7	BATF	chr15:44677285-44677584	GM12878	blood:	n/a	chr15:44677404-44677415
8	BCL11A	chr15:44677234-44677511	GM12878	blood:	n/a	n/a
9	BCLAF1	chr15:44677158-44677627	GM12878	blood:	n/a	n/a
10	BHLHE40	chr15:44685862-44685951	K562	blood:	n/a	n/a
11	CEBPB	chr15:44686308-44686680	HepG2	liver:	n/a	chr15:44686490-44686501
12	CEBPB	chr15:44685723-44686118	K562	blood:	n/a	chr15:44685945-44685956
13	CEBPB	chr15:44685868-44686002	A549	lung:	n/a	chr15:44685945-44685956
14	CEBPB	chr15:44686316-44686686	IMR90	lung:	n/a	chr15:44686490-44686501
15	CEBPB	chr15:44686352-44686663	HepG2	liver:	n/a	chr15:44686490-44686501
16	CEBPB	chr15:44686349-44686559	HepG2	liver:	n/a	chr15:44686490-44686501
17	CEBPB	chr15:44680210-44680245	K562	blood:	n/a	n/a
18	CEBPB	chr15:44686319-44686761	K562	blood:	n/a	chr15:44686490-44686501
19	CEBPB	chr15:44686286-44686722	Hela-S3	cervix:	n/a	chr15:44686490-44686501
20	CEBPB	chr15:44685892-44686006	IMR90	lung:	n/a	chr15:44685945-44685956
21	CEBPB	chr15:44673465-44673769	A549	lung:	n/a	chr15:44673592-44673605 chr15:44673592-44673605 chr15:44673592-44673603
22	CEBPB	chr15:44673440-44673790	Hela-S3	cervix:	n/a	chr15:44673592-44673605 chr15:44673592-44673605 chr15:44673592-44673603
23	CEBPB	chr15:44673442-44673749	H1-hESC	embryonic stem cell:	n/a	chr15:44673592-44673605 chr15:44673592-44673605 chr15:44673592-44673603
24	CEBPB	chr15:44685841-44686098	HepG2	liver:	n/a	chr15:44685945-44685956
25	CEBPB	chr15:44685634-44686098	K562	blood:	n/a	chr15:44685945-44685956
26	CEBPB	chr15:44673487-44673791	ECC-1	luminal epithelium:	n/a	chr15:44673592-44673605 chr15:44673592-44673605 chr15:44673592-44673603
27	CEBPB	chr15:44685860-44685995	H1-hESC	embryonic stem cell:	n/a	chr15:44685945-44685956
28	CEBPB	chr15:44673418-44673770	K562	blood:	n/a	chr15:44673592-44673605 chr15:44673592-44673605 chr15:44673592-44673603
29	CEBPB	chr15:44685779-44686081	Hela-S3	cervix:	n/a	chr15:44685945-44685956
30	CEBPB	chr15:44673461-44673774	MCF-7	breast:	n/a	chr15:44673592-44673605 chr15:44673592-44673605 chr15:44673592-44673603
31	CEBPB	chr15:44673418-44673783	IMR90	lung:	n/a	chr15:44673592-44673605 chr15:44673592-44673605 chr15:44673592-44673603
32	CEBPB	chr15:44686327-44686669	A549	lung:	n/a	chr15:44686490-44686501
33	CEBPB	chr15:44685772-44686048	K562	blood:	n/a	chr15:44685945-44685956
34	CEBPB	chr15:44686399-44686588	H1-hESC	embryonic stem cell:	n/a	chr15:44686490-44686501
35	CEBPB	chr15:44686318-44686673	HepG2	liver:	n/a	chr15:44686490-44686501
36	CEBPB	chr15:44673450-44673771	HepG2	liver:	n/a	chr15:44673592-44673605 chr15:44673592-44673605 chr15:44673592-44673603
37	CEBPD	chr15:44685768-44686101	K562	blood:	n/a	n/a
38	CEBPD	chr15:44685761-44686148	K562	blood:	n/a	n/a
39	CTCF	chr15:44673560-44673710	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr15:44677985-44677999	LNCaP	prostate:	n/a	n/a
41	CTCF	chr15:44685955-44685967	Fibrobl	skin:	n/a	n/a
42	CTCF	chr15:44673540-44673690	BJ	skin:	n/a	n/a
43	CTCF	chr15:44673460-44673610	HPAF	blood vessel:	n/a	n/a
44	CUX1	chr15:44677248-44677448	GM12878	blood:	n/a	n/a
45	CUX1	chr15:44673679-44673713	GM12878	blood:	n/a	n/a
46	EBF1	chr15:44677387-44677421	GM12878	blood:	n/a	n/a
47	EP300	chr15:44677254-44677544	K562	blood:	n/a	n/a
48	EP300	chr15:44677298-44677742	GM12878	blood:	n/a	n/a
49	EP300	chr15:44677329-44677486	GM12878	blood:	n/a	n/a
50	EP300	chr15:44677298-44677509	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44674181..44676932-chr15:44716918..44719048,2	K562	blood:
2	chr15:44673967..44676346-chr15:44716009..44718980,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTDSPL2-5	chr15:44674277-44674427	NONHSAT042149
2	lnc-CTDSPL2-5	chr15:44673062-44673174	NONHSAT042149
3	lnc-SPG11-3	chr15:44694883-44695137	ENSG00000259595.1
4	lnc-SPG11-4	chr15:44682164-44682649	ENSG00000259499.1
5	lnc-SPG11-4	chr15:44679518-44679686	ENSG00000259499.1

Variant related genes	Relation type
CASC4	TF binding region
ENSG00000259499	TF binding region

Extended variants
information (count: 705 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113144334	chr15:44672112-44672113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373971892	chr15:44672113-44672114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546881728	chr15:44672124-44672125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539697340	chr15:44672179-44672180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs8031117	chr15:44672293-44672294	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192350641	chr15:44672303-44672304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552938138	chr15:44672342-44672343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569248306	chr15:44672343-44672344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368878094	chr15:44672376-44672377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537883422	chr15:44672464-44672465	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs183328583	chr15:44672499-44672500	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs148686560	chr15:44672591-44672592	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs113224306	chr15:44672763-44672764	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs548662568	chr15:44672785-44672786	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs568467478	chr15:44672796-44672797	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs144443403	chr15:44672826-44672827	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs572248999	chr15:44672834-44672835	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs77209193	chr15:44672877-44672878	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs75582759	chr15:44672878-44672879	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs199857744	chr15:44672879-44672880	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs577004454	chr15:44672894-44672895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147410900	chr15:44672896-44672897	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370755991	chr15:44672907-44672908	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188071203	chr15:44672922-44672923	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201218047	chr15:44672976-44672977	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536947135	chr15:44672995-44672996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200454665	chr15:44673012-44673013	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs139631215	chr15:44673021-44673022	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs113520341	chr15:44673032-44673033	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs200052109	chr15:44673033-44673034	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs150204732	chr15:44673052-44673053	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs145697443	chr15:44673069-44673070	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs564743314	chr15:44673070-44673071	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs192060882	chr15:44673112-44673113	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs140734894	chr15:44673140-44673141	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs548601440	chr15:44673186-44673187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568484817	chr15:44673228-44673229	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35834014	chr15:44673254-44673255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534022572	chr15:44673336-44673337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151262761	chr15:44673347-44673348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372562920	chr15:44673386-44673387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78630711	chr15:44673525-44673526	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539261406	chr15:44673539-44673540	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555997602	chr15:44673572-44673573	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367975858	chr15:44673673-44673674	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs13329357	chr15:44673675-44673676	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575932992	chr15:44673681-44673682	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535405364	chr15:44673696-44673697	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140469468	chr15:44673697-44673698	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562916204	chr15:44673772-44673773	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	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	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
Mental retardation	17124404	CNVD
Melanoma	17363583	CNVD
Cancer	20164919	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44582800-44672200	Weak transcription	HSMM	muscle
2	chr15:44641000-44677000	Weak transcription	Brain Anterior Caudate	brain
3	chr15:44641000-44681600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:44641000-44696000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr15:44641200-44673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:44641200-44677200	Weak transcription	HepG2	liver
7	chr15:44641200-44696000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr15:44641400-44682200	Weak transcription	Colonic Mucosa	Colon
9	chr15:44647400-44677200	Weak transcription	Osteobl	bone
10	chr15:44647400-44682000	Weak transcription	NHLF	lung
11	chr15:44647600-44672200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:44647600-44677800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr15:44647600-44685800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:44647600-44686400	Weak transcription	NHEK	skin
15	chr15:44647600-44692400	Weak transcription	Fetal Kidney	kidney
16	chr15:44647600-44710200	Weak transcription	Left Ventricle	heart
17	chr15:44647800-44672200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:44647800-44672200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr15:44647800-44692800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:44648000-44689400	Weak transcription	Gastric	stomach
21	chr15:44651000-44672400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:44655800-44718400	Weak transcription	Fetal Brain Female	brain
23	chr15:44657000-44719000	Weak transcription	Spleen	Spleen
24	chr15:44659200-44681200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:44660000-44678800	Weak transcription	Ovary	ovary
26	chr15:44660200-44706200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr15:44661200-44672200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr15:44661400-44707000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr15:44661400-44708400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:44661400-44718400	Weak transcription	Fetal Brain Male	brain
31	chr15:44661400-44718600	Weak transcription	Fetal Lung	lung
32	chr15:44661800-44680000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr15:44661800-44685600	Weak transcription	Psoas Muscle	Psoas
34	chr15:44661800-44718200	Weak transcription	Brain Angular Gyrus	brain
35	chr15:44662000-44677200	Weak transcription	HUVEC	blood vessel
36	chr15:44662600-44684400	Weak transcription	Colon Smooth Muscle	Colon
37	chr15:44662800-44672200	Weak transcription	Fetal Thymus	thymus
38	chr15:44663000-44717600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr15:44663400-44676400	Weak transcription	GM12878-XiMat	blood
40	chr15:44663400-44700600	Weak transcription	Right Ventricle	heart
41	chr15:44663400-44718800	Weak transcription	Aorta	Aorta
42	chr15:44663600-44682400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:44663800-44680400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:44664400-44677000	Weak transcription	Hela-S3	cervix
45	chr15:44664800-44672200	Weak transcription	Primary B cells from cord blood	blood
46	chr15:44665200-44685800	Weak transcription	Primary T cells from cord blood	blood
47	chr15:44665200-44709400	Weak transcription	Pancreas	Pancrea
48	chr15:44665400-44674000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:44665600-44672600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr15:44665600-44674600	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links