Variant report

Variant	nsv977760
Chromosome Location	chr15:99817087-99826056
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	CEBPB	chr15:99821469-99821625	A549	lung:	n/a	chr15:99821512-99821523
2	CEBPB	chr15:99821435-99821646	K562	blood:	n/a	chr15:99821512-99821523
3	CEBPB	chr15:99821352-99821661	HepG2	liver:	n/a	chr15:99821512-99821523
4	CEBPB	chr15:99821428-99821661	IMR90	lung:	n/a	chr15:99821512-99821523
5	CTCF	chr15:99824920-99825070	GM12873	blood:	n/a	n/a
6	FOS	chr15:99822843-99823072	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr15:99823979-99824254	MCF10A-Er-Src	breast:	n/a	chr15:99824133-99824142 chr15:99824131-99824142 chr15:99824132-99824141 chr15:99824089-99824098 chr15:99824133-99824141 chr15:99824133-99824140
8	FOS	chr15:99823932-99824330	HUVEC	blood vessel:	n/a	chr15:99824133-99824142 chr15:99824131-99824142 chr15:99824132-99824141 chr15:99824089-99824098 chr15:99824133-99824141 chr15:99824133-99824140
9	FOS	chr15:99823945-99824361	MCF10A-Er-Src	breast:	n/a	chr15:99824133-99824142 chr15:99824131-99824142 chr15:99824132-99824141 chr15:99824089-99824098 chr15:99824133-99824141 chr15:99824133-99824140
10	FOS	chr15:99822891-99822990	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr15:99822809-99823117	MCF10A-Er-Src	breast:	n/a	n/a
12	PBX3	chr15:99820084-99820401	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr15:99825652-99825687	A549	lung:	n/a	n/a
14	POLR2A	chr15:99822262-99822380	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr15:99825028-99825151	Gliobla	brain:	n/a	n/a
16	POLR2A	chr15:99825577-99825645	MCF-7	breast:	n/a	n/a
17	POLR2A	chr15:99825627-99825646	A549	lung:	n/a	n/a
18	POLR2A	chr15:99825549-99825754	Gliobla	brain:	n/a	n/a
19	POLR2A	chr15:99825692-99825700	A549	lung:	n/a	n/a
20	STAT3	chr15:99822916-99822995	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr15:99822815-99823106	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr15:99822888-99823088	MCF10A-Er-Src	breast:	n/a	n/a
23	TBL1XR1	chr15:99825844-99825859	K562	blood:	n/a	n/a
24	ZNF384	chr15:99822946-99823023	GM12878	blood:	n/a	n/a
25	ZNF384	chr15:99822260-99822626	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99820578..99822487-chr15:99824198..99826248,2	MCF-7	breast:

Variant related genes	Relation type
LRRC28	TF binding region
HNRNPA1P62	TF binding region
ENSG00000259228	chromatin interactions

Extended variants
information (count: 347 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546307529	chr15:99817127-99817128	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs36103287	chr15:99817145-99817146	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs564872578	chr15:99817174-99817175	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186233347	chr15:99817175-99817176	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs62023779	chr15:99817201-99817202	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs190556828	chr15:99817226-99817227	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546311535	chr15:99817236-99817237	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116338732	chr15:99817266-99817267	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140873078	chr15:99817302-99817303	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28456043	chr15:99817315-99817316	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574450198	chr15:99817378-99817379	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183513175	chr15:99817415-99817416	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs8042439	chr15:99817442-99817443	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563862119	chr15:99817574-99817575	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11247070	chr15:99817575-99817576	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188014496	chr15:99817581-99817582	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564771630	chr15:99817598-99817599	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578160542	chr15:99817614-99817615	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546958825	chr15:99817673-99817674	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs62023780	chr15:99817681-99817682	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535553212	chr15:99817689-99817690	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550705950	chr15:99817739-99817740	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs150176935	chr15:99817746-99817747	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs536805465	chr15:99817754-99817755	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs558487474	chr15:99817762-99817763	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs570707695	chr15:99817766-99817767	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs538077906	chr15:99817814-99817815	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11247071	chr15:99817834-99817835	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs75658618	chr15:99817877-99817878	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574525783	chr15:99817902-99817903	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534963777	chr15:99817978-99817979	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34315818	chr15:99817996-99817997	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs67668108	chr15:99817997-99817998	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71287825	chr15:99817998-99817999	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191237817	chr15:99818028-99818029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577934162	chr15:99818051-99818052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557046926	chr15:99818082-99818083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540707501	chr15:99818085-99818086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575431403	chr15:99818167-99818168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs118166643	chr15:99818258-99818259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564559131	chr15:99818263-99818264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528760894	chr15:99818297-99818298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs3961782	chr15:99818380-99818381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562107242	chr15:99818392-99818393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557476971	chr15:99818393-99818394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529211639	chr15:99818419-99818420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550567082	chr15:99818422-99818423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568984099	chr15:99818451-99818452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77858317	chr15:99818464-99818465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs552325815	chr15:99818465-99818466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	20811773	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Emphysema	19352772	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99792200-99846400	Weak transcription	Lung	lung
2	chr15:99792600-99832200	Weak transcription	Aorta	Aorta
3	chr15:99792800-99847000	Weak transcription	Right Ventricle	heart
4	chr15:99793000-99823800	Weak transcription	Fetal Brain Male	brain
5	chr15:99793000-99838000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:99793000-99850400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:99793000-99866600	Weak transcription	Gastric	stomach
8	chr15:99793200-99822400	Weak transcription	Adipose Nuclei	Adipose
9	chr15:99794000-99830800	Weak transcription	Fetal Muscle Leg	muscle
10	chr15:99794000-99840000	Weak transcription	Brain Anterior Caudate	brain
11	chr15:99794000-99846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:99794200-99834600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:99794200-99847000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr15:99794400-99819000	Weak transcription	Primary B cells from cord blood	blood
15	chr15:99794400-99845200	Weak transcription	HSMMtube	muscle
16	chr15:99798000-99838200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr15:99798200-99819200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:99798400-99831200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr15:99798400-99834600	Weak transcription	HSMM	muscle
20	chr15:99798600-99819600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:99799200-99819800	Weak transcription	Primary T cells from cord blood	blood
22	chr15:99799400-99838200	Weak transcription	Fetal Lung	lung
23	chr15:99799600-99824800	Weak transcription	Left Ventricle	heart
24	chr15:99800000-99834000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:99803200-99832200	Weak transcription	Fetal Stomach	stomach
26	chr15:99805000-99822000	Weak transcription	NHEK	skin
27	chr15:99805400-99819200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:99805600-99819000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:99808800-99845200	Weak transcription	Fetal Kidney	kidney
30	chr15:99809000-99828000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:99809000-99830800	Weak transcription	Fetal Intestine Large	intestine
32	chr15:99809000-99846400	Weak transcription	Pancreas	Pancrea
33	chr15:99809000-99846400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr15:99813400-99819200	Weak transcription	Liver	Liver
35	chr15:99813800-99822600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:99814000-99819000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:99814200-99838400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:99814400-99819600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr15:99814400-99823800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:99814600-99824000	Weak transcription	Osteobl	bone
41	chr15:99816200-99818000	Flanking Active TSS	Dnd41	blood
42	chr15:99816200-99824000	Weak transcription	Fetal Heart	heart
43	chr15:99816200-99828800	Weak transcription	Fetal Intestine Small	intestine
44	chr15:99816200-99832200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:99816400-99838800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr15:99816600-99817800	Active TSS	Fetal Thymus	thymus
47	chr15:99816600-99819000	Weak transcription	Thymus	Thymus
48	chr15:99816800-99846400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:99817000-99845000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr15:99817200-99818000	Enhancers	GM12878-XiMat	blood

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