Variant report

Variant	nsv977748
Chromosome Location	chr15:83496161-83500241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83482141..83484668-chr15:83493605..83496419,2	MCF-7	breast:
2	chr15:83487140..83490123-chr15:83495534..83497188,2	K562	blood:
3	chr1:116661921..116663439-chr15:83498136..83501074,2	MCF-7	breast:
4	chr15:83495199..83497362-chr15:83499457..83501013,2	K562	blood:
5	chr15:83497773..83500500-chr15:83501869..83504757,2	K562	blood:
6	chr15:83495862..83497428-chr15:83499513..83501800,2	K562	blood:
7	chr15:83497018..83500985-chr15:83502247..83506806,4	MCF-7	breast:
8	chr15:83484279..83486201-chr15:83497779..83499925,2	K562	blood:
9	chr15:83495862..83497428-chr15:83499513..83501800,2	K562	blood:
10	chr15:83495199..83497362-chr15:83499457..83501013,2	K562	blood:
11	chr15:83478452..83480034-chr15:83499455..83501748,2	MCF-7	breast:
12	chr15:83477460..83480587-chr15:83496112..83502372,6	K562	blood:
13	chr15:83378862..83381200-chr15:83497149..83499463,2	K562	blood:
14	chr15:83495845..83498669-chr15:83504409..83507025,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000156232	chromatin interactions

Extended variants
information (count: 174 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559556135	chr15:83496202-83496203	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558032278	chr15:83496236-83496237	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191150576	chr15:83496312-83496313	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542173188	chr15:83496356-83496357	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561960283	chr15:83496381-83496382	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565956453	chr15:83496403-83496404	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs182701536	chr15:83496422-83496423	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187030011	chr15:83496425-83496426	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532608649	chr15:83496449-83496450	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552366045	chr15:83496469-83496470	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565965114	chr15:83496553-83496554	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534888202	chr15:83496557-83496558	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190361910	chr15:83496566-83496567	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568698134	chr15:83496568-83496569	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536648848	chr15:83496645-83496646	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139367537	chr15:83496659-83496660	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576881743	chr15:83496691-83496692	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79320532	chr15:83496699-83496700	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368760254	chr15:83496710-83496711	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182957719	chr15:83496742-83496743	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35989256	chr15:83496743-83496744	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573121978	chr15:83496754-83496755	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375918522	chr15:83496818-83496819	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs542036064	chr15:83496819-83496820	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551589813	chr15:83496869-83496870	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs74344850	chr15:83496870-83496871	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369036755	chr15:83496923-83496924	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs373235438	chr15:83496930-83496931	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563663293	chr15:83496943-83496944	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375868725	chr15:83496983-83496984	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574948636	chr15:83496992-83496993	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149604706	chr15:83496998-83496999	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77078601	chr15:83497060-83497061	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187658388	chr15:83497085-83497086	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528672628	chr15:83497120-83497121	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569814051	chr15:83497149-83497150	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs75568651	chr15:83497161-83497162	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11635053	chr15:83497216-83497217	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148637689	chr15:83497281-83497282	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370828769	chr15:83497290-83497291	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs143210490	chr15:83497294-83497295	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539438910	chr15:83497348-83497349	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537290340	chr15:83497374-83497375	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553144495	chr15:83497382-83497383	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577382772	chr15:83497462-83497463	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201198161	chr15:83497485-83497486	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35788008	chr15:83497488-83497489	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs193286653	chr15:83497540-83497541	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs146660034	chr15:83497550-83497551	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs17158267	chr15:83497589-83497590	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83479600-83504200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:83479800-83504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:83480000-83497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:83480000-83501600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:83480400-83500600	Weak transcription	Stomach Mucosa	stomach
6	chr15:83480400-83507000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:83481000-83499800	Weak transcription	Fetal Heart	heart
8	chr15:83481200-83507200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:83481400-83500800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:83481400-83507000	Strong transcription	Placenta	Placenta
11	chr15:83481600-83500800	Strong transcription	Fetal Thymus	thymus
12	chr15:83481600-83507000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr15:83481800-83496400	Strong transcription	Liver	Liver
14	chr15:83481800-83499400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:83481800-83500000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr15:83481800-83506200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:83481800-83507000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr15:83481800-83507600	Strong transcription	Adipose Nuclei	Adipose
19	chr15:83482000-83500000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:83482000-83500200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr15:83482000-83506800	Strong transcription	Fetal Intestine Large	intestine
22	chr15:83482000-83507000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr15:83482200-83500200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr15:83482200-83507000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr15:83482400-83496600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr15:83482600-83500200	Strong transcription	Fetal Lung	lung
27	chr15:83482800-83500400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:83482800-83506800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr15:83483200-83507400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:83484800-83505400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
31	chr15:83485200-83500600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr15:83485400-83500600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr15:83485800-83496800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:83487800-83500200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:83488000-83496400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr15:83488400-83505000	Strong transcription	Fetal Stomach	stomach
37	chr15:83488800-83497000	Weak transcription	Psoas Muscle	Psoas
38	chr15:83488800-83501800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr15:83489000-83497000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr15:83489200-83496600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:83489200-83500200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:83489200-83500800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:83489200-83506800	Weak transcription	Fetal Brain Male	brain
44	chr15:83489400-83496800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:83489800-83499800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:83490600-83496800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr15:83491000-83499400	Strong transcription	GM12878-XiMat	blood
48	chr15:83491000-83500600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:83491000-83500600	Strong transcription	HSMM	muscle
50	chr15:83491000-83508000	Strong transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links