Variant report

Variant	nsv519577
Chromosome Location	chr15:42219960-42220076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42219870..42220734-chr15:42264195..42264893,2	MCF-7	breast:
2	chr15:42217980..42220140-chr15:42223299..42225570,2	K562	blood:
3	chr15:42215835..42217701-chr15:42219642..42223208,3	K562	blood:
4	chr15:42219188..42222413-chr15:42224091..42227939,3	MCF-7	breast:
5	chr15:42217839..42220523-chr15:42226005..42227853,2	K562	blood:

Variant related genes	Relation type
ENSG00000103966	chromatin interactions

Extended variants
information (count: 6 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8043408	chr15:42219960-42219961	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs187252460	chr15:42220018-42220019	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148845819	chr15:42220019-42220020	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530740312	chr15:42220037-42220038	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192577289	chr15:42220056-42220057	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs13329244	chr15:42220076-42220077	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:68)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42201200-42225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:42202200-42225200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:42210600-42225400	Weak transcription	K562	blood
4	chr15:42210800-42221400	Weak transcription	Brain Angular Gyrus	brain
5	chr15:42210800-42230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr15:42211600-42221000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr15:42211600-42226200	Weak transcription	Thymus	Thymus
8	chr15:42211800-42220800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:42211800-42220800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:42211800-42221000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:42212000-42220800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:42212000-42221000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:42212000-42224200	Weak transcription	Esophagus	oesophagus
14	chr15:42212000-42224400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:42212000-42225400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:42212800-42220200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr15:42213200-42221000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr15:42214000-42220000	Weak transcription	Colon Smooth Muscle	Colon
19	chr15:42214000-42220000	Weak transcription	Fetal Kidney	kidney
20	chr15:42214000-42220200	Weak transcription	Fetal Stomach	stomach
21	chr15:42214000-42220800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:42214200-42220400	Weak transcription	Brain Anterior Caudate	brain
23	chr15:42214200-42220800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:42214200-42221000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr15:42214200-42221000	Weak transcription	Brain Hippocampus Middle	brain
26	chr15:42214800-42220800	Weak transcription	Ovary	ovary
27	chr15:42215000-42223800	Enhancers	Primary B cells from peripheral blood	blood
28	chr15:42215400-42221600	Enhancers	Primary B cells from cord blood	blood
29	chr15:42216000-42220200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:42217400-42223200	Enhancers	Stomach Mucosa	stomach
31	chr15:42217400-42223800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:42217600-42220800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:42217600-42224000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr15:42217800-42225400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:42217800-42225400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr15:42218000-42220000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr15:42218000-42220000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr15:42218000-42220000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:42218000-42220600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr15:42218200-42221000	Enhancers	Adipose Nuclei	Adipose
41	chr15:42218200-42223600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr15:42218400-42221800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:42218400-42223000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:42218400-42223600	Enhancers	Liver	Liver
45	chr15:42218400-42223800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:42218400-42223800	Enhancers	Duodenum Mucosa	Duodenum
47	chr15:42218600-42220800	Enhancers	Fetal Intestine Small	intestine
48	chr15:42218600-42223400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr15:42218800-42220200	Enhancers	Hela-S3	cervix
50	chr15:42218800-42220200	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links