Variant report

Variant	nsv984103
Chromosome Location	chr15:83863797-83864417
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83827913..83829860-chr15:83861964..83864558,2	MCF-7	breast:
2	chr15:83861740..83863529-chr15:83864105..83865780,2	K562	blood:
3	chr15:83733605..83736253-chr15:83862625..83865448,3	MCF-7	breast:
4	chr15:83864409..83866700-chr15:83867728..83869600,2	K562	blood:
5	chr15:83863825..83865327-chr15:83865612..83867944,2	MCF-7	breast:
6	chr15:83862175..83865617-chr15:83873380..83877814,4	K562	blood:
7	chr15:83861348..83866497-chr15:83870709..83877751,10	K562	blood:
8	chr15:83857083..83859272-chr15:83864113..83866695,2	MCF-7	breast:
9	chr15:83734109..83736654-chr15:83864110..83865961,2	K562	blood:
10	chr15:83733943..83736754-chr15:83863443..83865610,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166503	chromatin interactions
ENSG00000263643	chromatin interactions
ENSG00000064726	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544206113	chr15:83863821-83863822	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs149534285	chr15:83863861-83863862	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs533044623	chr15:83863902-83863903	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs562364919	chr15:83863904-83863905	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs11259968	chr15:83863924-83863925	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560045172	chr15:83863948-83863949	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs529084756	chr15:83863969-83863970	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs548808767	chr15:83863975-83863976	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs568203311	chr15:83864011-83864012	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs11259969	chr15:83864087-83864088	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs367882065	chr15:83864139-83864140	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs570838649	chr15:83864141-83864142	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs189093779	chr15:83864168-83864169	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs553633281	chr15:83864169-83864170	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs573505958	chr15:83864206-83864207	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs372118155	chr15:83864244-83864245	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs182185312	chr15:83864260-83864261	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs11856806	chr15:83864279-83864280	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549396987	chr15:83864320-83864321	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs575382035	chr15:83864333-83864334	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs112051332	chr15:83864377-83864378	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs544339542	chr15:83864388-83864389	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 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
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
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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83832200-83865600	Weak transcription	HSMM	muscle
2	chr15:83836000-83870200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:83837000-83873600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:83840000-83867200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:83840000-83867200	Weak transcription	Fetal Brain Female	brain
6	chr15:83840200-83869200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr15:83841200-83872600	Weak transcription	Brain Germinal Matrix	brain
8	chr15:83841800-83870400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:83847400-83873400	Weak transcription	Fetal Kidney	kidney
10	chr15:83854600-83864200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:83857000-83864200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:83858800-83865600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:83860400-83863800	Enhancers	HMEC	breast
14	chr15:83860600-83864000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:83860800-83864000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:83861000-83873600	Weak transcription	Left Ventricle	heart
17	chr15:83861000-83873600	Weak transcription	Right Atrium	heart
18	chr15:83861200-83868400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:83861600-83863800	Enhancers	K562	blood
20	chr15:83861600-83864800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr15:83861600-83869200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:83861800-83864000	Enhancers	NHEK	skin
23	chr15:83861800-83869200	Weak transcription	HSMMtube	muscle
24	chr15:83861800-83870400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:83861800-83871600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:83862000-83864800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr15:83862000-83867000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:83862200-83863800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr15:83862200-83864200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr15:83862600-83865000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr15:83862600-83865600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:83862800-83864000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr15:83862800-83865600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:83862800-83865600	Weak transcription	NHDF-Ad	bronchial
35	chr15:83862800-83866400	Weak transcription	Ovary	ovary
36	chr15:83862800-83875200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:83863200-83864000	Weak transcription	Fetal Heart	heart
38	chr15:83863200-83870400	Weak transcription	A549	lung
39	chr15:83863200-83871600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:83863400-83863800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:83863400-83864000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr15:83863400-83864000	Flanking Active TSS	GM12878-XiMat	blood
43	chr15:83863400-83864800	Enhancers	HUVEC	blood vessel
44	chr15:83863400-83866600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:83863600-83864400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr15:83863600-83872600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:83863600-83873400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr15:83863600-83874400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:83863800-83865400	Weak transcription	HMEC	breast
50	chr15:83863800-83869200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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