Variant report

Variant	nsv974497
Chromosome Location	chr15:57799550-57800455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57668388..57670027-chr15:57798207..57800643,2	MCF-7	breast:
2	chr15:57797159..57800107-chr15:57801647..57804598,2	K562	blood:
3	chr15:57797927..57800913-chr15:57801647..57804497,4	K562	blood:
4	chr15:57797923..57800458-chr15:57801909..57803943,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128849	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536764677	chr15:57799571-57799572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144317815	chr15:57799596-57799597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576231413	chr15:57799640-57799641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567467727	chr15:57799689-57799690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551548630	chr15:57799720-57799721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537954795	chr15:57799760-57799761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1280355	chr15:57799765-57799766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572452384	chr15:57799867-57799868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558190464	chr15:57799914-57799915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs578120768	chr15:57799946-57799947	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78312481	chr15:57799981-57799982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561159134	chr15:57800046-57800047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113191193	chr15:57800061-57800062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs550011624	chr15:57800079-57800080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113669290	chr15:57800082-57800083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563457523	chr15:57800084-57800085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs61559769	chr15:57800095-57800096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs11071324	chr15:57800109-57800110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565961857	chr15:57800115-57800116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs534952618	chr15:57800144-57800145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34644641	chr15:57800154-57800155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567983936	chr15:57800167-57800168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139559193	chr15:57800168-57800169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190120700	chr15:57800173-57800174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182040567	chr15:57800187-57800188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538844106	chr15:57800190-57800191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73421901	chr15:57800201-57800202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572388979	chr15:57800260-57800261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73423504	chr15:57800319-57800320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs554903548	chr15:57800340-57800341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs541463532	chr15:57800393-57800394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9806675	chr15:57800399-57800400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57779400-57800800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr15:57787200-57802000	Weak transcription	Aorta	Aorta
3	chr15:57789800-57801600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:57790000-57808600	Weak transcription	Fetal Brain Male	brain
5	chr15:57790200-57801400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:57793200-57800200	Enhancers	Stomach Mucosa	stomach
7	chr15:57793400-57803200	Enhancers	Placenta	Placenta
8	chr15:57793600-57801000	Weak transcription	HSMMtube	muscle
9	chr15:57793600-57803200	Enhancers	Fetal Intestine Small	intestine
10	chr15:57793800-57802000	Enhancers	Fetal Intestine Large	intestine
11	chr15:57794200-57808800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:57795200-57800400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:57795200-57801600	Weak transcription	Small Intestine	intestine
14	chr15:57795400-57800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:57795600-57800200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:57795600-57801200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:57795800-57800800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:57796000-57800200	Enhancers	Fetal Stomach	stomach
19	chr15:57796200-57800400	Enhancers	Fetal Kidney	kidney
20	chr15:57796400-57799600	Enhancers	Fetal Lung	lung
21	chr15:57796600-57800600	Weak transcription	Liver	Liver
22	chr15:57797000-57801600	Weak transcription	Right Ventricle	heart
23	chr15:57797000-57814000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:57797000-57827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:57797200-57802000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr15:57797200-57802400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:57797400-57801200	Weak transcription	Gastric	stomach
28	chr15:57797800-57801200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr15:57797800-57802600	Weak transcription	Osteobl	bone
30	chr15:57798000-57800800	Weak transcription	Lung	lung
31	chr15:57798000-57801200	Weak transcription	Esophagus	oesophagus
32	chr15:57798000-57801800	Weak transcription	Brain Substantia Nigra	brain
33	chr15:57798000-57802000	Weak transcription	Brain Hippocampus Middle	brain
34	chr15:57798000-57802400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr15:57798000-57805200	Enhancers	Fetal Heart	heart
36	chr15:57798400-57801000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr15:57798400-57809400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr15:57798600-57800000	Enhancers	NHEK	skin
39	chr15:57798600-57800600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:57798600-57801000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:57798600-57801400	Weak transcription	HMEC	breast
42	chr15:57798600-57808600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr15:57798800-57800400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr15:57798800-57800800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr15:57798800-57800800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr15:57798800-57801000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr15:57798800-57801200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr15:57798800-57801200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr15:57798800-57801400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr15:57798800-57801600	Weak transcription	Fetal Thymus	thymus

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