Variant report

Variant	nsv977056
Chromosome Location	chr15:57451639-57455991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57455822..57459660-chr15:57459793..57463259,4	K562	blood:
2	chr15:57445851..57448628-chr15:57452801..57454618,2	K562	blood:

Extended variants
information (count: 186 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs574961131	chr15:57451699-57451700	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537445935	chr15:57451762-57451763	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557282998	chr15:57451828-57451829	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145937149	chr15:57451890-57451891	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199521202	chr15:57451910-57451911	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200932584	chr15:57451911-57451912	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199767723	chr15:57451912-57451913	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201463483	chr15:57451913-57451914	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs66488027	chr15:57451914-57451915	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11281583	chr15:57451916-57451917	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199741818	chr15:57451917-57451918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200645446	chr15:57451918-57451919	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139488240	chr15:57451984-57451985	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72731964	chr15:57452024-57452025	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149668177	chr15:57452055-57452056	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541989995	chr15:57452075-57452076	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561450244	chr15:57452097-57452098	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189195760	chr15:57452185-57452186	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150486951	chr15:57452194-57452195	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374748192	chr15:57452199-57452200	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556231184	chr15:57452208-57452209	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181576344	chr15:57452213-57452214	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564152590	chr15:57452242-57452243	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532767503	chr15:57452279-57452280	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546910097	chr15:57452290-57452291	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566623326	chr15:57452299-57452300	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529125491	chr15:57452410-57452411	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549154465	chr15:57452444-57452445	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2703616	chr15:57452445-57452446	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1841697	chr15:57452491-57452492	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs369073214	chr15:57452494-57452495	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117086003	chr15:57452499-57452500	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114718814	chr15:57452524-57452525	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115375981	chr15:57452530-57452531	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185855219	chr15:57452537-57452538	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542026929	chr15:57452553-57452554	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555579944	chr15:57452581-57452582	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564997536	chr15:57452610-57452611	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575428780	chr15:57452630-57452631	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376978153	chr15:57452637-57452638	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145492838	chr15:57452639-57452640	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532961657	chr15:57452670-57452671	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371219399	chr15:57452672-57452673	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12903578	chr15:57452681-57452682	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs148855066	chr15:57452701-57452702	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145207840	chr15:57452718-57452719	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529966459	chr15:57452745-57452746	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549291082	chr15:57452771-57452772	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569120868	chr15:57452779-57452780	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79021458	chr15:57452800-57452801	Weak transcription Enhancers Strong transcription	n/a	n/a	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
Pancreatic cancer	17952125	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57439000-57463400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:57439400-57456000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:57439400-57491600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:57444200-57456600	Strong transcription	Fetal Thymus	thymus
5	chr15:57444400-57459000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:57444400-57459200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:57444400-57485600	Weak transcription	Placenta	Placenta
8	chr15:57444400-57507400	Weak transcription	K562	blood
9	chr15:57444600-57452800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:57444600-57455600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:57444600-57458000	Weak transcription	Dnd41	blood
12	chr15:57444600-57458400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr15:57444600-57459000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr15:57444600-57459600	Weak transcription	Liver	Liver
15	chr15:57444600-57490200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:57444800-57458600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:57444800-57458800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr15:57444800-57458800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr15:57444800-57484200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:57444800-57484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:57445000-57455600	Weak transcription	Primary T cells from cord blood	blood
22	chr15:57445000-57461600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:57445200-57452400	Weak transcription	Fetal Intestine Large	intestine
24	chr15:57445200-57466000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr15:57445400-57458800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:57445400-57478400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:57445600-57455800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr15:57445600-57458800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:57445600-57459000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:57445600-57461400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr15:57446000-57455600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr15:57446000-57455600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr15:57446000-57468400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:57446200-57458800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr15:57446600-57455600	Weak transcription	Primary B cells from cord blood	blood
36	chr15:57446600-57459600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:57446800-57455000	Weak transcription	GM12878-XiMat	blood
38	chr15:57447000-57484600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:57447200-57458200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr15:57447800-57452800	Enhancers	Brain Hippocampus Middle	brain
41	chr15:57447800-57466000	Weak transcription	Pancreas	Pancrea
42	chr15:57448000-57451800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:57448000-57465600	Weak transcription	Right Ventricle	heart
44	chr15:57448000-57483800	Weak transcription	Lung	lung
45	chr15:57448200-57452400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr15:57448800-57460200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:57448800-57463400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr15:57449000-57458600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr15:57449800-57451800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:57450000-57452600	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links