Variant report

Variant	nsv570199
Chromosome Location	chr15:78156238-78159232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78146921..78148792-chr15:78155697..78158259,2	K562	blood:
2	chr15:77925580..77926309-chr15:78156358..78157211,2	MCF-7	breast:
3	chr15:78151615..78153202-chr15:78155593..78157169,2	MCF-7	breast:

Extended variants
information (count: 127 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8032467	chr15:78156238-78156239	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371238655	chr15:78156242-78156243	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs571053669	chr15:78156399-78156400	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs535020460	chr15:78156407-78156408	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs116270944	chr15:78156441-78156442	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs181373930	chr15:78156442-78156443	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs111285102	chr15:78156444-78156445	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs557469473	chr15:78156472-78156473	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs74026898	chr15:78156473-78156474	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs370033023	chr15:78156488-78156489	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs113237265	chr15:78156499-78156500	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs58596982	chr15:78156528-78156529	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575616444	chr15:78156559-78156560	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs561493563	chr15:78156561-78156562	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs184108794	chr15:78156571-78156572	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs543935805	chr15:78156579-78156580	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs562231916	chr15:78156584-78156585	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs115484321	chr15:78156608-78156609	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs552304837	chr15:78156668-78156669	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs564810396	chr15:78156689-78156690	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs188351799	chr15:78156701-78156702	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs546993083	chr15:78156703-78156704	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs11857840	chr15:78156753-78156754	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs535835884	chr15:78156764-78156765	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs151130134	chr15:78156765-78156766	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs180763422	chr15:78156773-78156774	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs28602636	chr15:78156790-78156791	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140205157	chr15:78156797-78156798	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs528881656	chr15:78156840-78156841	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs113327928	chr15:78156869-78156870	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs533869779	chr15:78156902-78156903	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs555618088	chr15:78156913-78156914	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs573339860	chr15:78156924-78156925	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs190546343	chr15:78156933-78156934	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs34690676	chr15:78156939-78156940	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs146948706	chr15:78156943-78156944	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs372450957	chr15:78156953-78156954	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs577278968	chr15:78156971-78156972	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs546391970	chr15:78157003-78157004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564494309	chr15:78157032-78157033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182385480	chr15:78157121-78157122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376952534	chr15:78157174-78157175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4522380	chr15:78157218-78157219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147621347	chr15:78157247-78157248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116102083	chr15:78157262-78157263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529354394	chr15:78157271-78157272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76010940	chr15:78157296-78157297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563511674	chr15:78157310-78157311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369233172	chr15:78157320-78157321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531114918	chr15:78157341-78157342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Intellectual disability	22102821	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
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78152400-78161400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:78154800-78156800	Enhancers	Fetal Heart	heart
3	chr15:78154800-78157200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:78155000-78156800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr15:78155000-78158000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:78155400-78157400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr15:78155400-78161400	Weak transcription	HSMM	muscle
8	chr15:78155600-78156600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:78155600-78157000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr15:78155800-78163000	Weak transcription	Fetal Intestine Small	intestine
11	chr15:78156000-78156400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:78156200-78156400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr15:78156200-78156600	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr15:78156200-78156800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:78156200-78157600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:78156200-78157800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:78156400-78156800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr15:78156400-78157000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr15:78156400-78157000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr15:78156400-78157000	Bivalent Enhancer	Placenta	Placenta
21	chr15:78156600-78157200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:78156600-78157800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:78157000-78161400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:78157200-78157600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr15:78157200-78158600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:78157400-78157600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:78157600-78162400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:78157800-78161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:78158000-78159000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:78158600-78159800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:78159000-78159600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr15:78159000-78160400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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