Variant report

Variant	nsv570198
Chromosome Location	chr15:78154478-78156753
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 123 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560820583	chr15:78154504-78154505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572386605	chr15:78154522-78154523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543003743	chr15:78154539-78154540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561230734	chr15:78154590-78154591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148849170	chr15:78154601-78154602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564713160	chr15:78154627-78154628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182448674	chr15:78154635-78154636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547411407	chr15:78154638-78154639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186771302	chr15:78154690-78154691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535915949	chr15:78154695-78154696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548125846	chr15:78154717-78154718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569780490	chr15:78154752-78154753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537112157	chr15:78154754-78154755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558660890	chr15:78154774-78154775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111572904	chr15:78154781-78154782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578233448	chr15:78154782-78154783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71407229	chr15:78154790-78154791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539225515	chr15:78154793-78154794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143552117	chr15:78154794-78154795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112338681	chr15:78154803-78154804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542666954	chr15:78154807-78154808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191138399	chr15:78154808-78154809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185766732	chr15:78154871-78154872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138075006	chr15:78154885-78154886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565026299	chr15:78154924-78154925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532216834	chr15:78154942-78154943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143748050	chr15:78154944-78154945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188577262	chr15:78154945-78154946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529963820	chr15:78154977-78154978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375482007	chr15:78155004-78155005	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs569694748	chr15:78155008-78155009	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs146104357	chr15:78155035-78155036	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs552341782	chr15:78155037-78155038	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs570558856	chr15:78155047-78155048	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs538859268	chr15:78155088-78155089	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs76947492	chr15:78155092-78155093	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs544456723	chr15:78155112-78155113	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs536923627	chr15:78155125-78155126	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs141858040	chr15:78155126-78155127	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs193161656	chr15:78155148-78155149	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs72730780	chr15:78155155-78155156	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558675584	chr15:78155169-78155170	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs576880342	chr15:78155183-78155184	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs72730781	chr15:78155185-78155186	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs559469229	chr15:78155240-78155241	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs529826119	chr15:78155241-78155242	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs542137986	chr15:78155242-78155243	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs563564993	chr15:78155247-78155248	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs530566797	chr15:78155301-78155302	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs185340332	chr15:78155306-78155307	Weak transcription Enhancers Bivalent Enhancer	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78152200-78155600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr15:78152400-78154800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:78152400-78161400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:78152800-78155400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr15:78153400-78155000	Weak transcription	Fetal Intestine Small	intestine
6	chr15:78153400-78155400	Weak transcription	Fetal Intestine Large	intestine
7	chr15:78153400-78156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:78154400-78155800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:78154800-78155000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:78154800-78155400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr15:78154800-78155400	Enhancers	HSMMtube	muscle
12	chr15:78154800-78156800	Enhancers	Fetal Heart	heart
13	chr15:78154800-78157200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:78155000-78155200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:78155000-78155200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr15:78155000-78155200	Bivalent Enhancer	Placenta	Placenta
17	chr15:78155000-78155600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:78155000-78155600	Enhancers	Fetal Muscle Leg	muscle
19	chr15:78155000-78155600	Bivalent Enhancer	Fetal Stomach	stomach
20	chr15:78155000-78155800	Enhancers	Fetal Intestine Small	intestine
21	chr15:78155000-78156800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr15:78155000-78158000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:78155200-78155400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:78155200-78155400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:78155200-78155400	Enhancers	HSMM	muscle
26	chr15:78155200-78155600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:78155400-78155600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
28	chr15:78155400-78155600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:78155400-78155800	Enhancers	Fetal Intestine Large	intestine
30	chr15:78155400-78157400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr15:78155400-78161400	Weak transcription	HSMM	muscle
32	chr15:78155600-78155800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:78155600-78156000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr15:78155600-78156600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:78155600-78157000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr15:78155800-78156200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:78155800-78163000	Weak transcription	Fetal Intestine Small	intestine
38	chr15:78156000-78156400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:78156200-78156400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr15:78156200-78156600	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr15:78156200-78156800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:78156200-78157600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:78156200-78157800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:78156400-78156800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr15:78156400-78157000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr15:78156400-78157000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr15:78156400-78157000	Bivalent Enhancer	Placenta	Placenta
48	chr15:78156600-78157200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:78156600-78157800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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