Variant report

Variant	nsv1020223
Chromosome Location	chr5:151383539-151417923
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	chr5:151379102..151380785-chr5:151386115..151388101,2	MCF-7	breast:
2	chr5:151378425..151380770-chr5:151390960..151392879,2	K562	blood:

Extended variants
information (count: 686 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12518066	chr5:151383539-151383540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79464621	chr5:151383540-151383541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73271345	chr5:151383555-151383556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560373489	chr5:151383572-151383573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572287201	chr5:151383595-151383596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76970878	chr5:151383604-151383605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184429087	chr5:151383629-151383630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531408242	chr5:151383639-151383640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150386864	chr5:151383680-151383681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12523233	chr5:151383692-151383693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374140783	chr5:151383708-151383709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17112437	chr5:151383732-151383733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs115449299	chr5:151383747-151383748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534198008	chr5:151383756-151383757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79381349	chr5:151383765-151383766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549842259	chr5:151383768-151383769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571018278	chr5:151383775-151383776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538482979	chr5:151383808-151383809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556290061	chr5:151383823-151383824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574613779	chr5:151383824-151383825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535417261	chr5:151383863-151383864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553457611	chr5:151383888-151383889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192729823	chr5:151383896-151383897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs39786	chr5:151383952-151383953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79026419	chr5:151383965-151383966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184362033	chr5:151383966-151383967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189061348	chr5:151383974-151383975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543238437	chr5:151383984-151383985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562623425	chr5:151383985-151383986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181730375	chr5:151383988-151383989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114339393	chr5:151384001-151384002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116931641	chr5:151384002-151384003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs42387	chr5:151384007-151384008	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568194188	chr5:151384008-151384009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184863187	chr5:151384019-151384020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75352163	chr5:151384041-151384042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571210133	chr5:151384052-151384053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538420143	chr5:151384059-151384060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565838057	chr5:151384082-151384083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539419573	chr5:151384116-151384117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7446781	chr5:151384119-151384120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs445996	chr5:151384126-151384127	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs138803974	chr5:151384243-151384244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1823005	chr5:151384317-151384318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77637773	chr5:151384348-151384349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571909409	chr5:151384385-151384386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs29667	chr5:151384425-151384426	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs141982826	chr5:151384455-151384456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190508831	chr5:151384516-151384517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375116654	chr5:151384518-151384519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Parkinson disease	21829596	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151383200-151383600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:151383600-151386400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:151383800-151384000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:151384000-151388400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:151384600-151385000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:151384800-151385600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:151385000-151386600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:151386400-151388800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:151386600-151388400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:151386800-151387400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:151386800-151388000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:151387000-151387800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:151387000-151387800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:151387000-151387800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:151387000-151388000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:151387000-151388000	Enhancers	Brain Germinal Matrix	brain
17	chr5:151387000-151388600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:151387200-151387600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:151387200-151387800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:151387200-151388000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:151387200-151388000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:151387200-151388200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:151387400-151387800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:151387400-151388200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:151387400-151388400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:151388400-151388600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:151388400-151389400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:151389400-151389600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:151404000-151405200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:151404800-151407200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr5:151405000-151405200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr5:151405000-151407600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:151405200-151405400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr5:151405200-151405400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr5:151405200-151405800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr5:151405200-151406200	Enhancers	Primary B cells from peripheral blood	blood
37	chr5:151405200-151407000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr5:151405200-151407000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:151405200-151407000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:151405200-151407000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr5:151405200-151407200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr5:151405200-151407800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:151405400-151405600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr5:151405400-151406000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr5:151405400-151407000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr5:151405600-151405800	Enhancers	Primary T cells from cord blood	blood
47	chr5:151405600-151406600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr5:151405800-151406600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr5:151406000-151407200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr5:151406200-151407200	ZNF genes & repeats	Primary B cells from peripheral blood	blood

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