Variant report

Variant	nsv468694
Chromosome Location	chr1:242798258-242824384
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	chr1:242817323..242819787-chr1:242897350..242900264,2	K562	blood:

Extended variants
information (count: 790 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:790 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6671607	chr1:242798258-242798259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548347192	chr1:242798275-242798276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376378882	chr1:242798300-242798301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534087261	chr1:242798318-242798319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527645627	chr1:242798319-242798320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369346128	chr1:242798344-242798345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570416640	chr1:242798410-242798411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539451163	chr1:242798453-242798454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556261137	chr1:242798467-242798468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6671874	chr1:242798472-242798473	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150128273	chr1:242798531-242798532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555917479	chr1:242798566-242798567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573190132	chr1:242798570-242798571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552151207	chr1:242798588-242798589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78912829	chr1:242798597-242798598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541277882	chr1:242798613-242798614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75320491	chr1:242798632-242798633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564270487	chr1:242798639-242798640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111624072	chr1:242798703-242798704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142883823	chr1:242798713-242798714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146435386	chr1:242798739-242798740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541620148	chr1:242798740-242798741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549253307	chr1:242798777-242798778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12037664	chr1:242798788-242798789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182877306	chr1:242798818-242798819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547675197	chr1:242798845-242798846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139014341	chr1:242798875-242798876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187515034	chr1:242798932-242798933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6674901	chr1:242798937-242798938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368792405	chr1:242798945-242798946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4658840	chr1:242798972-242798973	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539483820	chr1:242798979-242798980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10926798	chr1:242798989-242798990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61839685	chr1:242799022-242799023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6675014	chr1:242799035-242799036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572557737	chr1:242799038-242799039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534900653	chr1:242799055-242799056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192674141	chr1:242799064-242799065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111676025	chr1:242799086-242799087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6686107	chr1:242799117-242799118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs184862113	chr1:242799159-242799160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555558669	chr1:242799160-242799161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563693614	chr1:242799237-242799238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573998838	chr1:242799239-242799240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117479410	chr1:242799243-242799244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559603611	chr1:242799299-242799300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527448593	chr1:242799300-242799301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547634764	chr1:242799311-242799312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187988530	chr1:242799423-242799424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533255410	chr1:242799424-242799425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242797600-242798800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:242798000-242798400	Enhancers	Liver	Liver
3	chr1:242798000-242799400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:242798200-242799400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:242798600-242799400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:242799400-242807000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:242800400-242800600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:242801000-242806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:242801800-242802200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:242802000-242802200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:242802200-242815400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:242803600-242803800	Enhancers	Fetal Brain Male	brain
13	chr1:242803800-242804400	Weak transcription	Fetal Brain Male	brain
14	chr1:242804400-242805200	Enhancers	Fetal Brain Male	brain
15	chr1:242804400-242806000	Enhancers	Fetal Brain Female	brain
16	chr1:242806400-242806600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:242806400-242807600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:242806800-242807400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:242806800-242807400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:242807400-242807600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:242807400-242811400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:242807600-242815600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:242809000-242809200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:242811400-242811800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:242815000-242815600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:242815000-242815600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:242815000-242816200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:242815400-242815800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:242815400-242815800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:242815400-242815800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:242815400-242815800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:242815400-242815800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:242815400-242816000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:242815400-242816200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:242815400-242816200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:242815600-242815800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:242820800-242821000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:242821200-242822400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:242822400-242823000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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