Variant report

Variant	nsv515604
Chromosome Location	chr1:242315354-242329814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 683 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:683 , 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	rs1836767	chr1:242315354-242315355	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554647785	chr1:242315382-242315383	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs147949781	chr1:242315389-242315390	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs373959905	chr1:242315421-242315422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs540562507	chr1:242315424-242315425	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs528447794	chr1:242315477-242315478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191365971	chr1:242315480-242315481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs79113419	chr1:242315495-242315496	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs545649449	chr1:242315496-242315497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs542414594	chr1:242315592-242315593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs562999426	chr1:242315625-242315626	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs1836766	chr1:242315638-242315639	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542298434	chr1:242315669-242315670	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs141145774	chr1:242315675-242315676	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs183923262	chr1:242315711-242315712	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs145065616	chr1:242315734-242315735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs372479451	chr1:242315738-242315739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs147557415	chr1:242315773-242315774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs533576569	chr1:242315802-242315803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550066851	chr1:242315809-242315810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572716760	chr1:242315819-242315820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2840603	chr1:242315883-242315884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537593365	chr1:242315894-242315895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563768699	chr1:242315956-242315957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188656747	chr1:242315980-242315981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371080093	chr1:242316008-242316009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200326443	chr1:242316013-242316014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531302178	chr1:242316098-242316099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533732495	chr1:242316120-242316121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193152927	chr1:242316171-242316172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577014129	chr1:242316180-242316181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549424339	chr1:242316230-242316231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139335684	chr1:242316259-242316260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546127539	chr1:242316277-242316278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556125155	chr1:242316307-242316308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561824476	chr1:242316348-242316349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200540581	chr1:242316356-242316357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150111958	chr1:242316419-242316420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567448941	chr1:242316477-242316478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561829776	chr1:242316484-242316485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527702169	chr1:242316488-242316489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185334119	chr1:242316501-242316502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573914173	chr1:242316502-242316503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78326687	chr1:242316531-242316532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138595119	chr1:242316597-242316598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112370836	chr1:242316601-242316602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565818674	chr1:242316680-242316681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550449475	chr1:242316744-242316745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148864615	chr1:242316750-242316751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370932820	chr1:242316751-242316752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Cancer	20164919	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

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242311200-242324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:242314400-242315800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:242320400-242324000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:242320800-242323600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
5	chr1:242321000-242323000	ZNF genes & repeats	Aorta	Aorta
6	chr1:242321400-242322000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:242321600-242322000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:242322000-242322600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:242322000-242332400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:242322200-242327000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:242322600-242323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:242323000-242325800	Weak transcription	Aorta	Aorta
13	chr1:242323000-242328000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:242323600-242324400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:242323600-242327000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:242324400-242327000	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:242324600-242325800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:242325000-242326200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:242325400-242325800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:242325400-242325800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:242325400-242329200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:242325600-242325800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:242325600-242325800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr1:242325800-242327000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:242325800-242327400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:242325800-242327800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:242325800-242331000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:242326200-242327600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:242327000-242327600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:242327000-242328400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:242327000-242329200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr1:242327000-242329400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:242327400-242329600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:242327600-242328400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:242327600-242329000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:242327600-242330000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:242327800-242328000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:242327800-242328200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr1:242327800-242329000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:242327800-242329200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:242327800-242351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:242328000-242328400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:242328000-242328600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:242328000-242329000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:242328200-242329200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:242328400-242329600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:242328400-242329600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:242329000-242329400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:242329200-242329400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:242329200-242329400	Enhancers	H9 Cell Line	embryonic stem cell

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