Variant report

Variant	esv2764195
Chromosome Location	chr1:242320660-242330205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 470 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs316838	chr1:242320660-242320661	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs180857096	chr1:242320686-242320687	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538191618	chr1:242320783-242320784	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs548449449	chr1:242320793-242320794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs145447802	chr1:242320798-242320799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111994214	chr1:242320855-242320856	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs377591654	chr1:242320887-242320888	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs370730683	chr1:242320889-242320890	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs534090959	chr1:242320962-242320963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs553053150	chr1:242321013-242321014	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs56654625	chr1:242321036-242321037	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183933271	chr1:242321071-242321072	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558308571	chr1:242321075-242321076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs189485221	chr1:242321087-242321088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375117953	chr1:242321088-242321089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs181090981	chr1:242321091-242321092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs139247216	chr1:242321099-242321100	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs72761257	chr1:242321137-242321138	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs113856788	chr1:242321141-242321142	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs191441649	chr1:242321142-242321143	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs532540752	chr1:242321153-242321154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs546279180	chr1:242321175-242321176	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs7534695	chr1:242321189-242321190	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545249031	chr1:242321213-242321214	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs181632453	chr1:242321229-242321230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548485802	chr1:242321231-242321232	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568385283	chr1:242321232-242321233	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs560781573	chr1:242321235-242321236	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs186244923	chr1:242321298-242321299	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs527882244	chr1:242321303-242321304	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs144921392	chr1:242321305-242321306	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs146488801	chr1:242321315-242321316	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs571015789	chr1:242321329-242321330	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191054649	chr1:242321341-242321342	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs140959308	chr1:242321348-242321349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs542301543	chr1:242321366-242321367	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183278823	chr1:242321367-242321368	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs143196441	chr1:242321398-242321399	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs549886887	chr1:242321434-242321435	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554908127	chr1:242321461-242321462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111579775	chr1:242321478-242321479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574746393	chr1:242321483-242321484	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187448142	chr1:242321510-242321511	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568488590	chr1:242321525-242321526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553734187	chr1:242321533-242321534	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76746623	chr1:242321534-242321535	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576943708	chr1:242321546-242321547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76749213	chr1:242321565-242321566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151212576	chr1:242321566-242321567	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191122504	chr1:242321578-242321579	ZNF genes & repeats 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:54 , 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	chr1:242320400-242324000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:242320800-242323600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
4	chr1:242321000-242323000	ZNF genes & repeats	Aorta	Aorta
5	chr1:242321400-242322000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:242321600-242322000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:242322000-242322600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:242322000-242332400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:242322200-242327000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:242322600-242323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:242323000-242325800	Weak transcription	Aorta	Aorta
12	chr1:242323000-242328000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:242323600-242324400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:242323600-242327000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:242324400-242327000	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:242324600-242325800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:242325000-242326200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:242325400-242325800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:242325400-242325800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:242325400-242329200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:242325600-242325800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:242325600-242325800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:242325800-242327000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:242325800-242327400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:242325800-242327800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:242325800-242331000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:242326200-242327600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:242327000-242327600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:242327000-242328400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:242327000-242329200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:242327000-242329400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:242327400-242329600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:242327600-242328400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:242327600-242329000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr1:242327600-242330000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:242327800-242328000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:242327800-242328200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr1:242327800-242329000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:242327800-242329200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:242327800-242351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:242328000-242328400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:242328000-242328600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:242328000-242329000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:242328200-242329200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:242328400-242329600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:242328400-242329600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:242329000-242329400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:242329200-242329400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:242329200-242329400	Enhancers	H9 Cell Line	embryonic stem cell
50	chr1:242329200-242330000	Weak transcription	H1 Cell Line	embryonic stem cell

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