Variant report

Variant	esv998142
Chromosome Location	chr1:242382242-242382732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566531797	chr1:242382254-242382255	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12124769	chr1:242382295-242382296	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10926653	chr1:242382308-242382309	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575634231	chr1:242382364-242382365	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10926654	chr1:242382369-242382370	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555306218	chr1:242382371-242382372	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575159955	chr1:242382378-242382379	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540845070	chr1:242382391-242382392	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377099009	chr1:242382461-242382462	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577347129	chr1:242382470-242382471	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529406463	chr1:242382478-242382479	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537101609	chr1:242382509-242382510	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545138044	chr1:242382516-242382517	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549101218	chr1:242382529-242382530	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10803025	chr1:242382533-242382534	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140535553	chr1:242382545-242382546	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10926655	chr1:242382556-242382557	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186636175	chr1:242382566-242382567	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552976629	chr1:242382578-242382579	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115890283	chr1:242382605-242382606	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150449748	chr1:242382616-242382617	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566704720	chr1:242382622-242382623	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114130283	chr1:242382646-242382647	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191935861	chr1:242382653-242382654	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10803026	chr1:242382660-242382661	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183799041	chr1:242382695-242382696	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369067198	chr1:242382702-242382703	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10926656	chr1:242382719-242382720	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576038717	chr1:242382720-242382721	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115033328	chr1:242382731-242382732	Weak transcription Enhancers Strong 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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242371000-242386600	Weak transcription	HMEC	breast
2	chr1:242376000-242383200	Weak transcription	Pancreas	Pancrea
3	chr1:242376800-242382600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:242377800-242383800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:242379000-242382600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:242379800-242383400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:242380200-242382600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:242380200-242394400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:242380600-242388000	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:242380800-242386800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:242381200-242383200	Weak transcription	Aorta	Aorta
12	chr1:242381200-242383400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:242381800-242382600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:242382200-242383400	Enhancers	A549	lung
15	chr1:242382400-242382800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:242382600-242383800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:242382600-242384400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:242382600-242387800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:242382600-242387800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:242382600-242388400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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