Variant report

Variant	esv3354677
Chromosome Location	chr1:242370779-242371827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530299323	chr1:242370793-242370794	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35146936	chr1:242370794-242370795	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377623955	chr1:242370838-242370839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181898734	chr1:242370847-242370848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532928369	chr1:242370878-242370879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140171746	chr1:242370952-242370953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539217160	chr1:242370961-242370962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9659499	chr1:242371044-242371045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7537534	chr1:242371048-242371049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7539917	chr1:242371050-242371051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9659500	chr1:242371052-242371053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs5782226	chr1:242371055-242371056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7537540	chr1:242371058-242371059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7525391	chr1:242371066-242371067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9659502	chr1:242371070-242371071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7522985	chr1:242371074-242371075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71811830	chr1:242371085-242371086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9659503	chr1:242371088-242371089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367746235	chr1:242371096-242371097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7522996	chr1:242371100-242371101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7525397	chr1:242371102-242371103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7523002	chr1:242371110-242371111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7525399	chr1:242371112-242371113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375317447	chr1:242371115-242371116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202146499	chr1:242371152-242371153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7525409	chr1:242371154-242371155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374663245	chr1:242371178-242371179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368594617	chr1:242371196-242371197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372675738	chr1:242371198-242371199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377149709	chr1:242371212-242371213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369578358	chr1:242371216-242371217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372072992	chr1:242371222-242371223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10680490	chr1:242371233-242371234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11370783	chr1:242371234-242371235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187347409	chr1:242371249-242371250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369170483	chr1:242371266-242371267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71761958	chr1:242371267-242371268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs682824	chr1:242371275-242371276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78877299	chr1:242371276-242371277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs682841	chr1:242371279-242371280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75542865	chr1:242371289-242371290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146992242	chr1:242371293-242371294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs58601734	chr1:242371326-242371327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528043397	chr1:242371327-242371328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557932922	chr1:242371335-242371336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571358541	chr1:242371373-242371374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537053545	chr1:242371404-242371405	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs190728061	chr1:242371498-242371499	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs553013030	chr1:242371527-242371528	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs73138742	chr1:242371530-242371531	Enhancers Weak transcription Bivalent Enhancer	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242353400-242380400	Weak transcription	Aorta	Aorta
2	chr1:242363000-242371400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:242363800-242374800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:242364000-242379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:242364600-242371400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:242366800-242371400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:242367000-242371400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:242367000-242371600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:242369000-242371000	Enhancers	HMEC	breast
10	chr1:242369000-242371600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:242369200-242371400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:242369400-242371400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:242369400-242371400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:242369400-242371400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:242369400-242373600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:242369600-242371400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:242369600-242371400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:242369600-242372400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:242369600-242378600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:242370000-242370800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:242370000-242371600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:242370600-242370800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:242370800-242371600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:242370800-242372400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:242371000-242386600	Weak transcription	HMEC	breast
26	chr1:242371400-242371800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:242371400-242372000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr1:242371400-242372000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:242371400-242372600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:242371400-242372800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:242371400-242372800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:242371400-242372800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:242371400-242372800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:242371400-242373000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:242371400-242373200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:242371400-242373400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:242371400-242373400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:242371400-242373600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:242371400-242376400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:242371600-242371800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:242371600-242374400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:242371600-242377600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:242371800-242372200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:242371800-242374000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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