Variant report

Variant	esv3385191
Chromosome Location	chr1:242032966-242033138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:242030614..242036400-chr1:242037381..242042163,8	K562	blood:
2	chr1:242019796..242021724-chr1:242031300..242034090,2	K562	blood:
3	chr1:241681862..241683903-chr1:242032872..242034945,2	K562	blood:
4	chr1:242026426..242029268-chr1:242029901..242034404,4	K562	blood:

Variant related genes	Relation type
ENSG00000091483	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2298935	chr1:242033008-242033009	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2298934	chr1:242033038-242033039	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2298933	chr1:242033042-242033043	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs111694479	chr1:242033049-242033050	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12067986	chr1:242033054-242033055	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181337805	chr1:242033070-242033071	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558026395	chr1:242033080-242033081	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs58966832	chr1:242033082-242033083	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs60346606	chr1:242033086-242033087	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs71648664	chr1:242033087-242033088	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140776945	chr1:242033090-242033091	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs71648665	chr1:242033098-242033099	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12738192	chr1:242033102-242033103	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Glioblastoma	18772890	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Brain overgrowth syndrome	24179207	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242012200-242044000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:242012400-242060200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:242012600-242051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:242012600-242051800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:242012800-242054600	Weak transcription	HSMM	muscle
6	chr1:242012800-242056000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:242013000-242053400	Weak transcription	Fetal Lung	lung
8	chr1:242013200-242034200	Weak transcription	Brain Germinal Matrix	brain
9	chr1:242013200-242036600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:242013200-242038800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:242013200-242042000	Weak transcription	HepG2	liver
12	chr1:242013200-242048000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:242013200-242053200	Weak transcription	Osteobl	bone
14	chr1:242013200-242056400	Weak transcription	NHLF	lung
15	chr1:242013400-242049400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:242013400-242055800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:242013600-242038600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:242013600-242039000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:242014800-242034400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:242015600-242038800	Weak transcription	Fetal Intestine Large	intestine
21	chr1:242015800-242041200	Weak transcription	NHEK	skin
22	chr1:242017000-242053800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:242017800-242038400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:242018000-242033400	Weak transcription	Placenta	Placenta
25	chr1:242018000-242046600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:242018400-242065600	Weak transcription	Fetal Stomach	stomach
27	chr1:242019400-242037400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:242019600-242037000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:242019600-242037400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:242020400-242038200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:242020800-242037000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:242020800-242037000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:242020800-242038800	Strong transcription	Dnd41	blood
34	chr1:242023000-242034800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:242024600-242035400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:242024600-242043400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:242025200-242035600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:242026400-242082000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:242026800-242052600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:242028400-242037400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:242029600-242034400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:242029600-242034400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:242030000-242038800	Strong transcription	K562	blood
44	chr1:242030200-242033800	Strong transcription	HMEC	breast
45	chr1:242030200-242034000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr1:242030200-242034000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:242030200-242034400	Strong transcription	A549	lung
48	chr1:242030400-242063600	Weak transcription	NHDF-Ad	bronchial
49	chr1:242030600-242037200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:242030800-242042200	Weak transcription	Fetal Muscle Leg	muscle

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