Variant report

Variant	esv3335090
Chromosome Location	chr1:247006271-247006723
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247000678..247002401-chr1:247004834..247006838,2	K562	blood:
2	chr1:246999464..247001183-chr1:247004017..247007456,3	MCF-7	breast:
3	chr1:247005474..247007845-chr1:247009959..247011844,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 81 )

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	rs186019261	chr1:247006279-247006280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529975470	chr1:247006287-247006288	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12401878	chr1:247006314-247006315	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs10571304	chr1:247006379-247006380	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114761567	chr1:247006532-247006533	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs368119622	chr1:247006538-247006539	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs147084849	chr1:247006541-247006542	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs374627296	chr1:247006552-247006553	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs552264087	chr1:247006560-247006561	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs372085829	chr1:247006570-247006571	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs138056791	chr1:247006600-247006601	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs115734630	chr1:247006660-247006661	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533017761	chr1:247006705-247006706	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Multiple myeloma	16616336	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
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246989200-247011200	Weak transcription	Fetal Kidney	kidney
2	chr1:246999200-247010000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:246999800-247007600	Weak transcription	Right Ventricle	heart
4	chr1:247000200-247020200	Weak transcription	Spleen	Spleen
5	chr1:247000600-247007800	Weak transcription	Fetal Brain Female	brain
6	chr1:247001400-247012000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:247001400-247016400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:247001400-247020000	Weak transcription	Brain Substantia Nigra	brain
9	chr1:247002000-247038200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:247002200-247031400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:247002200-247033800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:247002200-247034200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:247002800-247006800	Strong transcription	Placenta	Placenta
16	chr1:247002800-247009200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:247002800-247010000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:247002800-247032600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:247002800-247043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:247003000-247007400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:247003000-247007800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:247003000-247011000	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:247003000-247015200	Weak transcription	Fetal Heart	heart
24	chr1:247003000-247015200	Weak transcription	NHLF	lung
25	chr1:247003000-247018600	Weak transcription	Fetal Brain Male	brain
26	chr1:247003200-247009000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:247003200-247010000	Weak transcription	Aorta	Aorta
28	chr1:247003200-247012000	Weak transcription	Psoas Muscle	Psoas
29	chr1:247003200-247015200	Weak transcription	Esophagus	oesophagus
30	chr1:247003200-247020400	Weak transcription	Gastric	stomach
31	chr1:247003200-247029200	Strong transcription	Fetal Thymus	thymus
32	chr1:247003200-247042200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:247003200-247042800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:247003400-247010800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:247003400-247022600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:247003400-247043000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:247003400-247044600	Strong transcription	Dnd41	blood
38	chr1:247004000-247009400	Strong transcription	Osteobl	bone
39	chr1:247004000-247009800	Strong transcription	NHEK	skin
40	chr1:247004000-247013600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:247004000-247022200	Strong transcription	Fetal Intestine Large	intestine
42	chr1:247004000-247040800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:247004000-247041200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:247004000-247042800	Strong transcription	Primary T cells from cord blood	blood
45	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:247004200-247006600	Strong transcription	Fetal Intestine Small	intestine
47	chr1:247004200-247006600	Strong transcription	Fetal Stomach	stomach
48	chr1:247004200-247006800	Strong transcription	Colon Smooth Muscle	Colon
49	chr1:247004200-247007400	Weak transcription	Lung	lung
50	chr1:247004200-247008200	Strong transcription	Duodenum Mucosa	Duodenum

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