Variant report

Variant	esv3345836
Chromosome Location	chr1:220253233-220253653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220236160..220238551-chr1:220252332..220254009,2	K562	blood:
2	chr1:220250499..220254001-chr1:220255278..220257878,3	K562	blood:
3	chr1:220253135..220256088-chr1:220267328..220268920,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067704	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547646316	chr1:220253364-220253365	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558546475	chr1:220253367-220253368	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142877637	chr1:220253407-220253408	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182807419	chr1:220253437-220253438	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554765555	chr1:220253461-220253462	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187530310	chr1:220253477-220253478	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147438719	chr1:220253529-220253530	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560358196	chr1:220253533-220253534	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2789785	chr1:220253558-220253559	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546078376	chr1:220253608-220253609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs193084094	chr1:220253632-220253633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs80044439	chr1:220253635-220253636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	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
Prostate cancer	18632612	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
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220220400-220257600	Weak transcription	Stomach Mucosa	stomach
2	chr1:220220600-220262400	Weak transcription	Pancreas	Pancrea
3	chr1:220220600-220262400	Weak transcription	NHLF	lung
4	chr1:220220800-220261600	Weak transcription	Fetal Brain Male	brain
5	chr1:220234400-220253600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:220236400-220262800	Weak transcription	Esophagus	oesophagus
7	chr1:220238000-220262800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:220238000-220267400	Weak transcription	Spleen	Spleen
9	chr1:220238200-220262800	Weak transcription	Gastric	stomach
10	chr1:220239400-220262000	Weak transcription	Brain Germinal Matrix	brain
11	chr1:220239600-220255200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:220239600-220261600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:220239600-220262400	Weak transcription	Right Ventricle	heart
14	chr1:220241200-220256800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:220241200-220258200	Weak transcription	Hela-S3	cervix
16	chr1:220241200-220261800	Weak transcription	A549	lung
17	chr1:220241200-220262000	Weak transcription	HMEC	breast
18	chr1:220241200-220262400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:220241200-220262400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:220241400-220262400	Weak transcription	NHEK	skin
21	chr1:220242600-220262800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:220243800-220262400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:220246200-220262000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:220246400-220255000	Weak transcription	Brain Angular Gyrus	brain
25	chr1:220246400-220255000	Weak transcription	HSMMtube	muscle
26	chr1:220246400-220256000	Weak transcription	Fetal Kidney	kidney
27	chr1:220246400-220261600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:220246400-220261800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:220246400-220262000	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:220246400-220262400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:220246400-220262400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:220246400-220262400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:220246400-220262400	Weak transcription	Brain Anterior Caudate	brain
34	chr1:220246400-220262400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:220246400-220262400	Weak transcription	Brain Substantia Nigra	brain
36	chr1:220246400-220262400	Weak transcription	Fetal Brain Female	brain
37	chr1:220246600-220253600	Weak transcription	Primary B cells from cord blood	blood
38	chr1:220246600-220262400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:220246600-220262400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:220246600-220262400	Weak transcription	Colonic Mucosa	Colon
41	chr1:220246800-220262400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:220246800-220262400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:220246800-220262400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:220246800-220262400	Weak transcription	Fetal Heart	heart
45	chr1:220246800-220262400	Weak transcription	Thymus	Thymus
46	chr1:220247000-220256800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:220247000-220257600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:220247000-220258600	Weak transcription	Ovary	ovary
49	chr1:220247000-220262400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:220247000-220262400	Weak transcription	Aorta	Aorta

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