Variant report

Variant	esv3359913
Chromosome Location	chr1:214688479-214688831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214683964..214686596-chr1:214687813..214690608,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 89 )

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	rs17734993	chr1:214688529-214688530	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74802958	chr1:214688562-214688563	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562954536	chr1:214688651-214688652	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs201792150	chr1:214688652-214688653	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs561681238	chr1:214688665-214688666	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs532980337	chr1:214688677-214688678	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs538962003	chr1:214688695-214688696	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375476537	chr1:214688700-214688701	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs552587558	chr1:214688734-214688735	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12073252	chr1:214688770-214688771	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149748009	chr1:214688787-214688788	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs181777291	chr1:214688792-214688793	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
2	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
3	chr1:214677200-214690200	Weak transcription	Small Intestine	intestine
4	chr1:214681600-214690200	Weak transcription	Pancreas	Pancrea
5	chr1:214686600-214688600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:214686600-214690400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:214686800-214688600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr1:214686800-214688800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:214686800-214689000	Enhancers	NHLF	lung
10	chr1:214686800-214690000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:214686800-214693000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:214686800-214694400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:214687000-214688800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:214687000-214690400	Enhancers	NHDF-Ad	bronchial
15	chr1:214687200-214688600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:214687200-214689000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:214687400-214688600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
18	chr1:214687400-214688600	Enhancers	HSMM	muscle
19	chr1:214687400-214690400	Enhancers	HUVEC	blood vessel
20	chr1:214687600-214688600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:214687600-214688600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr1:214687600-214688600	Enhancers	Colon Smooth Muscle	Colon
23	chr1:214687600-214688800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:214687600-214689800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:214687600-214689800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:214687600-214690600	Enhancers	Adipose Nuclei	Adipose
27	chr1:214687600-214690800	Enhancers	Fetal Intestine Large	intestine
28	chr1:214687800-214688600	Enhancers	Rectal Smooth Muscle	rectum
29	chr1:214687800-214688600	Enhancers	Stomach Mucosa	stomach
30	chr1:214687800-214689600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:214687800-214689800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:214687800-214689800	Enhancers	NHEK	skin
33	chr1:214687800-214690000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:214687800-214698400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:214688000-214688600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:214688000-214688600	Enhancers	Fetal Lung	lung
37	chr1:214688000-214688600	Flanking Active TSS	Osteobl	bone
38	chr1:214688000-214689200	Enhancers	Primary T cells from cord blood	blood
39	chr1:214688000-214689400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:214688000-214689800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr1:214688000-214690600	Enhancers	HMEC	breast
42	chr1:214688200-214688600	Enhancers	Primary hematopoietic stem cells	blood
43	chr1:214688200-214688800	Enhancers	Fetal Kidney	kidney
44	chr1:214688200-214689000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:214688200-214689000	Enhancers	A549	lung
46	chr1:214688200-214689400	Weak transcription	Psoas Muscle	Psoas
47	chr1:214688200-214689400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:214688200-214689600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:214688200-214690200	Weak transcription	Fetal Heart	heart
50	chr1:214688200-214690600	Enhancers	HUES64 Cell Line	embryonic stem cell

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