Variant report

Variant	esv3435419
Chromosome Location	chr7:5419843-5420074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5419562..5424276-chr7:5462194..5465605,6	MCF-7	breast:
2	chr7:5415556..5417530-chr7:5418866..5421524,3	MCF-7	breast:
3	chr7:5419534..5423325-chr7:5460448..5463513,3	MCF-7	breast:
4	chr7:5417354..5418908-chr7:5419651..5421890,2	MCF-7	breast:
5	chr7:5418980..5420716-chr7:5420847..5423992,3	K562	blood:
6	chr21:43781757..43784363-chr7:5418790..5420733,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272953	chromatin interactions
ENSG00000182095	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371345378	chr7:5419868-5419869	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368216678	chr7:5419875-5419876	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs553283316	chr7:5419881-5419882	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115869030	chr7:5419910-5419911	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs55902729	chr7:5419932-5419933	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368090772	chr7:5419987-5419988	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs371694380	chr7:5420006-5420007	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192258441	chr7:5420033-5420034	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs556466206	chr7:5420054-5420055	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576072889	chr7:5420060-5420061	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21525872	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5372200-5422000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr7:5372200-5424200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr7:5390400-5421800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:5392400-5420000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:5395000-5420400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:5395000-5421800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:5395000-5421800	Weak transcription	Psoas Muscle	Psoas
8	chr7:5395000-5421800	Weak transcription	Right Atrium	heart
9	chr7:5395000-5422400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:5395200-5422400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:5395600-5421000	Strong transcription	Fetal Intestine Small	intestine
12	chr7:5398200-5420400	Weak transcription	Fetal Heart	heart
13	chr7:5401400-5421800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:5402200-5421800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:5403000-5424400	Weak transcription	Hela-S3	cervix
16	chr7:5403800-5421800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:5404600-5421800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:5406600-5420600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:5406800-5420400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:5406800-5420800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:5407000-5421400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:5407000-5421800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:5407400-5420200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:5408200-5423200	Strong transcription	HepG2	liver
25	chr7:5408800-5421800	Strong transcription	Fetal Intestine Large	intestine
26	chr7:5410200-5421600	Weak transcription	Fetal Kidney	kidney
27	chr7:5410200-5422200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:5410200-5426800	Weak transcription	HUVEC	blood vessel
29	chr7:5410200-5429200	Weak transcription	Primary B cells from cord blood	blood
30	chr7:5410400-5421800	Weak transcription	NHDF-Ad	bronchial
31	chr7:5410800-5421800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:5413000-5421800	Weak transcription	A549	lung
33	chr7:5413200-5421600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:5413600-5421000	Weak transcription	NH-A	brain
35	chr7:5413600-5421400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:5413600-5422000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:5413600-5426800	Weak transcription	HSMMtube	muscle
38	chr7:5413600-5435000	Weak transcription	HSMM	muscle
39	chr7:5413800-5424200	Weak transcription	Small Intestine	intestine
40	chr7:5413800-5426800	Weak transcription	HMEC	breast
41	chr7:5414200-5421800	Weak transcription	Brain Substantia Nigra	brain
42	chr7:5415600-5421000	Weak transcription	Brain Angular Gyrus	brain
43	chr7:5415600-5421600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:5415800-5420400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:5416200-5421800	Weak transcription	Fetal Lung	lung
46	chr7:5416400-5420600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr7:5416400-5422000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:5416600-5420600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:5416600-5421600	Weak transcription	Brain Anterior Caudate	brain
50	chr7:5416600-5421600	Weak transcription	Osteobl	bone

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