Variant report

Variant	nsv364694
Chromosome Location	chr7:121950350-121950350
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	chr7:121944178..121945755-chr7:121949719..121951349,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230316	chromatin interactions
ENSG00000128610	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 90 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5887080	chr7:121950350-121950351	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121940000-121951000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:121946600-121951000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:121947400-121951200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:121947800-121950400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
5	chr7:121948800-121950800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:121949400-121952200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
7	chr7:121949800-121951200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:121950000-121950400	Bivalent Enhancer	Fetal Lung	lung
9	chr7:121950000-121950400	Active TSS	Ovary	ovary
10	chr7:121950000-121950600	Bivalent/Poised TSS	Aorta	Aorta
11	chr7:121950000-121950600	Bivalent/Poised TSS	A549	lung
12	chr7:121950000-121950800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr7:121950000-121951000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:121950000-121951000	Bivalent/Poised TSS	HSMM	muscle
15	chr7:121950000-121951000	Flanking Bivalent TSS/Enh	NH-A	brain
16	chr7:121950000-121951000	Bivalent/Poised TSS	NHDF-Ad	bronchial
17	chr7:121950000-121951000	Bivalent/Poised TSS	Osteobl	bone
18	chr7:121950000-121952200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr7:121950000-121952200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:121950000-121952200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:121950000-121952400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:121950200-121950400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:121950200-121950400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr7:121950200-121950400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:121950200-121950400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
26	chr7:121950200-121950400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
27	chr7:121950200-121950400	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
28	chr7:121950200-121950400	Flanking Active TSS	Right Ventricle	heart
29	chr7:121950200-121950400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
30	chr7:121950200-121950400	Flanking Bivalent TSS/Enh	HMEC	breast
31	chr7:121950200-121950400	Bivalent/Poised TSS	HUVEC	blood vessel
32	chr7:121950200-121950600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:121950200-121950600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
34	chr7:121950200-121950600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr7:121950200-121950600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:121950200-121950600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
37	chr7:121950200-121950600	Flanking Bivalent TSS/Enh	Liver	Liver
38	chr7:121950200-121950600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
39	chr7:121950200-121950600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
40	chr7:121950200-121950600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
41	chr7:121950200-121950600	Bivalent/Poised TSS	Colonic Mucosa	Colon
42	chr7:121950200-121950600	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
43	chr7:121950200-121950600	Bivalent Enhancer	Fetal Brain Male	brain
44	chr7:121950200-121950600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
45	chr7:121950200-121950600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
46	chr7:121950200-121950600	Flanking Bivalent TSS/Enh	Placenta	Placenta
47	chr7:121950200-121950600	Enhancers	Lung	lung
48	chr7:121950200-121950600	Active TSS	Pancreas	Pancrea
49	chr7:121950200-121950600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
50	chr7:121950200-121950800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived

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