Variant report

Variant	nsv352539
Chromosome Location	chr7:97846857-97846859
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:97840856..97842377-chr7:97845637..97848224,2	MCF-7	breast:
2	chr7:97846624..97850033-chr7:97850682..97852457,3	MCF-7	breast:
3	chr7:97844672..97846998-chr7:97849549..97852989,3	K562	blood:
4	chr7:97840173..97842487-chr7:97845725..97848039,2	MCF-7	breast:
5	chr7:97845652..97847962-chr7:97851352..97854034,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180535	chromatin interactions
ENSG00000205356	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546216330	chr7:97846857-97846858	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs35432830	chr7:97846859-97846860	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97823000-97851000	Weak transcription	HSMMtube	muscle
2	chr7:97825200-97851000	Weak transcription	Fetal Lung	lung
3	chr7:97836000-97851000	Weak transcription	NHLF	lung
4	chr7:97836600-97847200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:97836800-97857200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:97839200-97851000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:97840200-97847000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:97840200-97847200	Weak transcription	Brain Anterior Caudate	brain
9	chr7:97840200-97847200	Weak transcription	Brain Substantia Nigra	brain
10	chr7:97840200-97851000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:97840400-97847000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:97840400-97852800	Weak transcription	Brain Angular Gyrus	brain
13	chr7:97841000-97847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:97841000-97858600	Weak transcription	Psoas Muscle	Psoas
15	chr7:97841200-97850600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:97841200-97850800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:97841200-97850800	Weak transcription	Osteobl	bone
18	chr7:97841200-97852200	Weak transcription	A549	lung
19	chr7:97841200-97867800	Weak transcription	HUVEC	blood vessel
20	chr7:97841200-97880200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:97841400-97847000	Weak transcription	Primary T cells from cord blood	blood
22	chr7:97841400-97847200	Weak transcription	Primary B cells from cord blood	blood
23	chr7:97841400-97850600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:97841400-97858600	Weak transcription	NH-A	brain
25	chr7:97841400-97866200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:97841400-97879400	Weak transcription	Fetal Brain Male	brain
27	chr7:97841400-97880200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:97841600-97847000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:97841600-97847000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:97841600-97847200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:97841600-97851000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:97841600-97853800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:97841800-97850600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:97841800-97867400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr7:97842200-97868400	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:97842600-97850600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:97842800-97847200	Weak transcription	HepG2	liver
38	chr7:97843200-97847000	Weak transcription	GM12878-XiMat	blood
39	chr7:97843200-97847400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:97843400-97847400	Strong transcription	Brain Germinal Matrix	brain
41	chr7:97843400-97850800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:97843400-97855000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:97843800-97847200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:97843800-97847600	Strong transcription	Fetal Stomach	stomach
45	chr7:97843800-97857000	Weak transcription	Right Atrium	heart
46	chr7:97844000-97847200	Strong transcription	Fetal Brain Female	brain
47	chr7:97844400-97847000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:97844400-97847200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr7:97844400-97847600	Strong transcription	Lung	lung
50	chr7:97844400-97847600	Strong transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links