Variant report

Variant	esv1402315
Chromosome Location	chr7:70195213-70195214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	rs202023995	chr7:70195213-70195214	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386714446	chr7:70195214-70195215	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	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
T-cell prolymphocytic leukemia	17713554	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70162200-70201600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:70176200-70201600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:70179800-70201600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:70183000-70201600	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:70183200-70200200	Weak transcription	Ovary	ovary
6	chr7:70183200-70201800	Weak transcription	Pancreas	Pancrea
7	chr7:70183400-70195400	Weak transcription	HSMM	muscle
8	chr7:70183600-70197600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:70185800-70197600	Weak transcription	HSMMtube	muscle
10	chr7:70186000-70195400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:70186400-70198200	Weak transcription	Dnd41	blood
12	chr7:70187000-70201200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:70190200-70201400	Weak transcription	Fetal Kidney	kidney
14	chr7:70190600-70199400	Weak transcription	Left Ventricle	heart
15	chr7:70190600-70199600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:70190600-70201600	Weak transcription	Fetal Intestine Large	intestine
17	chr7:70190800-70195400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:70190800-70198000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:70190800-70199400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:70191000-70197400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:70192200-70197400	Weak transcription	Brain Anterior Caudate	brain
22	chr7:70192200-70200200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:70192400-70196800	Weak transcription	Primary T cells from cord blood	blood
24	chr7:70192400-70197200	Weak transcription	Fetal Thymus	thymus
25	chr7:70192400-70198800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:70192400-70199400	Weak transcription	Fetal Heart	heart
27	chr7:70193000-70195400	Weak transcription	HMEC	breast
28	chr7:70193000-70195600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:70193000-70200600	Weak transcription	Liver	Liver
30	chr7:70193200-70196000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:70194000-70199400	Weak transcription	NH-A	brain
32	chr7:70194200-70201800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:70194400-70195400	Weak transcription	Fetal Intestine Small	intestine
34	chr7:70194400-70195600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:70194400-70195600	Weak transcription	Fetal Brain Female	brain
36	chr7:70194400-70195800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:70194400-70199000	Weak transcription	Psoas Muscle	Psoas
38	chr7:70194400-70199800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:70194400-70201400	Weak transcription	Fetal Lung	lung
40	chr7:70194400-70201600	Weak transcription	Gastric	stomach
41	chr7:70194400-70201800	Weak transcription	Colonic Mucosa	Colon
42	chr7:70194400-70201800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:70194400-70203000	Weak transcription	Fetal Stomach	stomach
44	chr7:70194400-70203400	Weak transcription	Lung	lung
45	chr7:70194600-70195400	Weak transcription	NHEK	skin
46	chr7:70194600-70195600	Enhancers	Duodenum Mucosa	Duodenum
47	chr7:70194600-70196000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr7:70194600-70197200	Weak transcription	Esophagus	oesophagus
49	chr7:70194600-70197200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:70194600-70197200	Weak transcription	Small Intestine	intestine

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