Variant report

Variant	nsv981510
Chromosome Location	chr7:66019344-66019844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:66019294-66019564	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000232491	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148024128	chr7:66019348-66019349	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs559670587	chr7:66019361-66019362	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs801209	chr7:66019390-66019391	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs549231825	chr7:66019456-66019457	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201276227	chr7:66019482-66019483	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs141810360	chr7:66019489-66019490	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs199854607	chr7:66019491-66019492	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs116966850	chr7:66019507-66019508	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201218956	chr7:66019533-66019534	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs547439875	chr7:66019551-66019552	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs570834326	chr7:66019576-66019577	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539501024	chr7:66019582-66019583	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550244214	chr7:66019590-66019591	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202130250	chr7:66019613-66019614	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189009965	chr7:66019625-66019626	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs801208	chr7:66019631-66019632	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs191958321	chr7:66019633-66019634	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572369601	chr7:66019642-66019643	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16868546	chr7:66019649-66019650	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs147218621	chr7:66019713-66019714	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375348342	chr7:66019737-66019738	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184081496	chr7:66019804-66019805	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189775453	chr7:66019809-66019810	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563379871	chr7:66019843-66019844	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65999800-66022400	Strong transcription	Fetal Stomach	stomach
2	chr7:66001400-66022400	Weak transcription	Stomach Mucosa	stomach
3	chr7:66003800-66022200	Strong transcription	Stomach Smooth Muscle	stomach
4	chr7:66003800-66022800	Strong transcription	Fetal Intestine Small	intestine
5	chr7:66004400-66052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:66004800-66037200	Weak transcription	Psoas Muscle	Psoas
7	chr7:66005200-66022400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr7:66006000-66020000	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:66006000-66022200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:66006200-66019400	Strong transcription	Adipose Nuclei	Adipose
11	chr7:66006200-66021000	Strong transcription	Fetal Intestine Large	intestine
12	chr7:66006200-66022200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:66006200-66022400	Strong transcription	Lung	lung
14	chr7:66006200-66022600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:66006200-66024400	Strong transcription	Fetal Muscle Leg	muscle
16	chr7:66006200-66024400	Strong transcription	Thymus	Thymus
17	chr7:66006400-66022800	Strong transcription	Brain Germinal Matrix	brain
18	chr7:66006600-66022800	Weak transcription	Fetal Brain Male	brain
19	chr7:66007600-66021000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:66008200-66022000	Weak transcription	Right Atrium	heart
21	chr7:66008200-66022200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:66008400-66022600	Weak transcription	Fetal Heart	heart
23	chr7:66008600-66056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:66008800-66022400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:66008800-66022400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:66008800-66022600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:66009000-66020200	Strong transcription	Fetal Thymus	thymus
28	chr7:66009000-66020600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr7:66009000-66022800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:66009000-66023000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:66009000-66031400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:66009200-66020200	Strong transcription	Brain Hippocampus Middle	brain
33	chr7:66009200-66023600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:66009200-66029400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:66011000-66037000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:66011600-66045000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:66012200-66020000	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr7:66012400-66019800	Strong transcription	Right Ventricle	heart
39	chr7:66012400-66020000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:66012400-66024600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:66012600-66020000	Strong transcription	Pancreas	Pancrea
42	chr7:66012600-66021000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr7:66012600-66022600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:66012600-66022600	Strong transcription	Liver	Liver
45	chr7:66012600-66024200	Strong transcription	Dnd41	blood
46	chr7:66012800-66020000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:66013000-66031800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:66013200-66020000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr7:66013200-66020600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr7:66013200-66022400	Strong transcription	Ovary	ovary

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