Variant report

Variant	nsv981551
Chromosome Location	chr7:97481277-97482883
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	chr7:97481488..97486650-chr7:97486817..97491260,8	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ASNS	hsa-miR-23a-3p	chr7:97481547-97481569

Variant related genes	Relation type
ENSG00000070669	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553860957	chr7:97481291-97481292	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577246995	chr7:97481313-97481314	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546113283	chr7:97481431-97481432	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75198492	chr7:97481466-97481467	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576307404	chr7:97481471-97481472	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115270247	chr7:97481491-97481492	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561841113	chr7:97481503-97481504	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527374271	chr7:97481512-97481513	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs367894312	chr7:97481524-97481525	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371278355	chr7:97481531-97481532	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374219443	chr7:97481532-97481533	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547403927	chr7:97481541-97481542	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369978566	chr7:97481545-97481546	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563917352	chr7:97481599-97481600	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532710533	chr7:97481605-97481606	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552452349	chr7:97481608-97481609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs398122974	chr7:97481609-97481610	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1803163	chr7:97481617-97481618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201432154	chr7:97481664-97481665	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374715282	chr7:97481669-97481670	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs140975053	chr7:97481670-97481671	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201209327	chr7:97481679-97481680	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373078034	chr7:97481687-97481688	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568570377	chr7:97481701-97481702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376247830	chr7:97481731-97481732	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372844492	chr7:97481748-97481749	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376090391	chr7:97481767-97481768	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543190840	chr7:97481771-97481772	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147448684	chr7:97481775-97481776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10486011	chr7:97481812-97481813	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs184922074	chr7:97481835-97481836	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189815686	chr7:97481839-97481840	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs114173073	chr7:97481872-97481873	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556507985	chr7:97481873-97481874	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs17344752	chr7:97481926-97481927	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs542033742	chr7:97481929-97481930	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561715885	chr7:97481947-97481948	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369636184	chr7:97481968-97481969	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572145653	chr7:97481984-97481985	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs141861063	chr7:97482006-97482007	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563788803	chr7:97482016-97482017	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532772058	chr7:97482017-97482018	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534345584	chr7:97482089-97482090	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376789951	chr7:97482095-97482096	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs144971139	chr7:97482121-97482122	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549893845	chr7:97482135-97482136	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs138890390	chr7:97482151-97482152	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142010574	chr7:97482152-97482153	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568554706	chr7:97482174-97482175	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs6959868	chr7:97482207-97482208	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Autism	20858243	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

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97472800-97483000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:97474800-97482600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:97475000-97492800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:97477200-97485400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:97477600-97500600	Weak transcription	Thymus	Thymus
6	chr7:97477800-97481400	Weak transcription	Fetal Lung	lung
7	chr7:97478600-97483400	Weak transcription	Osteobl	bone
8	chr7:97479000-97501000	Weak transcription	Fetal Intestine Large	intestine
9	chr7:97479200-97486200	Weak transcription	Small Intestine	intestine
10	chr7:97479200-97500800	Weak transcription	Right Ventricle	heart
11	chr7:97479400-97483400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:97479400-97484400	Weak transcription	Hela-S3	cervix
13	chr7:97479400-97487200	Weak transcription	Left Ventricle	heart
14	chr7:97479400-97501000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:97479400-97501000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:97479600-97481400	Weak transcription	HMEC	breast
17	chr7:97479600-97483400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:97479600-97486800	Weak transcription	NH-A	brain
19	chr7:97479600-97487000	Weak transcription	Fetal Stomach	stomach
20	chr7:97479600-97501000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:97479800-97482200	Weak transcription	Psoas Muscle	Psoas
22	chr7:97479800-97500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr7:97480000-97481600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:97480000-97482400	Weak transcription	NHEK	skin
25	chr7:97480000-97491800	Weak transcription	Stomach Mucosa	stomach
26	chr7:97480200-97482000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:97480200-97500600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:97480600-97482800	Strong transcription	Brain Hippocampus Middle	brain
29	chr7:97480600-97483400	Weak transcription	Liver	Liver
30	chr7:97480600-97484200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:97480600-97488600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:97480600-97488800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:97480600-97489600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:97480600-97498200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:97480600-97498200	Strong transcription	K562	blood
36	chr7:97480600-97498600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:97480800-97481400	Enhancers	Colon Smooth Muscle	Colon
38	chr7:97480800-97481800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:97480800-97481800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr7:97480800-97482000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:97480800-97482200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:97480800-97482400	Strong transcription	Ovary	ovary
43	chr7:97480800-97482600	Strong transcription	Fetal Muscle Leg	muscle
44	chr7:97480800-97482800	Strong transcription	Brain Germinal Matrix	brain
45	chr7:97480800-97483000	Strong transcription	A549	lung
46	chr7:97480800-97483200	Weak transcription	NHLF	lung
47	chr7:97480800-97483400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:97480800-97483600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr7:97480800-97484000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:97480800-97484000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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