Variant report

Variant	nsv533345
Chromosome Location	chr7:145934546-146134958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:145993936..145995557-chr7:145997586..145999222,2	K562	blood:
2	chr7:145993957..145995557-chr7:145997071..145999086,2	K562	blood:
3	chr7:145931221..145934684-chr7:145937680..145940356,3	K562	blood:
4	chr7:145993957..145995557-chr7:145997071..145999086,2	K562	blood:
5	chr7:145988038..145989736-chr7:145992431..145994390,2	MCF-7	breast:
6	chr7:146077123..146080368-chr7:146083154..146084711,3	K562	blood:
7	chr7:146074528..146076132-chr7:146081076..146083881,2	K562	blood:
8	chr7:146077123..146080368-chr7:146083154..146084711,3	K562	blood:
9	chr7:146074528..146076132-chr7:146081076..146083881,2	K562	blood:
10	chr7:146077363..146079072-chr7:146098860..146101793,2	K562	blood:
11	chr7:145950902..145953007-chr7:145958921..145960745,2	K562	blood:
12	chr7:145931221..145934684-chr7:145937680..145940356,3	K562	blood:
13	chr7:146077363..146079072-chr7:146098860..146101793,2	K562	blood:
14	chr7:145950902..145953007-chr7:145958921..145960745,2	K562	blood:
15	chr7:145993936..145995557-chr7:145997586..145999222,2	K562	blood:
16	chr5:40835299..40835996-chr7:145980649..145981149,2	Hela-S3	cervix:
17	chr7:145988038..145989736-chr7:145992431..145994390,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TPK1-4	chr7:146113435-146113645	NONHSAT123948

No data

Variant related genes	Relation type
ENSG00000145592	chromatin interactions

Extended variants
information (count: 3715 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:3715 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570077282	chr7:145934601-145934602	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537571503	chr7:145934640-145934641	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372228103	chr7:145934677-145934678	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374483651	chr7:145934685-145934686	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561817402	chr7:145934686-145934687	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538110502	chr7:145934687-145934688	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573706219	chr7:145934690-145934691	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10248572	chr7:145934692-145934693	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540979332	chr7:145934726-145934727	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556475572	chr7:145934742-145934743	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552896192	chr7:145934757-145934758	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577859260	chr7:145934762-145934763	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187295296	chr7:145934773-145934774	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs802581	chr7:145934780-145934781	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370360029	chr7:145934788-145934789	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149772366	chr7:145934825-145934826	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553778484	chr7:145934840-145934841	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542761533	chr7:145934866-145934867	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560926310	chr7:145934877-145934878	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572001620	chr7:145934878-145934879	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111399107	chr7:145934910-145934911	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202157875	chr7:145934911-145934912	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528099332	chr7:145934993-145934994	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115452696	chr7:145935017-145935018	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559838752	chr7:145935027-145935028	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17170000	chr7:145935096-145935097	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs115861330	chr7:145935106-145935107	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570244341	chr7:145935180-145935181	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375492035	chr7:145935225-145935226	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527413192	chr7:145935283-145935284	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537206464	chr7:145935324-145935325	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191835090	chr7:145935336-145935337	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567417035	chr7:145935363-145935364	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11520906	chr7:145935428-145935429	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs368255262	chr7:145935442-145935443	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552933193	chr7:145935447-145935448	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577888623	chr7:145935463-145935464	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538946530	chr7:145935485-145935486	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374566079	chr7:145935513-145935514	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556943231	chr7:145935520-145935521	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563496916	chr7:145935536-145935537	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145844193	chr7:145935537-145935538	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567328274	chr7:145935617-145935618	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572968493	chr7:145935631-145935632	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79640307	chr7:145935682-145935683	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532714257	chr7:145935684-145935685	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73739592	chr7:145935701-145935702	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2462828	chr7:145935840-145935841	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563723513	chr7:145935841-145935842	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531975910	chr7:145935847-145935848	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Epilepsy	20502679	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145912600-145945200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:145918800-145942600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:145922800-145943600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:145925400-145935200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:145931800-145935000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:145931800-145935600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:145931800-145936600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:145931800-145937200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:145931800-145937400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:145932000-145936800	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr7:145932000-145937200	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr7:145932000-145937200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:145932400-145936400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:145932800-145935800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:145935000-145936600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:145935200-145936000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:145935600-145937000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:145935800-145936200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:145936200-145936600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:145936400-145936600	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
21	chr7:145936600-145936800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:145936600-145938200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:145936600-145938400	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:145936600-145941400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:145936800-145937800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:145936800-145938000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:145937000-145938200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:145937200-145937800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:145937200-145938000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:145937200-145939400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:145937400-145937800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:145937800-145938000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:145937800-145938600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr7:145937800-145938800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:145938000-145938200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr7:145938000-145938400	Genic enhancers	H9 Cell Line	embryonic stem cell
37	chr7:145938000-145938600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr7:145938200-145938600	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr7:145938200-145938600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:145938200-145939000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
41	chr7:145938400-145939200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:145938400-145941200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:145938600-145939200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:145938600-145939800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:145938600-145940000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:145938600-145940400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:145938800-145939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:145939000-145939600	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr7:145939200-145941000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
50	chr7:145939200-145941800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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