Variant report

Variant	nsv970517
Chromosome Location	chr7:66120041-66121468
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66055924..66057616-chr7:66118024..66120875,2	K562	blood:
2	chr7:66119236..66121485-chr7:66204940..66206778,2	K562	blood:
3	chr7:66118965..66120049-chr7:66146710..66147584,5	MCF-7	breast:
4	chr7:66119671..66121376-chr7:66145999..66148457,2	MCF-7	breast:
5	chr7:66055738..66058439-chr7:66119494..66121209,2	MCF-7	breast:
6	chr14:50233938..50234677-chr7:66119528..66120183,2	Hela-S3	cervix:
7	chr7:66121223..66123141-chr7:66144196..66146928,3	MCF-7	breast:
8	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:
9	chr7:66055703..66058887-chr7:66117840..66121190,6	MCF-7	breast:
10	chr7:66091844..66094640-chr7:66118336..66122170,5	MCF-7	breast:
11	chr7:66120659..66123648-chr7:66152144..66153650,2	K562	blood:
12	chr2:47403217..47403917-chr7:66119526..66120066,2	Hela-S3	cervix:
13	chr20:62205090..62205853-chr7:66119345..66120093,2	Hela-S3	cervix:
14	chr2:10262501..10263375-chr7:66119471..66120046,2	Hela-S3	cervix:
15	chr5:172260720..172261679-chr7:66119494..66120203,2	Hela-S3	cervix:
16	chr7:66052648..66055044-chr7:66119940..66122450,2	K562	blood:
17	chr7:66118152..66121117-chr7:66145225..66147766,4	MCF-7	breast:
18	chr7:66118570..66121104-chr7:66386256..66388029,2	K562	blood:
19	chr7:66116638..66119241-chr7:66120094..66122874,2	K562	blood:
20	chr7:66119683..66120356-chr7:66146838..66147583,2	Hela-S3	cervix:
21	chr7:66119490..66121348-chr7:66145844..66148158,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143933	chromatin interactions
ENSG00000272831	chromatin interactions
ENSG00000165516	chromatin interactions
ENSG00000243335	chromatin interactions
ENSG00000130589	chromatin interactions
ENSG00000154710	chromatin interactions
ENSG00000106609	chromatin interactions
ENSG00000113719	chromatin interactions
ENSG00000232559	chromatin interactions
ENSG00000171848	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183682700	chr7:66120063-66120064	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs187046179	chr7:66120071-66120072	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs571370880	chr7:66120095-66120096	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs375191715	chr7:66120112-66120113	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs537211949	chr7:66120126-66120127	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs557206299	chr7:66120139-66120140	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs530810038	chr7:66120141-66120142	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs207468003	chr7:66120191-66120192	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs529963672	chr7:66120224-66120225	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs538802795	chr7:66120236-66120237	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs62466084	chr7:66120271-66120272	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs536524557	chr7:66120299-66120300	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs553039741	chr7:66120308-66120309	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs572394178	chr7:66120331-66120332	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs111519846	chr7:66120353-66120354	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs549632478	chr7:66120354-66120355	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs191487779	chr7:66120368-66120369	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs7786451	chr7:66120405-66120406	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539953134	chr7:66120453-66120454	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs577733286	chr7:66120495-66120496	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs558755010	chr7:66120499-66120500	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs565712970	chr7:66120507-66120508	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs563519993	chr7:66120541-66120542	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs145991003	chr7:66120567-66120568	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs367650973	chr7:66120610-66120611	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs543299738	chr7:66120646-66120647	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs559806267	chr7:66120649-66120650	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs528044453	chr7:66120655-66120656	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs138764811	chr7:66120659-66120660	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs369072018	chr7:66120687-66120688	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs534851451	chr7:66120692-66120693	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs183395446	chr7:66120694-66120695	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs187118618	chr7:66120716-66120717	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs554105095	chr7:66120804-66120805	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs550721445	chr7:66120818-66120819	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs191604280	chr7:66120820-66120821	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs536098106	chr7:66120829-66120830	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs149321875	chr7:66120852-66120853	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs367803964	chr7:66120896-66120897	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs534984527	chr7:66120909-66120910	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs3857687	chr7:66120920-66120921	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs2533283	chr7:66120947-66120948	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs543507846	chr7:66120950-66120951	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs4276561	chr7:66120952-66120953	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73133865	chr7:66120969-66120970	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs150540676	chr7:66120972-66120973	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs559969849	chr7:66121010-66121011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs558216393	chr7:66121015-66121016	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs528796316	chr7:66121049-66121050	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs570934995	chr7:66121061-66121062	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
Schizophrenia	21346763	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66118000-66121000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr7:66118200-66120800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:66118200-66120800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:66118200-66120800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:66118200-66120800	Active TSS	Fetal Intestine Large	intestine
6	chr7:66118200-66121000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:66118200-66121000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:66118200-66121200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:66118200-66121200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:66118200-66121200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr7:66118200-66121200	Active TSS	NHDF-Ad	bronchial
12	chr7:66118400-66120400	Active TSS	Small Intestine	intestine
13	chr7:66118400-66120600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:66118400-66120600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:66118400-66120800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr7:66118400-66120800	Active TSS	Right Atrium	heart
17	chr7:66118400-66120800	Active TSS	GM12878-XiMat	blood
18	chr7:66118400-66120800	Active TSS	HMEC	breast
19	chr7:66118400-66121000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:66118400-66121000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:66118400-66121000	Active TSS	Brain Cingulate Gyrus	brain
22	chr7:66118400-66121000	Active TSS	Osteobl	bone
23	chr7:66118400-66121200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:66118400-66121400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:66118600-66120400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:66118600-66120400	Active TSS	HUVEC	blood vessel
27	chr7:66118600-66120600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:66118600-66120600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:66118600-66120600	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr7:66118600-66120600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:66118600-66120600	Active TSS	Liver	Liver
32	chr7:66118600-66120600	Active TSS	Brain Angular Gyrus	brain
33	chr7:66118600-66120600	Active TSS	Brain Substantia Nigra	brain
34	chr7:66118600-66120600	Active TSS	Colonic Mucosa	Colon
35	chr7:66118600-66120600	Active TSS	Duodenum Mucosa	Duodenum
36	chr7:66118600-66120600	Active TSS	Esophagus	oesophagus
37	chr7:66118600-66120600	Active TSS	Fetal Kidney	kidney
38	chr7:66118600-66120600	Active TSS	Psoas Muscle	Psoas
39	chr7:66118600-66120600	Active TSS	Stomach Mucosa	stomach
40	chr7:66118600-66120600	Active TSS	NH-A	brain
41	chr7:66118600-66120800	Active TSS	Brain Anterior Caudate	brain
42	chr7:66118600-66120800	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr7:66118600-66120800	Active TSS	Fetal Brain Female	brain
44	chr7:66118600-66120800	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr7:66118600-66120800	Active TSS	Hela-S3	cervix
46	chr7:66118600-66120800	Active TSS	K562	blood
47	chr7:66118600-66120800	Active TSS	NHEK	skin
48	chr7:66118600-66121000	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr7:66118600-66121000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:66118600-66121000	Active TSS	Brain Hippocampus Middle	brain

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