Variant report

Variant	nsv966713
Chromosome Location	chr7:39629620-39638513
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:39630501..39633434-chr7:39759020..39762831,5	K562	blood:
2	chr7:39632294..39634662-chr7:39653376..39655988,2	K562	blood:
3	chr7:39635799..39637643-chr7:39637768..39639590,2	MCF-7	breast:
4	chr7:39635256..39637997-chr7:39660350..39662905,2	MCF-7	breast:
5	chr7:39634741..39636459-chr7:39661820..39664615,2	K562	blood:
6	chr7:39620191..39622665-chr7:39628141..39629776,2	K562	blood:
7	chr10:3888800..3889300-chr7:39632378..39632982,2	MCF-7	breast:
8	chr7:39635799..39637643-chr7:39637768..39639590,2	MCF-7	breast:
9	chr7:39629985..39632213-chr7:39633896..39637546,5	K562	blood:
10	chr7:39629985..39632213-chr7:39633896..39637546,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000006451	chromatin interactions

Extended variants
information (count: 348 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115298372	chr7:39629639-39629640	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540413136	chr7:39629659-39629660	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs553914379	chr7:39629710-39629711	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs146074522	chr7:39629838-39629839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546041200	chr7:39629844-39629845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140030699	chr7:39629857-39629858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377227352	chr7:39629863-39629864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182257513	chr7:39629910-39629911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548032768	chr7:39629914-39629915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59356223	chr7:39629915-39629916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142203062	chr7:39629941-39629942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562018078	chr7:39629946-39629947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150908371	chr7:39629960-39629961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139348911	chr7:39629966-39629967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114319148	chr7:39629985-39629986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533277161	chr7:39630025-39630026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112185747	chr7:39630043-39630044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536430555	chr7:39630054-39630055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569682180	chr7:39630070-39630071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535085407	chr7:39630097-39630098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150042711	chr7:39630133-39630134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190312303	chr7:39630135-39630136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534386025	chr7:39630141-39630142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553949461	chr7:39630227-39630228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116567352	chr7:39630255-39630256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539783230	chr7:39630316-39630317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112677033	chr7:39630390-39630391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55856710	chr7:39630477-39630478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73377376	chr7:39630537-39630538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144944404	chr7:39630571-39630572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572590454	chr7:39630574-39630575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541487881	chr7:39630590-39630591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575732194	chr7:39630604-39630605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558472520	chr7:39630618-39630619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112060808	chr7:39630677-39630678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564315395	chr7:39630706-39630707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533160626	chr7:39630767-39630768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148648541	chr7:39630777-39630778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576944144	chr7:39630778-39630779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569564011	chr7:39630779-39630780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541091679	chr7:39630837-39630838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17171606	chr7:39630903-39630904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529154034	chr7:39630964-39630965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548726015	chr7:39630965-39630966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34651120	chr7:39630977-39630978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144313925	chr7:39630980-39630981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181573150	chr7:39630996-39630997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551051778	chr7:39630998-39630999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570756714	chr7:39631019-39631020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528832576	chr7:39631026-39631027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39607000-39631400	Weak transcription	Aorta	Aorta
2	chr7:39618400-39633000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:39626400-39635800	Enhancers	HUVEC	blood vessel
4	chr7:39626600-39630200	Enhancers	HSMM	muscle
5	chr7:39627000-39633200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:39627600-39630600	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:39627800-39629800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr7:39627800-39629800	Enhancers	Adipose Nuclei	Adipose
9	chr7:39628000-39630000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr7:39628000-39630200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:39628000-39630400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:39628000-39630600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:39628000-39630800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:39628000-39631200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:39628200-39630600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:39628200-39630800	Enhancers	Dnd41	blood
17	chr7:39628600-39629800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr7:39628600-39629800	Enhancers	NH-A	brain
19	chr7:39628800-39629800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:39628800-39629800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr7:39628800-39629800	Enhancers	GM12878-XiMat	blood
22	chr7:39628800-39630000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:39628800-39630000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:39628800-39630200	Enhancers	Primary T cells from cord blood	blood
25	chr7:39628800-39630600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr7:39629000-39629800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:39629000-39629800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:39629000-39629800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:39629000-39629800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:39629000-39629800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:39629000-39629800	Enhancers	NHEK	skin
32	chr7:39629000-39630000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:39629000-39630000	Enhancers	HSMMtube	muscle
34	chr7:39629000-39630000	Enhancers	NHDF-Ad	bronchial
35	chr7:39629000-39630200	Enhancers	Hela-S3	cervix
36	chr7:39629000-39630200	Enhancers	Osteobl	bone
37	chr7:39629200-39629800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:39629200-39629800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:39629200-39629800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:39629200-39629800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:39629200-39629800	Enhancers	A549	lung
42	chr7:39629200-39630200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:39629200-39630200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:39629400-39629800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:39629400-39629800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr7:39629400-39630000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:39629400-39630200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:39629400-39631600	Weak transcription	NHLF	lung
49	chr7:39629400-39637000	Weak transcription	Stomach Mucosa	stomach
50	chr7:39629600-39629800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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