Variant report

Variant	nsv522585
Chromosome Location	chr7:47764737-47777685
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:47773818..47776003-chr7:47781051..47783557,2	MCF-7	breast:
2	chr7:47758562..47761407-chr7:47764047..47766786,2	MCF-7	breast:
3	chr7:47619271..47621011-chr7:47774897..47776657,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf69-3	chr7:47767599-47767636	ucscGeneNc_uc003tnx_2
2	lnc-C7orf69-3	chr7:47771952-47772894	ucscGeneNc_uc003tnx_2
3	lnc-C7orf69-3	chr7:47769496-47769701	ucscGeneNc_uc003tnx_2

No data

Extended variants
information (count: 575 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6959690	chr7:47764737-47764738	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188913588	chr7:47764742-47764743	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs556951749	chr7:47764756-47764757	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs6977529	chr7:47764757-47764758	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs62447737	chr7:47764801-47764802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192528743	chr7:47764818-47764819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555644891	chr7:47764838-47764839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149002776	chr7:47764842-47764843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143677739	chr7:47764875-47764876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528418689	chr7:47764877-47764878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558033601	chr7:47764887-47764888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548426644	chr7:47764911-47764912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145741860	chr7:47764944-47764945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112829365	chr7:47764990-47764991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148086027	chr7:47764995-47764996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141169526	chr7:47765037-47765038	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs578023415	chr7:47765053-47765054	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs545004506	chr7:47765082-47765083	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112444467	chr7:47765083-47765084	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs145059873	chr7:47765104-47765105	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs530051721	chr7:47765122-47765123	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs138848807	chr7:47765199-47765200	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs141771586	chr7:47765205-47765206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150766470	chr7:47765214-47765215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138107163	chr7:47765230-47765231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548658398	chr7:47765252-47765253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574361579	chr7:47765258-47765259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543046226	chr7:47765259-47765260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76906532	chr7:47765261-47765262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189238144	chr7:47765269-47765270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149534838	chr7:47765344-47765345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13233402	chr7:47765371-47765372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74686010	chr7:47765421-47765422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144091282	chr7:47765444-47765445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180840515	chr7:47765471-47765472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140304303	chr7:47765478-47765479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144163425	chr7:47765537-47765538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551023620	chr7:47765542-47765543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570857104	chr7:47765592-47765593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186483720	chr7:47765625-47765626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74829788	chr7:47765628-47765629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147383801	chr7:47765634-47765635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536013757	chr7:47765641-47765642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555662596	chr7:47765661-47765662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139534756	chr7:47765675-47765676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142421839	chr7:47765680-47765681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556577289	chr7:47765749-47765750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368424004	chr7:47765816-47765817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188545383	chr7:47765833-47765834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545498793	chr7:47765834-47765835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47759600-47767000	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:47760800-47764800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:47761000-47765000	Weak transcription	GM12878-XiMat	blood
4	chr7:47762600-47765200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr7:47763000-47766200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:47763400-47766000	Enhancers	Primary B cells from cord blood	blood
7	chr7:47763600-47765000	Enhancers	Fetal Muscle Trunk	muscle
8	chr7:47763600-47765400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:47763600-47765400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:47763800-47764800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:47763800-47765000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:47763800-47765000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:47763800-47765000	Enhancers	Fetal Muscle Leg	muscle
14	chr7:47763800-47765000	Enhancers	Placenta	Placenta
15	chr7:47763800-47765000	Enhancers	HSMMtube	muscle
16	chr7:47763800-47765200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:47763800-47765200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:47763800-47765200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:47763800-47765200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:47763800-47765200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:47763800-47765200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:47763800-47765200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:47763800-47765200	Enhancers	NHLF	lung
24	chr7:47763800-47765400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:47763800-47765400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:47763800-47765400	Enhancers	Hela-S3	cervix
27	chr7:47763800-47765600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:47763800-47765800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:47763800-47765800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:47763800-47766000	Enhancers	Spleen	Spleen
31	chr7:47763800-47766600	Enhancers	HepG2	liver
32	chr7:47763800-47767000	Enhancers	Fetal Kidney	kidney
33	chr7:47764000-47764800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:47764000-47765000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:47764000-47765000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr7:47764000-47765000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:47764000-47765000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:47764000-47765200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:47764000-47765200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:47764000-47765200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:47764000-47765200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:47764000-47765200	Enhancers	HMEC	breast
43	chr7:47764000-47765200	Enhancers	HSMM	muscle
44	chr7:47764000-47765400	Enhancers	HUVEC	blood vessel
45	chr7:47764000-47765600	Enhancers	Stomach Mucosa	stomach
46	chr7:47764000-47766000	Enhancers	Fetal Stomach	stomach
47	chr7:47764000-47766800	Enhancers	Fetal Intestine Large	intestine
48	chr7:47764000-47766800	Enhancers	A549	lung
49	chr7:47764200-47764800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:47764200-47764800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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