Variant report

Variant	nsv1017909
Chromosome Location	chr7:40337109-40427634
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:40348620..40350328-chr7:40353767..40356702,2	K562	blood:
2	chr7:40362786..40364533-chr7:40364996..40369227,3	K562	blood:
3	chr7:40345049..40347172-chr7:40349979..40352115,2	K562	blood:
4	chr7:40344397..40346549-chr7:40349560..40351479,2	K562	blood:
5	chr7:40362786..40364533-chr7:40364996..40369227,3	K562	blood:
6	chr7:40348620..40350328-chr7:40353767..40356702,2	K562	blood:
7	chr7:40334583..40336119-chr7:40353617..40356349,2	K562	blood:
8	chr20:57473196..57474009-chr7:40413360..40414065,2	MCF-7	breast:
9	chr7:40344397..40346549-chr7:40349560..40351479,2	K562	blood:
10	chr7:40345049..40347172-chr7:40349979..40352115,2	K562	blood:
11	chr7:40368904..40369830-chr7:40644119..40645087,4	MCF-7	breast:
12	chr7:39988445..39991258-chr7:40413776..40416750,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259826	chromatin interactions
ENSG00000065883	chromatin interactions

Extended variants
information (count: 2584 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2584 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4302752	chr7:40337109-40337110	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535625451	chr7:40337135-40337136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367988440	chr7:40337149-40337150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561836218	chr7:40337155-40337156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573835804	chr7:40337175-40337176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527810526	chr7:40337180-40337181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140618040	chr7:40337183-40337184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4469366	chr7:40337189-40337190	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372351594	chr7:40337204-40337205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569189775	chr7:40337211-40337212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541023446	chr7:40337301-40337302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557427526	chr7:40337380-40337381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117309842	chr7:40337385-40337386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150829978	chr7:40337388-40337389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562818817	chr7:40337446-40337447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374812997	chr7:40337536-40337537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543909177	chr7:40337537-40337538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116622098	chr7:40337567-40337568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555556622	chr7:40337569-40337570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527740362	chr7:40337583-40337584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527625857	chr7:40337590-40337591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562465590	chr7:40337608-40337609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369742931	chr7:40337624-40337625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533360168	chr7:40337634-40337635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113203940	chr7:40337792-40337793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374167718	chr7:40337801-40337802	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533087932	chr7:40337852-40337853	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs78262595	chr7:40337891-40337892	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185964622	chr7:40337961-40337962	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs555553137	chr7:40338022-40338023	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs189821209	chr7:40338034-40338035	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs560255976	chr7:40338045-40338046	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs534458507	chr7:40338064-40338065	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs557829752	chr7:40338095-40338096	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs577592093	chr7:40338134-40338135	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs4723943	chr7:40338146-40338147	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs117100067	chr7:40338164-40338165	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs576298453	chr7:40338171-40338172	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs10280684	chr7:40338290-40338291	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs542024734	chr7:40338299-40338300	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs572413470	chr7:40338335-40338336	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs34021065	chr7:40338364-40338365	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs11773447	chr7:40338371-40338372	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs79814239	chr7:40338385-40338386	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs572592014	chr7:40338413-40338414	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs369815161	chr7:40338539-40338540	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs17171675	chr7:40338547-40338548	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533400498	chr7:40338551-40338552	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs6962341	chr7:40338553-40338554	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs77591806	chr7:40338639-40338640	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Autism	22495311	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
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40317400-40344600	Weak transcription	Aorta	Aorta
2	chr7:40332400-40337600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:40332600-40337400	Weak transcription	Dnd41	blood
4	chr7:40335400-40339200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:40335600-40337800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:40335800-40341400	Enhancers	HUVEC	blood vessel
7	chr7:40336000-40339200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:40336000-40340200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:40336200-40340600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:40336600-40339000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:40336800-40338600	Enhancers	Osteobl	bone
12	chr7:40336800-40339200	Enhancers	HSMMtube	muscle
13	chr7:40336800-40342000	Enhancers	NH-A	brain
14	chr7:40336800-40342600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:40337000-40337800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:40337000-40339200	Enhancers	NHEK	skin
17	chr7:40337000-40341400	Enhancers	HMEC	breast
18	chr7:40337000-40341800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:40337000-40342600	Enhancers	HSMM	muscle
20	chr7:40337200-40337800	Enhancers	NHLF	lung
21	chr7:40337200-40338000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:40337200-40339400	Enhancers	NHDF-Ad	bronchial
23	chr7:40337400-40341400	Enhancers	Dnd41	blood
24	chr7:40337600-40338800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:40337600-40339000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:40337600-40339200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:40337600-40339200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:40337600-40339200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr7:40337600-40339400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:40337800-40338200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:40337800-40338600	Weak transcription	NHLF	lung
32	chr7:40337800-40338800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr7:40337800-40341000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:40338000-40339200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:40338200-40339000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:40338200-40339000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:40338400-40339200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:40338600-40338800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:40338600-40338800	Enhancers	NHLF	lung
40	chr7:40338600-40338800	Flanking Active TSS	Osteobl	bone
41	chr7:40338600-40339000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:40338600-40339200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:40338800-40339000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:40338800-40339000	Weak transcription	NHLF	lung
45	chr7:40338800-40339000	Enhancers	Osteobl	bone
46	chr7:40338800-40339200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr7:40338800-40339200	Enhancers	Primary T cells from cord blood	blood
48	chr7:40339000-40339200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr7:40339000-40339200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:40339000-40339200	Flanking Active TSS	Osteobl	bone

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