Variant report

Variant	nsv366364
Chromosome Location	chr7:26398445-26399294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:26398880-26399030	HVMF	connective:	n/a	n/a
2	ZNF384	chr7:26399225-26399276	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26238981..26240901-chr7:26399075..26400769,2	K562	blood:
2	chr7:26238629..26241307-chr7:26398708..26401287,3	MCF-7	breast:
3	chr7:26238707..26240572-chr7:26395874..26398533,2	K562	blood:
4	chr7:26238981..26241907-chr7:26399075..26401341,3	K562	blood:
5	chr7:26224549..26228496-chr7:26395464..26399879,4	K562	blood:

No data

Variant related genes	Relation type
SNX10	TF binding region
ENSG00000122566	chromatin interactions
ENSG00000122565	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532858766	chr7:26398469-26398470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539976317	chr7:26398470-26398471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191000547	chr7:26398491-26398492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528884153	chr7:26398514-26398515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374128776	chr7:26398543-26398544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568746611	chr7:26398571-26398572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149438009	chr7:26398591-26398592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551152593	chr7:26398606-26398607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147534919	chr7:26398617-26398618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181070278	chr7:26398673-26398674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147329381	chr7:26398678-26398679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547793554	chr7:26398710-26398711	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs73068480	chr7:26398714-26398715	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566846508	chr7:26398715-26398716	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371863152	chr7:26398735-26398736	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559456230	chr7:26398748-26398749	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs565015195	chr7:26398796-26398797	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs575494951	chr7:26398888-26398889	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs544223819	chr7:26398932-26398933	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577750610	chr7:26398947-26398948	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs530092550	chr7:26398948-26398949	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs577449369	chr7:26398958-26398959	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs73068481	chr7:26399007-26399008	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs185907529	chr7:26399011-26399012	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs369873203	chr7:26399038-26399039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs191232953	chr7:26399039-26399040	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs144081379	chr7:26399136-26399137	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374746120	chr7:26399140-26399141	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs1919935	chr7:26399235-26399236	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs537692384	chr7:26399239-26399240	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs537061600	chr7:26399288-26399289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26368800-26405000	Weak transcription	Placenta	Placenta
2	chr7:26372400-26405200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr7:26375000-26414000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:26384800-26409400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:26385600-26414200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:26386600-26405200	Weak transcription	Thymus	Thymus
7	chr7:26387400-26409400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:26387800-26409400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:26388000-26409400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:26388200-26404600	Weak transcription	Dnd41	blood
11	chr7:26388200-26405000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:26388800-26402600	Weak transcription	Liver	Liver
13	chr7:26388800-26405200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:26389000-26413200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:26389800-26402600	Weak transcription	Pancreas	Pancrea
16	chr7:26390000-26398800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:26390000-26399000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:26390200-26405000	Weak transcription	Primary T cells from cord blood	blood
19	chr7:26390600-26398800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:26390600-26399000	Weak transcription	GM12878-XiMat	blood
21	chr7:26391200-26404600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:26392000-26404600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:26392800-26398600	Weak transcription	Primary B cells from cord blood	blood
24	chr7:26393000-26399200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:26393400-26400800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:26396200-26398800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr7:26397000-26409400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:26397200-26404600	Weak transcription	Fetal Intestine Small	intestine
29	chr7:26397400-26403600	Weak transcription	Fetal Intestine Large	intestine
30	chr7:26397400-26405200	Weak transcription	Fetal Thymus	thymus
31	chr7:26397600-26399000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:26397600-26402400	Weak transcription	HepG2	liver
33	chr7:26397600-26405000	Weak transcription	Spleen	Spleen
34	chr7:26397800-26398800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:26397800-26400800	Enhancers	Primary B cells from peripheral blood	blood
36	chr7:26398600-26401200	Enhancers	Primary B cells from cord blood	blood
37	chr7:26398600-26415400	Weak transcription	HMEC	breast
38	chr7:26398800-26400000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr7:26398800-26400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:26398800-26400800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:26398800-26400800	Enhancers	Primary hematopoietic stem cells	blood
42	chr7:26399000-26399200	Enhancers	GM12878-XiMat	blood
43	chr7:26399000-26400400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr7:26399000-26400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:26399200-26399600	Weak transcription	GM12878-XiMat	blood
46	chr7:26399200-26400200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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