Variant report

Variant	esv1819223
Chromosome Location	chr7:26250940-26252966
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26249037..26251510-chr7:26254013..26255704,2	MCF-7	breast:
2	chr7:26249177..26251255-chr7:26264023..26266193,2	MCF-7	breast:
3	chr7:26251555..26253253-chr7:26253823..26256718,2	MCF-7	breast:
4	chr7:26250234..26251856-chr7:26291187..26293683,2	K562	blood:
5	chr7:26248545..26251073-chr7:26252692..26255530,3	MCF-7	breast:
6	chr7:26248545..26251073-chr7:26252692..26255530,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NFE2L3-4	chr7:26252176-26252971	NONHSAT119623

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	CBX3	hsa-miR-186-5p	chr7:26252800-26252806
2	CBX3	hsa-miR-186-5p	chr7:26251826-26251847
3	CBX3	hsa-miR-186-5p	chr7:26251829-26251847
4	CBX3	hsa-miR-186-5p	chr7:26251755-26251777

Extended variants
information (count: 104 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11972057	chr7:26250940-26250941	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557154908	chr7:26250965-26250966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11972060	chr7:26250977-26250978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143224601	chr7:26251026-26251027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538193195	chr7:26251038-26251039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146854300	chr7:26251041-26251042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73281563	chr7:26251062-26251063	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139661119	chr7:26251089-26251090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553912628	chr7:26251096-26251097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573890030	chr7:26251103-26251104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536158771	chr7:26251110-26251111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368241610	chr7:26251137-26251138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556012006	chr7:26251162-26251163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575635789	chr7:26251197-26251198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372000704	chr7:26251223-26251224	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564871677	chr7:26251224-26251225	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376571594	chr7:26251232-26251233	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201575603	chr7:26251238-26251239	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368584614	chr7:26251240-26251241	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540502792	chr7:26251244-26251245	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530652812	chr7:26251246-26251247	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376630956	chr7:26251305-26251306	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200410047	chr7:26251338-26251339	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200791010	chr7:26251368-26251369	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372921828	chr7:26251383-26251384	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374663838	chr7:26251398-26251399	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368955032	chr7:26251423-26251424	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543343409	chr7:26251429-26251430	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79501180	chr7:26251493-26251494	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150070836	chr7:26251499-26251500	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539345515	chr7:26251534-26251535	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551798317	chr7:26251567-26251568	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571680493	chr7:26251587-26251588	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187435406	chr7:26251590-26251591	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547542587	chr7:26251600-26251601	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369884481	chr7:26251673-26251674	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535995523	chr7:26251697-26251698	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556050161	chr7:26251735-26251736	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372760990	chr7:26251748-26251749	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372183110	chr7:26251750-26251751	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151101852	chr7:26251778-26251779	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34210465	chr7:26251811-26251812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9768418	chr7:26251843-26251844	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
44	rs569606982	chr7:26251854-26251855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191976883	chr7:26251860-26251861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558509108	chr7:26251867-26251868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145395285	chr7:26251871-26251872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541141900	chr7:26251900-26251901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554318585	chr7:26251903-26251904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574290972	chr7:26251914-26251915	Weak transcription Strong transcription	n/a	n/a	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:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26242800-26254000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:26244400-26251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:26244400-26271400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:26244800-26254200	Strong transcription	Fetal Muscle Trunk	muscle
5	chr7:26245200-26252800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:26245400-26252200	Strong transcription	Fetal Lung	lung
7	chr7:26245400-26252800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr7:26245400-26252800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr7:26245400-26252800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:26245400-26252800	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr7:26245400-26253000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:26245400-26253000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:26245400-26253200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:26245400-26253200	Strong transcription	HSMM	muscle
15	chr7:26245400-26253600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:26245600-26251800	Strong transcription	Fetal Muscle Leg	muscle
17	chr7:26245600-26251800	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:26245600-26253000	Strong transcription	Fetal Intestine Large	intestine
19	chr7:26245600-26253200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:26245600-26253600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:26245600-26253600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:26245600-26253600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:26245600-26253800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:26245800-26252600	Strong transcription	HMEC	breast
25	chr7:26245800-26252800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr7:26245800-26252800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:26245800-26252800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:26245800-26252800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:26245800-26252800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:26245800-26253000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:26245800-26253000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:26245800-26253000	Strong transcription	Placenta	Placenta
33	chr7:26245800-26253200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr7:26245800-26253200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr7:26245800-26253200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr7:26245800-26254200	Strong transcription	Fetal Thymus	thymus
37	chr7:26245800-26257400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:26245800-26263400	Weak transcription	Fetal Brain Male	brain
39	chr7:26246000-26251600	Strong transcription	NHEK	skin
40	chr7:26246000-26251800	Strong transcription	Left Ventricle	heart
41	chr7:26246000-26252400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:26246000-26252800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr7:26246000-26252800	Strong transcription	HSMMtube	muscle
44	chr7:26246000-26253000	Strong transcription	Adipose Nuclei	Adipose
45	chr7:26246000-26253000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr7:26246000-26253200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:26246000-26253200	Strong transcription	Osteobl	bone
48	chr7:26246000-26253400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:26246000-26253600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:26246000-26253600	Strong transcription	Liver	Liver

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