Variant report

Variant	esv3433955
Chromosome Location	chr7:26248005-26251808
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:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:26250234..26251856-chr7:26291187..26293683,2	K562	blood:
2	chr7:26248545..26251073-chr7:26252692..26255530,3	MCF-7	breast:
3	chr7:26249037..26251510-chr7:26254013..26255704,2	MCF-7	breast:
4	chr7:26251555..26253253-chr7:26253823..26256718,2	MCF-7	breast:
5	chr7:26245433..26248011-chr7:26331906..26333789,2	K562	blood:
6	chr7:26249177..26251255-chr7:26264023..26266193,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CBX3	hsa-miR-186-5p	chr7:26251755-26251777

Variant related genes	Relation type
ENSG00000086300	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576833016	chr7:26248037-26248038	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199646600	chr7:26248062-26248063	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11554895	chr7:26248098-26248099	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148438009	chr7:26248106-26248107	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142550836	chr7:26248139-26248140	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372035189	chr7:26248148-26248149	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559840314	chr7:26248174-26248175	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191357884	chr7:26248190-26248191	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377228409	chr7:26248221-26248222	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574759608	chr7:26248251-26248252	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181370157	chr7:26248328-26248329	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554283231	chr7:26248332-26248333	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368394999	chr7:26248343-26248344	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186759051	chr7:26248383-26248384	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550917113	chr7:26248393-26248394	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145972943	chr7:26248397-26248398	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532997721	chr7:26248401-26248402	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564423990	chr7:26248405-26248406	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373808441	chr7:26248472-26248473	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546274708	chr7:26248489-26248490	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557142158	chr7:26248498-26248499	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140984610	chr7:26248538-26248539	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59657982	chr7:26248558-26248559	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs70943278	chr7:26248570-26248571	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13244784	chr7:26248593-26248594	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566588604	chr7:26248640-26248641	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558206850	chr7:26248644-26248645	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578056443	chr7:26248645-26248646	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10279561	chr7:26248652-26248653	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549026572	chr7:26248653-26248654	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375917183	chr7:26248686-26248687	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10279648	chr7:26248711-26248712	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10279653	chr7:26248713-26248714	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10279668	chr7:26248737-26248738	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543596326	chr7:26248763-26248764	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112074869	chr7:26248774-26248775	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368669851	chr7:26248787-26248788	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10279687	chr7:26248788-26248789	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537198518	chr7:26248820-26248821	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557244253	chr7:26248828-26248829	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570803331	chr7:26248829-26248830	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373278198	chr7:26248830-26248831	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573936938	chr7:26248837-26248838	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10279800	chr7:26248858-26248859	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539497722	chr7:26248914-26248915	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7793815	chr7:26248965-26248966	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs573322129	chr7:26248974-26248975	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559358878	chr7:26249012-26249013	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555802564	chr7:26249041-26249042	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7793849	chr7:26249062-26249063	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26242400-26249400	Weak transcription	Stomach Mucosa	stomach
2	chr7:26242600-26249200	Weak transcription	Gastric	stomach
3	chr7:26242600-26249400	Weak transcription	Esophagus	oesophagus
4	chr7:26242800-26254000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:26243600-26249400	Weak transcription	Aorta	Aorta
6	chr7:26244200-26250000	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:26244400-26248800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:26244400-26249200	Weak transcription	Brain Substantia Nigra	brain
9	chr7:26244400-26251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:26244400-26271400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:26244800-26254200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr7:26245000-26248800	Weak transcription	Brain Anterior Caudate	brain
13	chr7:26245200-26252800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:26245400-26250600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:26245400-26250800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:26245400-26252200	Strong transcription	Fetal Lung	lung
17	chr7:26245400-26252800	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr7:26245400-26252800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr7:26245400-26252800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:26245400-26252800	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr7:26245400-26253000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:26245400-26253000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:26245400-26253200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:26245400-26253200	Strong transcription	HSMM	muscle
25	chr7:26245400-26253600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:26245600-26250200	Strong transcription	Colonic Mucosa	Colon
27	chr7:26245600-26251800	Strong transcription	Fetal Muscle Leg	muscle
28	chr7:26245600-26251800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:26245600-26253000	Strong transcription	Fetal Intestine Large	intestine
30	chr7:26245600-26253200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:26245600-26253600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:26245600-26253600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:26245600-26253600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:26245600-26253800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:26245800-26250200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:26245800-26252600	Strong transcription	HMEC	breast
37	chr7:26245800-26252800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr7:26245800-26252800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:26245800-26252800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:26245800-26252800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:26245800-26252800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:26245800-26253000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:26245800-26253000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:26245800-26253000	Strong transcription	Placenta	Placenta
45	chr7:26245800-26253200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr7:26245800-26253200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr7:26245800-26253200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr7:26245800-26254200	Strong transcription	Fetal Thymus	thymus
49	chr7:26245800-26257400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:26245800-26263400	Weak transcription	Fetal Brain Male	brain

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