Variant report

Variant	esv3352967
Chromosome Location	chr7:83626144-83684599
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:83663877..83666822-chr7:83667215..83669958,2	K562	blood:
2	chr7:83662207..83663714-chr7:83668037..83670808,2	K562	blood:
3	chr7:83628560..83631062-chr7:83675861..83678781,2	MCF-7	breast:
4	chr7:83663877..83666822-chr7:83667215..83669958,2	K562	blood:
5	chr7:83662207..83663714-chr7:83668037..83670808,2	K562	blood:
6	chr7:83644236..83646821-chr7:83830858..83833552,2	K562	blood:
7	chr7:83628708..83631589-chr7:83641659..83643876,2	MCF-7	breast:
8	chr7:83628560..83631062-chr7:83675861..83678781,2	MCF-7	breast:
9	chr7:83628708..83631589-chr7:83641659..83643876,2	MCF-7	breast:

No data

Extended variants
information (count: 2290 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2290 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571196647	chr7:83626165-83626166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527274502	chr7:83626171-83626172	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143826660	chr7:83626173-83626174	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530733438	chr7:83626193-83626194	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3801591	chr7:83626243-83626244	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1623312	chr7:83626267-83626268	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528562631	chr7:83626323-83626324	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536074063	chr7:83626367-83626368	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571734558	chr7:83626429-83626430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3801592	chr7:83626435-83626436	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541602845	chr7:83626461-83626462	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557294360	chr7:83626486-83626487	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549284212	chr7:83626533-83626534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562208060	chr7:83626578-83626579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536956624	chr7:83626601-83626602	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184534495	chr7:83626634-83626635	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573725503	chr7:83626666-83626667	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368991000	chr7:83626759-83626760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541118628	chr7:83626764-83626765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148175775	chr7:83626887-83626888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144951672	chr7:83626908-83626909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570478536	chr7:83626954-83626955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376336423	chr7:83626963-83626964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569335322	chr7:83627012-83627013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577738621	chr7:83627039-83627040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116490850	chr7:83627069-83627070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78056543	chr7:83627075-83627076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1639559	chr7:83627093-83627094	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113123670	chr7:83627114-83627115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190219977	chr7:83627240-83627241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143809996	chr7:83627242-83627243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7784183	chr7:83627243-83627244	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs193255153	chr7:83627246-83627247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374564572	chr7:83627294-83627295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185163061	chr7:83627303-83627304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551114101	chr7:83627304-83627305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6971398	chr7:83627312-83627313	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536940587	chr7:83627350-83627351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577659380	chr7:83627431-83627432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11415120	chr7:83627432-83627433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77317368	chr7:83627441-83627442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529596736	chr7:83627473-83627474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111993157	chr7:83627502-83627503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534628148	chr7:83627510-83627511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2691695	chr7:83627518-83627519	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372590954	chr7:83627584-83627585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538362104	chr7:83627602-83627603	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs557119017	chr7:83627608-83627609	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs189235252	chr7:83627678-83627679	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs181206522	chr7:83627711-83627712	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83589000-83654600	Weak transcription	Fetal Stomach	stomach
2	chr7:83591000-83633800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:83591200-83634200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:83591200-83638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:83591200-83654600	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:83592600-83626400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:83606000-83654000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:83606200-83643200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:83609800-83650400	Weak transcription	NHLF	lung
10	chr7:83610200-83642200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:83610200-83673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:83612200-83626400	Weak transcription	NHDF-Ad	bronchial
13	chr7:83622800-83643200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:83623600-83634200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:83624400-83628000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:83624400-83651600	Weak transcription	Fetal Intestine Small	intestine
17	chr7:83624600-83628000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:83624600-83629000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:83625000-83626400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:83625000-83646800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:83625200-83627800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:83625400-83626200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:83625400-83627600	Weak transcription	Fetal Lung	lung
24	chr7:83625400-83638200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:83625600-83626400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:83625600-83629400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:83625600-83633800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:83625600-83643600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:83626000-83626600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr7:83626000-83650600	Weak transcription	NH-A	brain
31	chr7:83626200-83626600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:83626200-83626800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:83626200-83629600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:83626400-83627800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:83626400-83630200	Strong transcription	NHDF-Ad	bronchial
36	chr7:83626400-83631000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:83626400-83638600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:83626600-83636200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:83626800-83638800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:83627000-83631200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:83627000-83636600	Weak transcription	Adipose Nuclei	Adipose
42	chr7:83627200-83632000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:83627600-83627800	ZNF genes & repeats	Fetal Lung	lung
44	chr7:83627800-83628000	Strong transcription	Fetal Lung	lung
45	chr7:83627800-83633200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:83627800-83633800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:83628000-83629400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:83628000-83632600	Weak transcription	Fetal Lung	lung
49	chr7:83628000-83634200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:83629400-83632600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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