Variant report

Variant	nsv888628
Chromosome Location	chr7:83659577-83722691
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:83719585..83722365-chr7:83758101..83759838,2	K562	blood:
2	chr7:83663877..83666822-chr7:83667215..83669958,2	K562	blood:
3	chr7:83702133..83704652-chr7:83714505..83716977,2	K562	blood:
4	chr7:83662207..83663714-chr7:83668037..83670808,2	K562	blood:
5	chr7:83663877..83666822-chr7:83667215..83669958,2	K562	blood:
6	chr7:83628560..83631062-chr7:83675861..83678781,2	MCF-7	breast:
7	chr7:83662207..83663714-chr7:83668037..83670808,2	K562	blood:
8	chr7:83702133..83704652-chr7:83714505..83716977,2	K562	blood:

No data

Extended variants
information (count: 2602 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2602 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17158529	chr7:83659577-83659578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536982385	chr7:83659583-83659584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549231334	chr7:83659631-83659632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76185749	chr7:83659700-83659701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149560905	chr7:83659711-83659712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144239949	chr7:83659788-83659789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542754423	chr7:83659819-83659820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10672930	chr7:83659842-83659843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34932610	chr7:83659843-83659844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386410615	chr7:83659846-83659847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10665064	chr7:83659847-83659848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376733272	chr7:83659864-83659865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553392452	chr7:83659929-83659930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181223821	chr7:83659943-83659944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150306123	chr7:83659972-83659973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186206703	chr7:83659982-83659983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369200805	chr7:83659985-83659986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557632119	chr7:83659993-83659994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544606414	chr7:83660014-83660015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575995639	chr7:83660023-83660024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543373303	chr7:83660032-83660033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561447749	chr7:83660038-83660039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528838530	chr7:83660084-83660085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543979223	chr7:83660128-83660129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540671251	chr7:83660131-83660132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148731864	chr7:83660172-83660173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557318699	chr7:83660177-83660178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191451037	chr7:83660181-83660182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182345978	chr7:83660194-83660195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530638451	chr7:83660228-83660229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549223515	chr7:83660257-83660258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567460137	chr7:83660293-83660294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564509480	chr7:83660304-83660305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10615974	chr7:83660324-83660325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577343140	chr7:83660349-83660350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546184271	chr7:83660395-83660396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6949547	chr7:83660402-83660403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113047098	chr7:83660408-83660409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528327924	chr7:83660456-83660457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377101381	chr7:83660465-83660466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs68158025	chr7:83660471-83660472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539172408	chr7:83660474-83660475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557569053	chr7:83660484-83660485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186962448	chr7:83660524-83660525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6967045	chr7:83660529-83660530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147815134	chr7:83660531-83660532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555195348	chr7:83660568-83660569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573502017	chr7:83660597-83660598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139649071	chr7:83660605-83660606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374543131	chr7:83660614-83660615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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	21293372	CNVD

Chromatin state (count:738 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83610200-83673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:83652200-83680200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:83652400-83671400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:83655400-83669800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:83655400-83671400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:83655400-83671600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:83655600-83661400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:83655600-83663000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:83655600-83666400	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:83655600-83669600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:83655600-83671000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:83655600-83671000	Weak transcription	A549	lung
13	chr7:83655600-83673200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:83656000-83667200	Weak transcription	NHDF-Ad	bronchial
15	chr7:83656200-83661200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:83659200-83660000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:83659400-83660200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:83661200-83661800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:83661800-83669600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:83662400-83663200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:83663400-83663600	ZNF genes & repeats	Pancreas	Pancrea
22	chr7:83663600-83668800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:83666400-83666600	Enhancers	Colon Smooth Muscle	Colon
24	chr7:83666600-83672800	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:83667000-83671200	Weak transcription	NHLF	lung
26	chr7:83667200-83667600	Enhancers	Fetal Lung	lung
27	chr7:83667200-83670200	Strong transcription	NHDF-Ad	bronchial
28	chr7:83667600-83672800	Weak transcription	Fetal Lung	lung
29	chr7:83667800-83668000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr7:83668000-83672800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:83668400-83669800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:83668400-83674200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:83668400-83676000	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:83668800-83672000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:83669200-83671800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr7:83669400-83670000	Enhancers	Stomach Mucosa	stomach
37	chr7:83669400-83670800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:83669400-83674800	Enhancers	HepG2	liver
39	chr7:83669600-83669800	Enhancers	Brain Germinal Matrix	brain
40	chr7:83669600-83670000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:83669600-83670000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:83669600-83670000	Enhancers	Brain Cingulate Gyrus	brain
43	chr7:83669600-83670200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:83669600-83670200	Enhancers	Brain Anterior Caudate	brain
45	chr7:83669600-83670200	Enhancers	Brain Substantia Nigra	brain
46	chr7:83669600-83670600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:83669600-83671000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:83669600-83672000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:83669800-83670000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr7:83669800-83670000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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