Variant report

Variant	nsv607720
Chromosome Location	chr7:85419011-85489693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:84659852..84660474-chr7:85458932..85459657,2	MCF-7	breast:
2	chr7:84659833..84660559-chr7:85458909..85459420,2	MCF-7	breast:
3	chr7:84670766..84671527-chr7:85480999..85481548,2	MCF-7	breast:
4	chr7:84670210..84671310-chr7:85458944..85460023,3	MCF-7	breast:
5	chr7:84659939..84660879-chr7:85480443..85481564,5	MCF-7	breast:
6	chr7:84652105..84652692-chr7:85458869..85459474,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153993	chromatin interactions

Extended variants
information (count: 1230 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1230 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539857881	chr7:85429823-85429824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34748264	chr7:85429898-85429899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533578331	chr7:85429947-85429948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545338228	chr7:85429949-85429950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111732063	chr7:85429980-85429981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138173488	chr7:85429984-85429985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576481238	chr7:85429994-85429995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149564531	chr7:85430027-85430028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114916490	chr7:85430031-85430032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10238627	chr7:85430065-85430066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180738577	chr7:85430104-85430105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546690885	chr7:85430134-85430135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59331857	chr7:85430149-85430150	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11312001	chr7:85430162-85430163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560826879	chr7:85430182-85430183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539660228	chr7:85430218-85430219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186016565	chr7:85430219-85430220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574427394	chr7:85430260-85430261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192049979	chr7:85430265-85430266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184029756	chr7:85430266-85430267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186018019	chr7:85430275-85430276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573699136	chr7:85430348-85430349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374344047	chr7:85430376-85430377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530685898	chr7:85430448-85430449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs60349848	chr7:85430494-85430495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190329536	chr7:85430575-85430576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541723198	chr7:85430583-85430584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578105334	chr7:85430632-85430633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182528355	chr7:85430678-85430679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563807982	chr7:85430698-85430699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186911744	chr7:85430708-85430709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192752899	chr7:85430753-85430754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560919283	chr7:85430756-85430757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528474310	chr7:85430758-85430759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143264016	chr7:85430767-85430768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77617723	chr7:85430772-85430773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368230987	chr7:85430817-85430818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532960711	chr7:85430824-85430825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551584029	chr7:85430855-85430856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182715783	chr7:85430879-85430880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187789857	chr7:85430891-85430892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201301942	chr7:85430999-85431000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528427948	chr7:85431012-85431013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555701592	chr7:85431024-85431025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535566557	chr7:85431093-85431094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368415906	chr7:85431159-85431160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142787140	chr7:85431184-85431185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534648294	chr7:85431204-85431205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371439696	chr7:85431219-85431220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147413840	chr7:85431271-85431272	Enhancers	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85429800-85431600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr7:85431200-85432000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:85432000-85435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:85434400-85435200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:85435200-85435800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:85445400-85446400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:85446000-85446400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:85450000-85451000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:85450200-85451200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:85450400-85451600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:85452600-85452800	Enhancers	Fetal Lung	lung
12	chr7:85452800-85453000	Enhancers	Fetal Stomach	stomach
13	chr7:85452800-85453200	Flanking Active TSS	Fetal Lung	lung
14	chr7:85453200-85454400	Enhancers	Fetal Lung	lung
15	chr7:85454400-85454800	Weak transcription	Fetal Lung	lung
16	chr7:85454800-85455000	Enhancers	Fetal Lung	lung
17	chr7:85455000-85457800	Weak transcription	Fetal Lung	lung
18	chr7:85457800-85458200	Enhancers	Fetal Muscle Leg	muscle
19	chr7:85457800-85458200	Enhancers	A549	lung
20	chr7:85457800-85458600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:85457800-85458600	Enhancers	Fetal Stomach	stomach
22	chr7:85457800-85459000	Enhancers	Fetal Lung	lung
23	chr7:85457800-85460000	Enhancers	Fetal Heart	heart
24	chr7:85458000-85458600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:85458000-85458800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:85458200-85458600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:85458200-85458600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:85458600-85459600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:85458800-85460600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:85459000-85459400	Weak transcription	Fetal Lung	lung
31	chr7:85459400-85462200	Enhancers	Fetal Lung	lung
32	chr7:85459800-85460000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:85460600-85461200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:85462000-85463200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:85462200-85463400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:85462200-85468600	Weak transcription	Fetal Lung	lung
37	chr7:85462400-85462600	Enhancers	NHDF-Ad	bronchial
38	chr7:85468600-85468800	Enhancers	Fetal Lung	lung
39	chr7:85468800-85469200	Weak transcription	Fetal Lung	lung
40	chr7:85469200-85469800	Enhancers	Fetal Lung	lung
41	chr7:85469400-85469600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr7:85469600-85469800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr7:85469800-85470200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:85469800-85470200	Flanking Active TSS	Fetal Lung	lung
45	chr7:85469800-85470400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:85469800-85470400	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr7:85469800-85470600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:85469800-85470600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr7:85470000-85470400	Active TSS	Brain Anterior Caudate	brain
50	chr7:85470200-85470400	Enhancers	Fetal Lung	lung

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