Variant report

Variant	nsv1031292
Chromosome Location	chr7:85174239-85219583
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:7024083..7024583-chr7:85192420..85193063,2	MCF-7	breast:
2	chr7:84659480..84660360-chr7:85183314..85184162,2	MCF-7	breast:
3	chr7:85183273..85184394-chr7:85379037..85380205,4	MCF-7	breast:
4	chr7:84670622..84671190-chr7:85183449..85184130,2	MCF-7	breast:
5	chr7:84671065..84671572-chr7:85183760..85184324,2	MCF-7	breast:
6	chr7:85153959..85156643-chr7:85186340..85188558,2	K562	blood:

Variant related genes	Relation type
ENSG00000111674	chromatin interactions
ENSG00000153993	chromatin interactions

Extended variants
information (count: 1242 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1242 , 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	rs192842442	chr7:85176422-85176423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71524647	chr7:85176537-85176538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs398047817	chr7:85176538-85176539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545715613	chr7:85176546-85176547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564014957	chr7:85176565-85176566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530915635	chr7:85176614-85176615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543072380	chr7:85176656-85176657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182656003	chr7:85176685-85176686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187690318	chr7:85176698-85176699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547235995	chr7:85176740-85176741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565863290	chr7:85176755-85176756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376099406	chr7:85176756-85176757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193104257	chr7:85176763-85176764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369436120	chr7:85176770-85176771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184833439	chr7:85176800-85176801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34233073	chr7:85176844-85176845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28567503	chr7:85176901-85176902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs371018878	chr7:85176915-85176916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531759157	chr7:85176977-85176978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187743106	chr7:85177035-85177036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192204799	chr7:85177041-85177042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567207343	chr7:85177067-85177068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534716610	chr7:85177084-85177085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149474773	chr7:85177089-85177090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374765782	chr7:85177104-85177105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115919646	chr7:85177138-85177139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557665187	chr7:85177166-85177167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17160046	chr7:85177180-85177181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542622283	chr7:85177208-85177209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561344902	chr7:85177219-85177220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143970426	chr7:85177244-85177245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184286839	chr7:85177262-85177263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189652579	chr7:85177265-85177266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148553974	chr7:85177274-85177275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551180967	chr7:85177278-85177279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569577868	chr7:85177286-85177287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530721513	chr7:85177321-85177322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1830334	chr7:85177326-85177327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567252036	chr7:85177338-85177339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373337577	chr7:85177339-85177340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372997004	chr7:85177371-85177372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1830333	chr7:85177375-85177376	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs539207291	chr7:85177382-85177383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181190932	chr7:85177493-85177494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141970139	chr7:85177593-85177594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371793318	chr7:85178210-85178211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546047099	chr7:85178217-85178218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146776955	chr7:85178243-85178244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534159849	chr7:85178251-85178252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189298126	chr7:85178263-85178264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85176400-85177000	Enhancers	Rectal Smooth Muscle	rectum
2	chr7:85176400-85177600	Enhancers	Colon Smooth Muscle	Colon
3	chr7:85178200-85180400	Weak transcription	Fetal Lung	lung
4	chr7:85180400-85180600	ZNF genes & repeats	Fetal Lung	lung
5	chr7:85180600-85182400	Weak transcription	Fetal Lung	lung
6	chr7:85182400-85184600	Enhancers	Fetal Lung	lung
7	chr7:85183400-85183800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:85183400-85183800	Enhancers	Fetal Heart	heart
9	chr7:85183400-85184600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:85183600-85183800	Enhancers	A549	lung
11	chr7:85183800-85184200	Flanking Active TSS	A549	lung
12	chr7:85184200-85184400	Enhancers	A549	lung
13	chr7:85184600-85193400	Weak transcription	Fetal Lung	lung
14	chr7:85193200-85193400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:85193400-85194000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr7:85193400-85194400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:85193400-85195800	Enhancers	Fetal Lung	lung
18	chr7:85194200-85195000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:85194200-85196000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:85194400-85194800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:85194800-85196800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:85195800-85199600	Weak transcription	Fetal Lung	lung
23	chr7:85196800-85198200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:85198400-85198600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:85199600-85201000	Enhancers	Fetal Lung	lung
26	chr7:85201200-85201800	Enhancers	Fetal Kidney	kidney
27	chr7:85202800-85203200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:85202800-85204000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr7:85207600-85208600	Enhancers	Fetal Lung	lung
30	chr7:85208600-85208800	Active TSS	Fetal Lung	lung
31	chr7:85211200-85213000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr7:85212600-85213000	Enhancers	Fetal Heart	heart
33	chr7:85215600-85218000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:85216600-85217200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:85217000-85217400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:85218000-85218200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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