Variant report

Variant	nsv607684
Chromosome Location	chr7:80286344-80289439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80057613..80058392-chr7:80288390..80289288,3	MCF-7	breast:
2	chr7:80057471..80058066-chr7:80288234..80289022,3	MCF-7	breast:
3	chr7:80288156..80289657-chr7:80291382..80293831,2	K562	blood:

Variant related genes	Relation type
ENSG00000229436	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3211864	chr7:80286344-80286345	Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536998473	chr7:80286382-80286383	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556093276	chr7:80286418-80286419	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372767585	chr7:80286420-80286421	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150122256	chr7:80286443-80286444	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538724460	chr7:80286555-80286556	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559033258	chr7:80286572-80286573	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572475505	chr7:80286590-80286591	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3211865	chr7:80286605-80286606	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3211866	chr7:80286623-80286624	Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs555248793	chr7:80286695-80286696	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182710250	chr7:80286753-80286754	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201130407	chr7:80286775-80286776	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138429524	chr7:80286785-80286786	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563238191	chr7:80286806-80286807	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532152915	chr7:80286900-80286901	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11574703	chr7:80286908-80286909	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	disease
18	rs186932836	chr7:80286918-80286919	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563261577	chr7:80286919-80286920	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3211867	chr7:80286940-80286941	Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs370025280	chr7:80286966-80286967	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369290031	chr7:80286970-80286971	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533317143	chr7:80286971-80286972	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566283879	chr7:80286986-80286987	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3211868	chr7:80287022-80287023	Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567919732	chr7:80287052-80287053	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530678440	chr7:80287053-80287054	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372683990	chr7:80287098-80287099	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550479086	chr7:80287100-80287101	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192974749	chr7:80287108-80287109	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539001859	chr7:80287117-80287118	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558721422	chr7:80287125-80287126	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3211869	chr7:80287152-80287153	Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs535125283	chr7:80287173-80287174	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3211870	chr7:80287209-80287210	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs575100608	chr7:80287241-80287242	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537709531	chr7:80287269-80287270	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185161993	chr7:80287312-80287313	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3211871	chr7:80287358-80287359	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545777529	chr7:80287366-80287367	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556298037	chr7:80287370-80287371	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559133793	chr7:80287387-80287388	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73134029	chr7:80287406-80287407	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11574709	chr7:80287411-80287412	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs138132415	chr7:80287425-80287426	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530640441	chr7:80287426-80287427	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550389023	chr7:80287532-80287533	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564389945	chr7:80287543-80287544	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549857556	chr7:80287582-80287583	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71519000	chr7:80287592-80287593	Genic enhancers Weak transcription	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
Williams Syndrome	20824207	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
Breast cancer	21611746	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80269400-80305000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:80272600-80293600	Weak transcription	Placenta	Placenta
3	chr7:80275800-80288400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:80276200-80286400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:80278600-80288200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:80279000-80306600	Weak transcription	Fetal Intestine Small	intestine
7	chr7:80279800-80303400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:80281200-80287200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:80282200-80291800	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:80282800-80291000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:80283200-80292600	Genic enhancers	Adipose Nuclei	Adipose
12	chr7:80284600-80288200	Weak transcription	Fetal Heart	heart
13	chr7:80284600-80288400	Weak transcription	Fetal Lung	lung
14	chr7:80284600-80291600	Weak transcription	Spleen	Spleen
15	chr7:80284600-80309800	Weak transcription	Psoas Muscle	Psoas
16	chr7:80285000-80287800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:80285000-80288400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:80285200-80287600	Weak transcription	Right Atrium	heart
19	chr7:80285200-80291200	Weak transcription	Left Ventricle	heart
20	chr7:80285400-80288800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:80285600-80288800	Genic enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:80285800-80287200	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:80285800-80291600	Weak transcription	Right Ventricle	heart
24	chr7:80285800-80308200	Weak transcription	Liver	Liver
25	chr7:80286400-80286600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:80286400-80289000	Genic enhancers	Monocytes-CD14+_RO01746	blood
27	chr7:80287200-80287400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:80287200-80290200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:80287400-80287800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:80287800-80288800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:80287800-80288800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr7:80288000-80288200	Enhancers	Right Atrium	heart
33	chr7:80288200-80288600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr7:80288200-80288800	Enhancers	Fetal Heart	heart
35	chr7:80288200-80288800	Enhancers	NHDF-Ad	bronchial
36	chr7:80288200-80288800	Enhancers	NHLF	lung
37	chr7:80288200-80289000	Enhancers	HSMMtube	muscle
38	chr7:80288400-80288800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:80288400-80288800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:80288400-80289000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:80288400-80289000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:80288400-80289000	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr7:80288400-80289000	Enhancers	Fetal Lung	lung
44	chr7:80288400-80289000	Enhancers	Hela-S3	cervix
45	chr7:80288600-80288800	Enhancers	HSMM	muscle
46	chr7:80288600-80289000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:80288600-80289000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:80288600-80289000	Enhancers	Osteobl	bone
49	chr7:80288600-80290000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:80288600-80306800	Weak transcription	Lung	lung

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