Variant report

Variant	nsv523844
Chromosome Location	chr7:84328077-84334498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:84325930..84329136-chr7:84329688..84332999,3	K562	blood:
2	chr7:84325930..84329136-chr7:84329688..84332999,3	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4329228	chr7:84328077-84328078	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116271981	chr7:84328125-84328126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577370311	chr7:84328187-84328188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544813039	chr7:84328225-84328226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563182861	chr7:84328247-84328248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545680923	chr7:84328293-84328294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565485571	chr7:84328359-84328360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542739718	chr7:84328367-84328368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186302485	chr7:84328435-84328436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528499294	chr7:84328440-84328441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546947468	chr7:84328487-84328488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76866203	chr7:84328503-84328504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532899393	chr7:84328539-84328540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551195818	chr7:84328585-84328586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377629643	chr7:84328621-84328622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537130312	chr7:84328660-84328661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116767914	chr7:84328669-84328670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10257091	chr7:84328681-84328682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534614500	chr7:84328685-84328686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527835558	chr7:84328686-84328687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552952111	chr7:84328721-84328722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182564981	chr7:84328728-84328729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114833911	chr7:84328776-84328777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35894368	chr7:84328789-84328790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184894098	chr7:84328844-84328845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151231938	chr7:84328845-84328846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542718357	chr7:84328888-84328889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561453235	chr7:84328893-84328894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528425218	chr7:84328902-84328903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560682076	chr7:84328988-84328989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189750485	chr7:84329065-84329066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140088209	chr7:84329083-84329084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11975866	chr7:84329104-84329105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532835637	chr7:84329144-84329145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551332642	chr7:84329171-84329172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183114305	chr7:84329200-84329201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78415736	chr7:84329236-84329237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548759025	chr7:84329248-84329249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80296084	chr7:84329269-84329270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150297877	chr7:84329282-84329283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546571742	chr7:84329291-84329292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570939091	chr7:84329318-84329319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538528591	chr7:84329324-84329325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187838733	chr7:84329379-84329380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530073421	chr7:84329411-84329412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57588521	chr7:84329448-84329449	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532017140	chr7:84329484-84329485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs137970515	chr7:84329501-84329502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74488596	chr7:84329574-84329575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540402541	chr7:84329596-84329597	Weak transcription Enhancers	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
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84321000-84331400	Weak transcription	Aorta	Aorta
2	chr7:84326000-84329200	Enhancers	Osteobl	bone
3	chr7:84326000-84330400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:84326600-84330800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:84327200-84329000	Weak transcription	A549	lung
6	chr7:84327200-84330600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:84327400-84328600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:84327400-84328800	Weak transcription	HUVEC	blood vessel
9	chr7:84327400-84331200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:84327600-84328400	Weak transcription	NH-A	brain
11	chr7:84327800-84328800	Weak transcription	Hela-S3	cervix
12	chr7:84327800-84329000	Weak transcription	NHDF-Ad	bronchial
13	chr7:84328000-84329000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:84328400-84329200	Enhancers	NH-A	brain
15	chr7:84328600-84331600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:84328800-84329000	Enhancers	HUVEC	blood vessel
17	chr7:84328800-84330600	Enhancers	Hela-S3	cervix
18	chr7:84329000-84329200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:84329000-84329200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:84329000-84329200	Enhancers	HSMM	muscle
21	chr7:84329000-84329400	Weak transcription	HUVEC	blood vessel
22	chr7:84329000-84330600	Enhancers	A549	lung
23	chr7:84329000-84331800	Enhancers	NHDF-Ad	bronchial
24	chr7:84329200-84329600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:84329200-84330000	Weak transcription	NH-A	brain
26	chr7:84329200-84330000	Weak transcription	Osteobl	bone
27	chr7:84329200-84330200	Weak transcription	HSMM	muscle
28	chr7:84329200-84333800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:84329400-84330600	Enhancers	HUVEC	blood vessel
30	chr7:84329600-84331000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:84330000-84330800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr7:84330000-84330800	Enhancers	NH-A	brain
33	chr7:84330000-84331000	Enhancers	NHLF	lung
34	chr7:84330000-84331200	Enhancers	Osteobl	bone
35	chr7:84330200-84331800	Enhancers	HSMM	muscle
36	chr7:84330400-84331800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr7:84330600-84331000	Flanking Active TSS	A549	lung
38	chr7:84330600-84331000	Flanking Active TSS	Hela-S3	cervix
39	chr7:84330600-84331600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:84330600-84331600	Flanking Active TSS	HUVEC	blood vessel
41	chr7:84330600-84331800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:84330800-84331000	Flanking Active TSS	NH-A	brain
43	chr7:84330800-84331400	Enhancers	Rectal Smooth Muscle	rectum
44	chr7:84330800-84331600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:84330800-84331600	Enhancers	Fetal Intestine Large	intestine
46	chr7:84330800-84331800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:84331000-84331400	Active TSS	A549	lung
48	chr7:84331000-84331400	Active TSS	NH-A	brain
49	chr7:84331000-84331800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:84331000-84332400	Enhancers	Hela-S3	cervix

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