Variant report

Variant	nsv970838
Chromosome Location	chr7:56082961-56085012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4255091	chr7:56082992-56082993	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs80021822	chr7:56083027-56083028	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369431131	chr7:56083028-56083029	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549892258	chr7:56083077-56083078	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568106904	chr7:56083212-56083213	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10251184	chr7:56083359-56083360	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566334092	chr7:56083363-56083364	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139845361	chr7:56083366-56083367	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565470894	chr7:56083369-56083370	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181348834	chr7:56083384-56083385	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149854213	chr7:56083413-56083414	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185430835	chr7:56083438-56083439	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34287940	chr7:56083462-56083463	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555541410	chr7:56083551-56083552	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574049983	chr7:56083583-56083584	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541180997	chr7:56083586-56083587	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559682068	chr7:56083603-56083604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188973193	chr7:56083616-56083617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60462259	chr7:56083618-56083619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181373518	chr7:56083624-56083625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144812951	chr7:56083632-56083633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371386655	chr7:56083642-56083643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549284826	chr7:56083643-56083644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531648290	chr7:56083659-56083660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549955673	chr7:56083748-56083749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56273635	chr7:56083777-56083778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568185442	chr7:56083830-56083831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567290802	chr7:56083857-56083858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547211653	chr7:56083898-56083899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565650422	chr7:56083899-56083900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187501483	chr7:56083904-56083905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535946192	chr7:56083920-56083921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148623380	chr7:56083921-56083922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191836587	chr7:56083935-56083936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537366773	chr7:56083979-56083980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376000449	chr7:56083997-56083998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574185413	chr7:56084089-56084090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35668227	chr7:56084096-56084097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183985815	chr7:56084196-56084197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569110208	chr7:56084256-56084257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553238027	chr7:56084266-56084267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34367217	chr7:56084270-56084271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371869238	chr7:56084280-56084281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76831938	chr7:56084282-56084283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186072263	chr7:56084286-56084287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566210356	chr7:56084293-56084294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191024678	chr7:56084316-56084317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377400414	chr7:56084320-56084321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563676402	chr7:56084350-56084351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370269937	chr7:56084420-56084421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Lung adenocarcinoma	21935476	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56049200-56101600	Weak transcription	Small Intestine	intestine
2	chr7:56050000-56086600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:56051400-56086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:56060600-56099600	Weak transcription	HUVEC	blood vessel
5	chr7:56063400-56089600	Weak transcription	NHDF-Ad	bronchial
6	chr7:56063400-56096800	Weak transcription	NH-A	brain
7	chr7:56063600-56101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:56063600-56101200	Weak transcription	NHLF	lung
9	chr7:56064400-56087200	Weak transcription	Aorta	Aorta
10	chr7:56064400-56087200	Weak transcription	Esophagus	oesophagus
11	chr7:56064400-56101400	Weak transcription	Gastric	stomach
12	chr7:56065000-56101400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:56065000-56101400	Weak transcription	Colonic Mucosa	Colon
14	chr7:56065400-56101400	Weak transcription	Fetal Brain Male	brain
15	chr7:56065800-56088400	Weak transcription	Fetal Kidney	kidney
16	chr7:56065800-56095800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:56066200-56086600	Weak transcription	Ovary	ovary
18	chr7:56066600-56087400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:56066800-56086000	Weak transcription	Brain Germinal Matrix	brain
20	chr7:56067000-56088600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:56067200-56087000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:56067200-56101400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:56067400-56087200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:56067400-56087600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:56067400-56100800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:56067800-56099600	Weak transcription	K562	blood
27	chr7:56068200-56086200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:56068200-56087400	Weak transcription	Adipose Nuclei	Adipose
29	chr7:56068200-56101200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:56068400-56087200	Weak transcription	Fetal Brain Female	brain
31	chr7:56072800-56087400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:56073000-56085800	Weak transcription	Right Ventricle	heart
33	chr7:56074400-56086400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:56075400-56101400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:56075800-56086600	Weak transcription	Hela-S3	cervix
36	chr7:56077200-56087200	Strong transcription	Fetal Intestine Small	intestine
37	chr7:56077600-56085600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:56077600-56087200	Weak transcription	Pancreas	Pancrea
39	chr7:56077600-56089200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:56077800-56083600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:56077800-56088000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:56077800-56099600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:56077800-56100600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:56078000-56083800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:56078000-56087200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:56078000-56087200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:56078000-56088200	Weak transcription	Brain Angular Gyrus	brain
48	chr7:56078200-56083200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:56078200-56083600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:56078200-56083800	Strong transcription	Fetal Muscle Trunk	muscle

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