Variant report

Variant	nsv824119
Chromosome Location	chr7:56088201-56089499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148938542	chr7:56088271-56088272	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560536036	chr7:56088276-56088277	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559967118	chr7:56088312-56088313	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527752922	chr7:56088317-56088318	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374365759	chr7:56088319-56088320	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552281931	chr7:56088341-56088342	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77072618	chr7:56088365-56088366	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564123082	chr7:56088368-56088369	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531635038	chr7:56088374-56088375	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139622541	chr7:56088403-56088404	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79633407	chr7:56088419-56088420	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550596342	chr7:56088447-56088448	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374616680	chr7:56088460-56088461	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569084838	chr7:56088466-56088467	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77554995	chr7:56088473-56088474	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536163476	chr7:56088491-56088492	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373457903	chr7:56088511-56088512	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368089062	chr7:56088517-56088518	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548328963	chr7:56088518-56088519	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566692574	chr7:56088520-56088521	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533860445	chr7:56088521-56088522	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376440524	chr7:56088524-56088525	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200049455	chr7:56088539-56088540	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368694806	chr7:56088553-56088554	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558728508	chr7:56088562-56088563	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200311678	chr7:56088563-56088564	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183507275	chr7:56088578-56088579	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76993458	chr7:56088591-56088592	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74780637	chr7:56088595-56088596	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73698984	chr7:56088630-56088631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528671529	chr7:56088678-56088679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75524759	chr7:56088692-56088693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79429853	chr7:56088712-56088713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537797075	chr7:56088717-56088718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376830377	chr7:56088726-56088727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548513131	chr7:56088777-56088778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201419960	chr7:56088778-56088779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367767003	chr7:56088779-56088780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75497420	chr7:56088780-56088781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202027697	chr7:56088786-56088787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141764548	chr7:56088788-56088789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199851385	chr7:56088789-56088790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147077540	chr7:56088791-56088792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78599516	chr7:56088811-56088812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs104894035	chr7:56088812-56088813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74445297	chr7:56088825-56088826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145408555	chr7:56088834-56088835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201376678	chr7:56088846-56088847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549748554	chr7:56088848-56088849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545883291	chr7:56088897-56088898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Gastric cancer	17229543	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:180 , 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	chr7:56060600-56099600	Weak transcription	HUVEC	blood vessel
3	chr7:56063400-56089600	Weak transcription	NHDF-Ad	bronchial
4	chr7:56063400-56096800	Weak transcription	NH-A	brain
5	chr7:56063600-56101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:56063600-56101200	Weak transcription	NHLF	lung
7	chr7:56064400-56101400	Weak transcription	Gastric	stomach
8	chr7:56065000-56101400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:56065000-56101400	Weak transcription	Colonic Mucosa	Colon
10	chr7:56065400-56101400	Weak transcription	Fetal Brain Male	brain
11	chr7:56065800-56088400	Weak transcription	Fetal Kidney	kidney
12	chr7:56065800-56095800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:56067000-56088600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:56067200-56101400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr7:56067400-56100800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:56067800-56099600	Weak transcription	K562	blood
17	chr7:56068200-56101200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:56075400-56101400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:56077600-56089200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:56077800-56099600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:56077800-56100600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:56078200-56089200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr7:56078200-56089200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:56078200-56091000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:56078200-56091200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:56078200-56099800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:56078200-56101200	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:56078400-56089000	Strong transcription	Dnd41	blood
29	chr7:56078400-56091200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:56078400-56094400	Weak transcription	HMEC	breast
31	chr7:56081600-56097000	Weak transcription	Placenta	Placenta
32	chr7:56082200-56101200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:56082600-56101200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:56083000-56088400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:56083200-56092800	Weak transcription	HSMM	muscle
36	chr7:56083400-56088600	Weak transcription	GM12878-XiMat	blood
37	chr7:56083600-56096800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:56084600-56089000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr7:56084600-56089400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:56084600-56089400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:56084800-56088400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:56084800-56089000	Strong transcription	Liver	Liver
43	chr7:56085000-56089000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:56085200-56089800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:56085400-56088600	Genic enhancers	Fetal Intestine Large	intestine
46	chr7:56085400-56089200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:56085600-56089000	Strong transcription	Left Ventricle	heart
48	chr7:56085600-56094400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:56085800-56089000	Strong transcription	Right Ventricle	heart
50	chr7:56085800-56089200	Strong transcription	NHEK	skin

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