Variant report

Variant	nsv538674
Chromosome Location	chr7:3539750-3561312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
2	chr7:3537080..3539372-chr7:3543955..3546696,2	MCF-7	breast:
3	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
4	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
5	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
6	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
7	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
8	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
9	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:

No data

Extended variants
information (count: 1281 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557798623	chr7:3539770-3539771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577227367	chr7:3539786-3539787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539795339	chr7:3539804-3539805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17133467	chr7:3539819-3539820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573589148	chr7:3539841-3539842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377732552	chr7:3539866-3539867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542842238	chr7:3539891-3539892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562563559	chr7:3539900-3539901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183624976	chr7:3539921-3539922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554754558	chr7:3539930-3539931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550806025	chr7:3539949-3539950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115516054	chr7:3539968-3539969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188476397	chr7:3539971-3539972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181904133	chr7:3539975-3539976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370813565	chr7:3539985-3539986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535755686	chr7:3540026-3540027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549621804	chr7:3540031-3540032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569364387	chr7:3540042-3540043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142595084	chr7:3540081-3540082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185701876	chr7:3540113-3540114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577314081	chr7:3540121-3540122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533582184	chr7:3540122-3540123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145999993	chr7:3540135-3540136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10274012	chr7:3540241-3540242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs138364971	chr7:3540247-3540248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141872085	chr7:3540280-3540281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190163862	chr7:3540281-3540282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150616226	chr7:3540330-3540331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564612275	chr7:3540339-3540340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543902520	chr7:3540358-3540359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541810921	chr7:3540361-3540362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533452277	chr7:3540364-3540365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181569529	chr7:3540379-3540380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556394879	chr7:3540390-3540391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560495106	chr7:3540402-3540403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375777428	chr7:3540426-3540427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532445458	chr7:3540446-3540447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187032137	chr7:3540473-3540474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11983943	chr7:3540547-3540548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538100992	chr7:3540580-3540581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368881926	chr7:3540584-3540585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371357701	chr7:3540586-3540587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11773388	chr7:3540594-3540595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536654440	chr7:3540619-3540620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60207294	chr7:3540644-3540645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560392868	chr7:3540679-3540680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553417521	chr7:3540700-3540701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527532672	chr7:3540708-3540709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149856033	chr7:3540752-3540753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536198547	chr7:3540775-3540776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3534800-3545000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:3545000-3545200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
3	chr7:3545000-3545600	ZNF genes & repeats	Aorta	Aorta
4	chr7:3545400-3548000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3545600-3547000	Weak transcription	Aorta	Aorta
6	chr7:3546200-3546400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:3547000-3547400	Enhancers	Aorta	Aorta
8	chr7:3548000-3550800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:3548600-3550000	Enhancers	Fetal Brain Male	brain
10	chr7:3548600-3550200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:3549200-3549400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:3549200-3550800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:3549200-3550800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:3549400-3550600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:3549400-3550800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:3549400-3550800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:3549400-3550800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:3549400-3550800	Enhancers	Primary B cells from cord blood	blood
19	chr7:3549400-3577000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:3549600-3550000	Enhancers	HSMM	muscle
21	chr7:3549600-3550000	Enhancers	NH-A	brain
22	chr7:3549600-3550400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:3549600-3550400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr7:3549600-3550600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:3549600-3550600	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:3549600-3550800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:3549600-3550800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:3549600-3550800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:3549800-3550800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:3549800-3550800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:3549800-3550800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:3550000-3550200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:3550000-3554400	Weak transcription	Fetal Brain Male	brain
34	chr7:3550200-3552800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:3550800-3557200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:3551400-3551600	Enhancers	Pancreas	Pancrea
37	chr7:3551600-3557000	Weak transcription	Pancreas	Pancrea
38	chr7:3552000-3552200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:3554400-3555200	Enhancers	Fetal Brain Male	brain
40	chr7:3554600-3554800	Enhancers	Aorta	Aorta
41	chr7:3554600-3555800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr7:3554800-3563000	Weak transcription	Aorta	Aorta
43	chr7:3555800-3556200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:3556200-3557600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:3556200-3559800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr7:3557000-3557400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:3557000-3557400	Enhancers	Primary T cells from cord blood	blood
48	chr7:3557000-3557400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr7:3557000-3557400	Enhancers	Pancreas	Pancrea
50	chr7:3557000-3557600	Enhancers	Primary neutrophils fromperipheralblood	blood

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