Variant report

Variant	nsv1025054
Chromosome Location	chr7:4287728-4401128
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
2	chr7:4285802..4287439-chr7:4291050..4292753,2	MCF-7	breast:
3	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
4	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
5	chr7:4287888..4289875-chr7:4302608..4305550,2	MCF-7	breast:
6	chr7:4309758..4311351-chr7:4312992..4314606,2	K562	blood:
7	chr7:4309076..4311036-chr7:4311322..4313505,2	MCF-7	breast:
8	chr7:4302968..4305028-chr7:4309435..4311444,2	MCF-7	breast:
9	chr7:4302968..4305028-chr7:4309435..4311444,2	MCF-7	breast:
10	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
11	chr7:4311748..4314192-chr7:4314238..4316719,2	MCF-7	breast:
12	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
13	chr7:4266434..4268284-chr7:4284245..4288090,3	MCF-7	breast:
14	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
15	chr7:4309758..4311351-chr7:4312992..4314606,2	K562	blood:
16	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
17	chr7:4306283..4308245-chr7:4322606..4324838,2	MCF-7	breast:
18	chr7:4309076..4311036-chr7:4311322..4313505,2	MCF-7	breast:
19	chr7:4171607..4173163-chr7:4322084..4324253,2	K562	blood:
20	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
21	chr7:4306283..4308245-chr7:4322606..4324838,2	MCF-7	breast:
22	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
23	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
24	chr7:4287888..4289875-chr7:4302608..4305550,2	MCF-7	breast:
25	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
26	chr7:4311748..4314192-chr7:4314238..4316719,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146555	chromatin interactions

Extended variants
information (count: 2859 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2859 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147260085	chr7:4287744-4287745	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs80144113	chr7:4287749-4287750	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573426073	chr7:4287767-4287768	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182958530	chr7:4287772-4287773	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs79220655	chr7:4287791-4287792	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527965596	chr7:4287793-4287794	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547719985	chr7:4287806-4287807	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114488671	chr7:4287816-4287817	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368457161	chr7:4287818-4287819	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs80194647	chr7:4287826-4287827	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74600407	chr7:4287858-4287859	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549819024	chr7:4287870-4287871	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112625248	chr7:4287883-4287884	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35168770	chr7:4287885-4287886	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556358182	chr7:4287894-4287895	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144578855	chr7:4287910-4287911	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs188711959	chr7:4287919-4287920	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142255448	chr7:4287920-4287921	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374292607	chr7:4287932-4287933	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs117646746	chr7:4287943-4287944	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535463160	chr7:4287949-4287950	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554948894	chr7:4287957-4287958	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556858918	chr7:4287973-4287974	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376061893	chr7:4287987-4287988	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs367874287	chr7:4287988-4287989	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371675464	chr7:4288011-4288012	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35913974	chr7:4288026-4288027	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545608680	chr7:4288050-4288051	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs367665026	chr7:4288057-4288058	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559286796	chr7:4288058-4288059	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572546864	chr7:4288082-4288083	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35934805	chr7:4288083-4288084	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375437557	chr7:4288084-4288085	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs202168255	chr7:4288158-4288159	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs151335010	chr7:4288193-4288194	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561252021	chr7:4288197-4288198	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs530195075	chr7:4288203-4288204	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564448109	chr7:4288223-4288224	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs193293786	chr7:4288232-4288233	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs563755622	chr7:4288233-4288234	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs185160305	chr7:4288268-4288269	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs28971555	chr7:4288306-4288307	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs200890040	chr7:4288317-4288318	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs535018977	chr7:4288332-4288333	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs200114632	chr7:4288336-4288337	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs548463094	chr7:4288337-4288338	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs550247001	chr7:4288343-4288344	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs114050289	chr7:4288347-4288348	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs74862734	chr7:4288348-4288349	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs192201087	chr7:4288353-4288354	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4268000-4291800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:4275600-4287800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:4276600-4288600	Strong transcription	Aorta	Aorta
4	chr7:4278400-4296000	Weak transcription	Brain Germinal Matrix	brain
5	chr7:4280800-4287800	Weak transcription	Fetal Kidney	kidney
6	chr7:4282000-4288600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:4283200-4288400	Weak transcription	Brain Angular Gyrus	brain
8	chr7:4283600-4288000	Weak transcription	Fetal Brain Male	brain
9	chr7:4284400-4288000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:4284400-4290600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:4284600-4288800	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:4284800-4287800	Weak transcription	Adipose Nuclei	Adipose
13	chr7:4285000-4291200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:4285200-4287800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:4285200-4290200	Weak transcription	Right Ventricle	heart
16	chr7:4285600-4301200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:4285800-4291000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:4286000-4287800	Weak transcription	Fetal Brain Female	brain
19	chr7:4286200-4290800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:4286600-4287800	Enhancers	Fetal Stomach	stomach
21	chr7:4287200-4287800	Weak transcription	Fetal Lung	lung
22	chr7:4287200-4289200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:4287200-4289200	Strong transcription	Pancreas	Pancrea
24	chr7:4287600-4288000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:4287600-4288600	Strong transcription	Fetal Heart	heart
26	chr7:4287600-4289600	Weak transcription	Spleen	Spleen
27	chr7:4287600-4304200	Weak transcription	Gastric	stomach
28	chr7:4287800-4288400	Strong transcription	Adipose Nuclei	Adipose
29	chr7:4287800-4288600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:4287800-4288600	Strong transcription	Fetal Brain Female	brain
31	chr7:4287800-4288600	ZNF genes & repeats	Fetal Kidney	kidney
32	chr7:4287800-4288800	ZNF genes & repeats	Fetal Lung	lung
33	chr7:4287800-4289600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:4288000-4288600	Enhancers	Brain Anterior Caudate	brain
35	chr7:4288000-4288600	Strong transcription	Fetal Brain Male	brain
36	chr7:4288000-4288600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
37	chr7:4288000-4300800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:4288200-4288600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
39	chr7:4288400-4288600	Active TSS	Brain Angular Gyrus	brain
40	chr7:4288400-4289600	Weak transcription	Adipose Nuclei	Adipose
41	chr7:4288600-4288800	Weak transcription	Aorta	Aorta
42	chr7:4288600-4289000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:4288600-4290200	Weak transcription	Fetal Heart	heart
44	chr7:4288600-4290800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:4288600-4295600	Weak transcription	Fetal Brain Male	brain
46	chr7:4288600-4296000	Weak transcription	Fetal Brain Female	brain
47	chr7:4288600-4296000	Weak transcription	Fetal Kidney	kidney
48	chr7:4288600-4297800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:4288800-4289200	ZNF genes & repeats	Aorta	Aorta
50	chr7:4288800-4290800	Weak transcription	Fetal Lung	lung

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