Variant report

Variant	nsv522584
Chromosome Location	chr7:3264728-3319399
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:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3278324..3280048-chr7:3280557..3282668,2	K562	blood:
2	chr7:3272491..3276076-chr7:3339000..3342579,3	MCF-7	breast:
3	chr7:3251471..3253553-chr7:3281258..3284246,2	MCF-7	breast:
4	chr7:3318661..3320574-chr7:3339181..3342087,2	MCF-7	breast:
5	chr7:3196705..3199377-chr7:3282005..3284080,2	MCF-7	breast:
6	chr1:192410577..192412599-chr7:3273666..3275762,2	MCF-7	breast:
7	chr7:3278981..3281763-chr7:3282187..3285186,3	K562	blood:
8	chr7:3278981..3281763-chr7:3282187..3285186,3	K562	blood:
9	chr7:3283973..3284780-chr7:3307461..3308331,2	MCF-7	breast:
10	chr7:3254376..3256017-chr7:3281440..3283827,2	MCF-7	breast:
11	chr7:3276084..3280543-chr7:3282350..3285635,4	MCF-7	breast:
12	chr7:3256947..3259532-chr7:3270807..3273199,2	MCF-7	breast:
13	chr7:3283973..3284780-chr7:3307461..3308331,2	MCF-7	breast:
14	chr7:3284325..3287180-chr7:3291361..3294316,3	MCF-7	breast:
15	chr7:3255245..3256305-chr7:3283809..3284534,3	MCF-7	breast:
16	chr7:3284325..3287180-chr7:3291361..3294316,3	MCF-7	breast:
17	chr7:3278324..3280048-chr7:3280557..3282668,2	K562	blood:
18	chr7:3255775..3258559-chr7:3276222..3279313,3	MCF-7	breast:
19	chr7:3276084..3280543-chr7:3282350..3285635,4	MCF-7	breast:
20	chr7:3254572..3259584-chr7:3282203..3284323,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC091801.1.1-6	chr7:3303664-3304421	ENSG00000236708.1

No data

Variant related genes	Relation type
ENSG00000146555	chromatin interactions
ENSG00000236708	chromatin interactions
ENSG00000217455	chromatin interactions

Extended variants
information (count: 2665 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2665 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13223655	chr7:3264728-3264729	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563980483	chr7:3264729-3264730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116486413	chr7:3264755-3264756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189837507	chr7:3264794-3264795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565755779	chr7:3264797-3264798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528206518	chr7:3264847-3264848	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73299051	chr7:3264862-3264863	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4719863	chr7:3264878-3264879	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115845126	chr7:3264891-3264892	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561340248	chr7:3264892-3264893	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368995860	chr7:3264895-3264896	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528712070	chr7:3264905-3264906	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10270026	chr7:3264953-3264954	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539248859	chr7:3264971-3264972	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552933717	chr7:3265008-3265009	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572487734	chr7:3265015-3265016	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547199834	chr7:3265056-3265057	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560738054	chr7:3265058-3265059	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112634584	chr7:3265062-3265063	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571935571	chr7:3265089-3265090	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538959436	chr7:3265123-3265124	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76892410	chr7:3265187-3265188	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192787218	chr7:3265209-3265210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568767612	chr7:3265263-3265264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555068520	chr7:3265302-3265303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374937567	chr7:3265314-3265315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184285474	chr7:3265333-3265334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371373478	chr7:3265339-3265340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554260403	chr7:3265361-3265362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151000295	chr7:3265362-3265363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58150781	chr7:3265374-3265375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377346455	chr7:3265375-3265376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10260061	chr7:3265464-3265465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563967995	chr7:3265472-3265473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189186145	chr7:3265481-3265482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113471388	chr7:3265485-3265486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181840121	chr7:3265504-3265505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535795406	chr7:3265505-3265506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544010991	chr7:3265520-3265521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547946148	chr7:3265526-3265527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369597335	chr7:3265552-3265553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568159571	chr7:3265556-3265557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554263715	chr7:3265569-3265570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566216662	chr7:3265570-3265571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186494725	chr7:3265592-3265593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376252478	chr7:3265605-3265606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189609832	chr7:3265625-3265626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570405259	chr7:3265626-3265627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562624752	chr7:3265628-3265629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372385688	chr7:3265666-3265667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Urothelial carcinoma	21177765	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3258800-3266800	Weak transcription	Aorta	Aorta
2	chr7:3262400-3271800	Weak transcription	Left Ventricle	heart
3	chr7:3264200-3264800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:3264200-3266200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:3264600-3264800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:3264800-3265200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:3264800-3266200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:3266200-3266800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:3266200-3267000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:3266800-3267000	Enhancers	Aorta	Aorta
11	chr7:3267000-3267400	Weak transcription	Aorta	Aorta
12	chr7:3267200-3267600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:3267200-3267800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:3267200-3267800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr7:3267200-3267800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr7:3267200-3267800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:3267200-3268000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr7:3267400-3267600	Enhancers	Aorta	Aorta
19	chr7:3267400-3267800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:3267400-3267800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr7:3267400-3267800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr7:3267400-3267800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr7:3267400-3268000	Enhancers	Primary hematopoietic stem cells	blood
24	chr7:3267400-3268800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:3267600-3268000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:3267600-3273000	Weak transcription	Aorta	Aorta
27	chr7:3268000-3268800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:3270600-3270800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:3270800-3271800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:3271600-3272000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:3271600-3272600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:3271600-3272800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:3271800-3272000	Enhancers	Fetal Heart	heart
34	chr7:3271800-3272000	Enhancers	Fetal Lung	lung
35	chr7:3271800-3272000	Enhancers	Left Ventricle	heart
36	chr7:3271800-3272000	Enhancers	Right Atrium	heart
37	chr7:3271800-3272200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:3271800-3272200	Enhancers	HSMMtube	muscle
39	chr7:3272000-3272400	Enhancers	Adipose Nuclei	Adipose
40	chr7:3272000-3272800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:3272000-3272800	Weak transcription	Left Ventricle	heart
42	chr7:3272000-3273000	Weak transcription	Fetal Heart	heart
43	chr7:3272000-3273200	Weak transcription	Right Atrium	heart
44	chr7:3272600-3273200	Enhancers	Primary T cells from cord blood	blood
45	chr7:3272800-3273000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:3272800-3273000	Enhancers	Left Ventricle	heart
47	chr7:3273000-3273400	Enhancers	Aorta	Aorta
48	chr7:3273000-3273400	Enhancers	Fetal Heart	heart
49	chr7:3273200-3274000	Enhancers	Right Atrium	heart
50	chr7:3273400-3275600	Weak transcription	Aorta	Aorta

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