Variant report

Variant	nsv605883
Chromosome Location	chr7:3256973-3320172
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:28)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3254572..3259584-chr7:3282203..3284323,4	MCF-7	breast:
2	chr7:3256947..3259532-chr7:3270807..3273199,2	MCF-7	breast:
3	chr7:3278981..3281763-chr7:3282187..3285186,3	K562	blood:
4	chr7:3278324..3280048-chr7:3280557..3282668,2	K562	blood:
5	chr7:3284325..3287180-chr7:3291361..3294316,3	MCF-7	breast:
6	chr7:3255528..3257837-chr7:3259945..3262892,2	MCF-7	breast:
7	chr7:3318661..3320574-chr7:3339181..3342087,2	MCF-7	breast:
8	chr7:3256947..3259532-chr7:3270807..3273199,2	MCF-7	breast:
9	chr7:3255775..3258559-chr7:3276222..3279313,3	MCF-7	breast:
10	chr7:3255932..3258041-chr7:3261586..3263750,2	MCF-7	breast:
11	chr7:3276084..3280543-chr7:3282350..3285635,4	MCF-7	breast:
12	chr7:3283973..3284780-chr7:3307461..3308331,2	MCF-7	breast:
13	chr7:3255528..3257837-chr7:3259945..3262892,2	MCF-7	breast:
14	chr7:3255932..3258041-chr7:3261586..3263750,2	MCF-7	breast:
15	chr7:3255775..3258559-chr7:3276222..3279313,3	MCF-7	breast:
16	chr7:3278324..3280048-chr7:3280557..3282668,2	K562	blood:
17	chr7:3276084..3280543-chr7:3282350..3285635,4	MCF-7	breast:
18	chr7:3254337..3257238-chr7:3340637..3342323,2	MCF-7	breast:
19	chr7:3278981..3281763-chr7:3282187..3285186,3	K562	blood:
20	chr7:3255245..3256305-chr7:3283809..3284534,3	MCF-7	breast:
21	chr7:3272491..3276076-chr7:3339000..3342579,3	MCF-7	breast:
22	chr7:3251471..3253553-chr7:3281258..3284246,2	MCF-7	breast:
23	chr7:3254376..3256017-chr7:3281440..3283827,2	MCF-7	breast:
24	chr7:3284325..3287180-chr7:3291361..3294316,3	MCF-7	breast:
25	chr1:192410577..192412599-chr7:3273666..3275762,2	MCF-7	breast:
26	chr7:3196705..3199377-chr7:3282005..3284080,2	MCF-7	breast:
27	chr7:3283973..3284780-chr7:3307461..3308331,2	MCF-7	breast:
28	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
ENSG00000236708	chromatin interactions
ENSG00000146555	chromatin interactions
ENSG00000217455	chromatin interactions

Extended variants
information (count: 3062 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3062 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13240649	chr7:3256973-3256974	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573865240	chr7:3256979-3256980	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543219394	chr7:3257000-3257001	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs183571975	chr7:3257020-3257021	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs73672038	chr7:3257027-3257028	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs544674364	chr7:3257031-3257032	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564913386	chr7:3257041-3257042	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs527567274	chr7:3257058-3257059	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547741904	chr7:3257065-3257066	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs561183118	chr7:3257066-3257067	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529810000	chr7:3257090-3257091	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187087939	chr7:3257142-3257143	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs149254424	chr7:3257143-3257144	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs377015128	chr7:3257156-3257157	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs538378709	chr7:3257165-3257166	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs73041568	chr7:3257190-3257191	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571337441	chr7:3257238-3257239	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs147342886	chr7:3257278-3257279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538636085	chr7:3257282-3257283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202178153	chr7:3257344-3257345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374596565	chr7:3257360-3257361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562603368	chr7:3257365-3257366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs67104472	chr7:3257372-3257373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs398003443	chr7:3257378-3257379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35784112	chr7:3257385-3257386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554006424	chr7:3257425-3257426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547691956	chr7:3257430-3257431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559464739	chr7:3257439-3257440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574282184	chr7:3257456-3257457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536397640	chr7:3257459-3257460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533179364	chr7:3257467-3257468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138216756	chr7:3257468-3257469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375791249	chr7:3257486-3257487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551587286	chr7:3257492-3257493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545123286	chr7:3257509-3257510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143680242	chr7:3257510-3257511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147194312	chr7:3257518-3257519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377263848	chr7:3257523-3257524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555107546	chr7:3257526-3257527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537349249	chr7:3257528-3257529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530052894	chr7:3257536-3257537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138619265	chr7:3257549-3257550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191943468	chr7:3257554-3257555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563534934	chr7:3257559-3257560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531692126	chr7:3257564-3257565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551436484	chr7:3257572-3257573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183750945	chr7:3257596-3257597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568451492	chr7:3257598-3257599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527637127	chr7:3257610-3257611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62439549	chr7:3257622-3257623	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3255400-3257200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3255400-3257200	Enhancers	Pancreas	Pancrea
3	chr7:3255600-3258400	Enhancers	Left Ventricle	heart
4	chr7:3255600-3258800	Enhancers	Stomach Mucosa	stomach
5	chr7:3256000-3257200	Enhancers	Right Ventricle	heart
6	chr7:3256000-3258200	Enhancers	Fetal Heart	heart
7	chr7:3256200-3257000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:3256200-3257800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:3256800-3257000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:3256800-3257600	Weak transcription	Aorta	Aorta
11	chr7:3257000-3257400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:3257000-3257400	Enhancers	Brain Hippocampus Middle	brain
13	chr7:3257000-3258800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr7:3257200-3258400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:3257200-3258800	Weak transcription	Right Ventricle	heart
16	chr7:3257200-3259000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr7:3257200-3260000	Weak transcription	Pancreas	Pancrea
18	chr7:3257400-3257800	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:3257600-3257800	Enhancers	Aorta	Aorta
20	chr7:3257600-3258200	Enhancers	Right Atrium	heart
21	chr7:3257600-3259000	Enhancers	Fetal Brain Female	brain
22	chr7:3257800-3258200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:3257800-3258200	Weak transcription	Aorta	Aorta
24	chr7:3257800-3258600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:3257800-3258800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:3257800-3258800	Enhancers	Brain Hippocampus Middle	brain
27	chr7:3257800-3258800	Enhancers	Stomach Smooth Muscle	stomach
28	chr7:3257800-3259000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:3257800-3259000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr7:3257800-3259000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:3257800-3259000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr7:3257800-3259400	Enhancers	HepG2	liver
33	chr7:3258000-3258200	Flanking Active TSS	HSMMtube	muscle
34	chr7:3258000-3258400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:3258000-3258800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:3258000-3259000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:3258000-3259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:3258000-3259000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:3258000-3259000	Enhancers	Fetal Kidney	kidney
40	chr7:3258000-3259200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:3258200-3258400	Flanking Active TSS	Fetal Heart	heart
42	chr7:3258200-3258400	Bivalent/Poised TSS	NH-A	brain
43	chr7:3258200-3258600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:3258200-3258600	Enhancers	Colon Smooth Muscle	Colon
45	chr7:3258200-3258800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:3258200-3258800	Enhancers	Aorta	Aorta
47	chr7:3258200-3258800	Enhancers	Liver	Liver
48	chr7:3258200-3259000	Enhancers	Duodenum Mucosa	Duodenum
49	chr7:3258200-3259000	Enhancers	Fetal Intestine Small	intestine
50	chr7:3258200-3259200	Enhancers	Fetal Lung	lung

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