Variant report

Variant	nsv606250
Chromosome Location	chr7:13220948-13254927
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:1)
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	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
2	chr7:12725963..12728528-chr7:13221189..13225092,3	K562	blood:
3	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:
4	chr7:12727028..12729101-chr7:13222330..13224428,2	K562	blood:
5	chr7:13134342..13136300-chr7:13222418..13225299,2	MCF-7	breast:
6	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
7	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
8	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
9	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-7	chr7:13223695-13223818	NONHSAT119248

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions

Extended variants
information (count: 1278 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1278 , 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	rs2012637	chr7:13220948-13220949	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551661421	chr7:13220955-13220956	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143321934	chr7:13220976-13220977	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536664656	chr7:13221013-13221014	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550523872	chr7:13221044-13221045	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553113569	chr7:13221141-13221142	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2012648	chr7:13221150-13221151	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113793157	chr7:13221176-13221177	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146237319	chr7:13221225-13221226	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370889108	chr7:13221230-13221231	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs373116228	chr7:13221235-13221236	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187773352	chr7:13221262-13221263	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373970325	chr7:13221277-13221278	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575460870	chr7:13221318-13221319	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs117768207	chr7:13221326-13221327	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190738185	chr7:13221334-13221335	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182946150	chr7:13221340-13221341	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537109053	chr7:13221348-13221349	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542709198	chr7:13221375-13221376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559374487	chr7:13221393-13221394	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528670582	chr7:13221396-13221397	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545164815	chr7:13221403-13221404	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs116389897	chr7:13221417-13221418	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553639656	chr7:13221452-13221453	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139338201	chr7:13221464-13221465	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550342685	chr7:13221476-13221477	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs188271764	chr7:13221562-13221563	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs10226477	chr7:13221584-13221585	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577085435	chr7:13221590-13221591	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201249861	chr7:13221602-13221603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs149947708	chr7:13221617-13221618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566530262	chr7:13221664-13221665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs193071590	chr7:13221672-13221673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs546135463	chr7:13221756-13221757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs377700578	chr7:13221758-13221759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184923829	chr7:13221772-13221773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569083469	chr7:13221782-13221783	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs117352926	chr7:13221795-13221796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561252687	chr7:13221818-13221819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1029733	chr7:13221870-13221871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77269509	chr7:13221899-13221900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541856939	chr7:13221933-13221934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559401532	chr7:13221970-13221971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188217158	chr7:13221977-13221978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375099347	chr7:13221980-13221981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531768072	chr7:13221986-13221987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs528388586	chr7:13221997-13221998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565464133	chr7:13222014-13222015	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs145112544	chr7:13222045-13222046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs115108931	chr7:13222046-13222047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13218600-13221600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr7:13219600-13221000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:13220000-13221000	Weak transcription	Fetal Stomach	stomach
4	chr7:13220000-13221200	Weak transcription	Fetal Kidney	kidney
5	chr7:13220000-13221400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:13220000-13223600	Weak transcription	HepG2	liver
7	chr7:13220600-13221000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:13220600-13221000	Enhancers	Colon Smooth Muscle	Colon
9	chr7:13220600-13221200	Enhancers	Fetal Muscle Leg	muscle
10	chr7:13220800-13221200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:13220800-13221200	Enhancers	Fetal Brain Female	brain
12	chr7:13220800-13221200	Flanking Active TSS	A549	lung
13	chr7:13220800-13221400	Enhancers	Brain Substantia Nigra	brain
14	chr7:13221000-13221400	Enhancers	Fetal Stomach	stomach
15	chr7:13221200-13221400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:13221200-13221400	Enhancers	Fetal Kidney	kidney
17	chr7:13221200-13221400	Enhancers	A549	lung
18	chr7:13223600-13225800	Enhancers	HepG2	liver
19	chr7:13224800-13225200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:13227200-13228400	Enhancers	Fetal Brain Female	brain
21	chr7:13227400-13229400	Enhancers	Fetal Brain Male	brain
22	chr7:13228400-13228600	Weak transcription	Fetal Brain Female	brain
23	chr7:13228600-13229000	Enhancers	Fetal Brain Female	brain
24	chr7:13228600-13230000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:13229400-13230400	Weak transcription	Fetal Brain Male	brain
26	chr7:13230400-13230600	Enhancers	Fetal Brain Male	brain
27	chr7:13232600-13233000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:13232600-13233000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:13233000-13236200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:13236200-13236600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:13236200-13236800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:13236800-13237200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:13236800-13238400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:13236800-13239400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:13237000-13238400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:13237000-13239000	Enhancers	Hela-S3	cervix
37	chr7:13237000-13239200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:13237200-13237800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:13237200-13238200	Enhancers	NHEK	skin
40	chr7:13237200-13240600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr7:13237400-13237800	Enhancers	NH-A	brain
42	chr7:13237400-13237800	Enhancers	Osteobl	bone
43	chr7:13237600-13238200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:13238200-13238600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:13238600-13239000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:13238800-13239600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:13240600-13241000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:13241000-13241600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr7:13241600-13243000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:13243000-13244400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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