Variant report

Variant	nsv887647
Chromosome Location	chr7:13146222-13262586
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:48)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13146450..13148956-chr7:13151839..13153573,2	MCF-7	breast:
2	chr7:12725963..12728528-chr7:13221189..13225092,3	K562	blood:
3	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
4	chr7:13180182..13182648-chr7:13184471..13186941,2	K562	blood:
5	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:
6	chr7:12725278..12725831-chr7:13218360..13219347,3	MCF-7	breast:
7	chr7:13195061..13198037-chr7:13199556..13201286,2	K562	blood:
8	chr7:13212799..13215585-chr7:13218700..13220945,2	K562	blood:
9	chr7:13145074..13147493-chr7:13153724..13155360,2	MCF-7	breast:
10	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
11	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
12	chr7:13180182..13182648-chr7:13184471..13186941,2	K562	blood:
13	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
14	chr7:13146450..13148956-chr7:13151839..13153573,2	MCF-7	breast:
15	chr7:13211183..13213197-chr7:13214894..13216654,2	K562	blood:
16	chr7:13195061..13198037-chr7:13199556..13201286,2	K562	blood:
17	chr7:13211183..13213197-chr7:13214894..13216654,2	K562	blood:
18	chr7:13134342..13136300-chr7:13222418..13225299,2	MCF-7	breast:
19	chr7:13189358..13191512-chr7:13195499..13197059,2	K562	blood:
20	chr7:13086829..13088462-chr7:13155188..13156937,2	K562	blood:
21	chr20:52401294..52403111-chr7:13210219..13212096,2	MCF-7	breast:
22	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
23	chr7:12713108..12716058-chr7:13259369..13262315,2	K562	blood:
24	chr7:13195077..13196666-chr7:13196806..13198441,2	MCF-7	breast:
25	chr7:13187144..13190009-chr7:13193078..13195345,2	K562	blood:
26	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:
27	chr7:13189358..13191512-chr7:13195499..13197059,2	K562	blood:
28	chr7:13195077..13196666-chr7:13196806..13198441,2	MCF-7	breast:
29	chr7:12727028..12729101-chr7:13222330..13224428,2	K562	blood:
30	chr7:12678156..12678755-chr7:13218288..13219237,2	MCF-7	breast:
31	chr7:12726542..12728897-chr7:13150585..13153553,2	MCF-7	breast:
32	chr7:13146440..13148600-chr7:13150373..13152655,2	K562	blood:
33	chr7:12722672..12723612-chr7:13218588..13219274,2	MCF-7	breast:
34	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
35	chr7:13146440..13148600-chr7:13150373..13152655,2	K562	blood:
36	chr7:12980961..12983258-chr7:13154370..13156023,2	MCF-7	breast:
37	chr7:12726389..12727416-chr7:13156220..13157643,5	MCF-7	breast:
38	chr7:12869802..12871805-chr7:13260631..13263120,2	K562	blood:
39	chr7:12726572..12727399-chr7:13154701..13155615,3	MCF-7	breast:
40	chr7:13145074..13147493-chr7:13153724..13155360,2	MCF-7	breast:
41	chr7:13212799..13215585-chr7:13218700..13220945,2	K562	blood:
42	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
43	chr7:12726894..12727511-chr7:13156668..13157359,2	MCF-7	breast:
44	chr7:12726743..12727464-chr7:13218413..13219282,2	MCF-7	breast:
45	chr7:13187144..13190009-chr7:13193078..13195345,2	K562	blood:
46	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
47	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:
48	chr7:12726065..12729797-chr7:13154020..13158072,4	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-1	chr7:13257170-13257293	XLOC_005988
2	lnc-ARL4A-7	chr7:13223695-13223818	NONHSAT119248

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions

Extended variants
information (count: 3831 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:3831 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2108929	chr7:13146222-13146223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111516183	chr7:13146256-13146257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540647843	chr7:13146257-13146258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149340161	chr7:13146291-13146292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144674931	chr7:13146394-13146395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139566381	chr7:13146395-13146396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563365234	chr7:13146404-13146405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529083430	chr7:13146418-13146419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371989445	chr7:13146451-13146452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35392811	chr7:13146454-13146455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs6962417	chr7:13146491-13146492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556242200	chr7:13146500-13146501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117795640	chr7:13146520-13146521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61310302	chr7:13146531-13146532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146587794	chr7:13146575-13146576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140111988	chr7:13146601-13146602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184893405	chr7:13146682-13146683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556007353	chr7:13146779-13146780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73259880	chr7:13146785-13146786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535670441	chr7:13146799-13146800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555514346	chr7:13146817-13146818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2357195	chr7:13146818-13146819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189785362	chr7:13146838-13146839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541730881	chr7:13146874-13146875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4591917	chr7:13146930-13146931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557509182	chr7:13146950-13146951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3062955	chr7:13146962-13146963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34225655	chr7:13146963-13146964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201320626	chr7:13146965-13146966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2357196	chr7:13146966-13146967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6943435	chr7:13147054-13147055	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543186519	chr7:13147097-13147098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557032986	chr7:13147104-13147105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372608526	chr7:13147106-13147107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142415649	chr7:13147113-13147114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559546198	chr7:13147124-13147125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528434780	chr7:13147149-13147150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181037661	chr7:13147159-13147160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116560310	chr7:13147178-13147179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116105394	chr7:13147179-13147180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151313995	chr7:13147181-13147182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185297161	chr7:13147201-13147202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191047263	chr7:13147258-13147259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530697530	chr7:13147285-13147286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113620416	chr7:13147287-13147288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181795427	chr7:13147311-13147312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10950436	chr7:13147318-13147319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs6967484	chr7:13147335-13147336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571812142	chr7:13147336-13147337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542932131	chr7:13147384-13147385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13139200-13146600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:13139200-13147200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:13142400-13147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:13144200-13149000	Weak transcription	Liver	Liver
5	chr7:13144600-13148800	Weak transcription	HepG2	liver
6	chr7:13146600-13147800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:13147200-13147600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:13147600-13147800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:13147600-13147800	Enhancers	Esophagus	oesophagus
10	chr7:13147800-13148800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:13147800-13149200	Weak transcription	Esophagus	oesophagus
12	chr7:13148800-13149200	Enhancers	HepG2	liver
13	chr7:13148800-13149400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:13148800-13150000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:13149000-13149200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:13149000-13149400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:13149000-13149400	Enhancers	Liver	Liver
18	chr7:13149000-13150000	Enhancers	Gastric	stomach
19	chr7:13149200-13149800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:13149200-13150000	ZNF genes & repeats	Esophagus	oesophagus
21	chr7:13149200-13150200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:13149200-13154600	Weak transcription	HepG2	liver
23	chr7:13149800-13150000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:13150000-13150800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:13150000-13154400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:13153400-13154000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:13154000-13154400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:13154400-13155000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:13154400-13155200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:13154400-13155400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:13154400-13155400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:13154400-13155400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:13154400-13155400	Enhancers	Placenta	Placenta
34	chr7:13154400-13155400	Enhancers	HMEC	breast
35	chr7:13154400-13155400	Enhancers	K562	blood
36	chr7:13154400-13155400	Enhancers	NHEK	skin
37	chr7:13154400-13155800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:13154400-13155800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:13154400-13156000	Enhancers	HSMMtube	muscle
40	chr7:13154400-13156400	Enhancers	A549	lung
41	chr7:13154400-13157800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:13154600-13154800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:13154600-13155200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:13154600-13155200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr7:13154600-13155200	Enhancers	HepG2	liver
46	chr7:13154600-13155400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:13154600-13155400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr7:13154600-13155600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:13154800-13155000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:13154800-13155200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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