Variant report

Variant	nsv521756
Chromosome Location	chr7:12840090-12852124
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12839807..12841884-chr7:12848614..12851118,2	K562	blood:
2	chr7:12752598..12755770-chr7:12846803..12850536,3	K562	blood:
3	chr7:12842993..12845876-chr7:12849067..12850592,2	K562	blood:
4	chr7:12732805..12735607-chr7:12848862..12851491,2	K562	blood:
5	chr7:12818300..12820351-chr7:12841940..12843743,2	K562	blood:
6	chr7:12729413..12731637-chr7:12843330..12845682,3	K562	blood:
7	chr7:12839996..12842956-chr7:12845077..12847690,3	K562	blood:
8	chr7:12835963..12838649-chr7:12840426..12842028,2	K562	blood:
9	chr7:12844977..12847724-chr7:12851734..12854680,3	K562	blood:
10	chr7:12847834..12849363-chr7:12852693..12855158,2	K562	blood:
11	chr7:12839807..12841884-chr7:12848614..12851118,2	K562	blood:
12	chr7:12844977..12847724-chr7:12851734..12854680,3	K562	blood:
13	chr7:12839996..12842956-chr7:12845077..12847690,3	K562	blood:
14	chr7:12829364..12832120-chr7:12840009..12842222,2	MCF-7	breast:
15	chr7:12842993..12845876-chr7:12849067..12850592,2	K562	blood:
16	chr7:12753064..12757665-chr7:12839772..12843667,5	K562	blood:
17	chr7:12769404..12771505-chr7:12844117..12845724,2	K562	blood:
18	chr7:12802710..12805631-chr7:12843539..12845086,2	K562	blood:
19	chr7:12724034..12732109-chr7:12833312..12840531,10	K562	blood:
20	chr7:12848902..12851417-chr7:12852205..12854551,2	MCF-7	breast:
21	chr7:12727055..12727630-chr7:12845268..12846026,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions
ENSG00000271253	chromatin interactions

Extended variants
information (count: 489 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7792487	chr7:12840090-12840091	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556873958	chr7:12840127-12840128	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs189964481	chr7:12840201-12840202	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543818170	chr7:12840205-12840206	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542422243	chr7:12840220-12840221	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs559174925	chr7:12840237-12840238	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375248100	chr7:12840250-12840251	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572822027	chr7:12840254-12840255	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73064127	chr7:12840255-12840256	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs564535940	chr7:12840262-12840263	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529990413	chr7:12840271-12840272	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs377124240	chr7:12840316-12840317	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565340680	chr7:12840403-12840404	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182266233	chr7:12840410-12840411	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529463568	chr7:12840435-12840436	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs368327257	chr7:12840468-12840469	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546933936	chr7:12840487-12840488	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs186457615	chr7:12840510-12840511	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs115184894	chr7:12840514-12840515	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs372311559	chr7:12840523-12840524	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs571268706	chr7:12840557-12840558	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536738321	chr7:12840563-12840564	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556597649	chr7:12840566-12840567	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532657868	chr7:12840582-12840583	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13233019	chr7:12840583-12840584	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs34150302	chr7:12840645-12840646	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536010603	chr7:12840785-12840786	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs140586176	chr7:12840787-12840788	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs190916872	chr7:12840798-12840799	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs545312514	chr7:12840802-12840803	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs111400858	chr7:12840805-12840806	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577932019	chr7:12840845-12840846	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs12538097	chr7:12840867-12840868	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563745912	chr7:12840960-12840961	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552395671	chr7:12840971-12840972	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs149728143	chr7:12841038-12841039	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145560137	chr7:12841048-12841049	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73292080	chr7:12841054-12841055	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs560016284	chr7:12841098-12841099	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs528778303	chr7:12841108-12841109	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs148862774	chr7:12841153-12841154	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs571856460	chr7:12841199-12841200	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs12538194	chr7:12841215-12841216	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373708872	chr7:12841218-12841219	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs7797619	chr7:12841226-12841227	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535975004	chr7:12841253-12841254	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs552724783	chr7:12841270-12841271	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs189040971	chr7:12841284-12841285	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs538466823	chr7:12841285-12841286	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs12538763	chr7:12841380-12841381	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12828600-12840200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:12834800-12841800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:12837200-12840200	Weak transcription	K562	blood
4	chr7:12838400-12844200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:12838800-12840400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:12839000-12840200	Weak transcription	Stomach Mucosa	stomach
7	chr7:12839000-12845600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:12839800-12843000	Enhancers	Fetal Intestine Small	intestine
9	chr7:12840000-12840200	Enhancers	HSMMtube	muscle
10	chr7:12840000-12841400	Enhancers	HSMM	muscle
11	chr7:12840000-12842200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr7:12840000-12843400	Enhancers	Fetal Intestine Large	intestine
13	chr7:12840200-12840600	Enhancers	Fetal Heart	heart
14	chr7:12840200-12840600	Enhancers	Stomach Mucosa	stomach
15	chr7:12840200-12840600	Flanking Active TSS	HSMMtube	muscle
16	chr7:12840200-12840800	Enhancers	Duodenum Mucosa	Duodenum
17	chr7:12840200-12842000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr7:12840200-12842200	Enhancers	Placenta	Placenta
19	chr7:12840200-12842600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:12840200-12842600	Enhancers	K562	blood
21	chr7:12840200-12843000	Enhancers	HMEC	breast
22	chr7:12840200-12843000	Enhancers	NHEK	skin
23	chr7:12840200-12843400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:12840400-12840600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:12840400-12840800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:12840400-12841200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr7:12840400-12842800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:12840600-12840800	Flanking Active TSS	Stomach Mucosa	stomach
29	chr7:12840600-12842200	Enhancers	HSMMtube	muscle
30	chr7:12840600-12842800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:12840800-12841000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr7:12840800-12841000	Enhancers	Esophagus	oesophagus
33	chr7:12840800-12841000	Enhancers	Right Atrium	heart
34	chr7:12840800-12841000	Enhancers	A549	lung
35	chr7:12840800-12841400	Active TSS	Stomach Mucosa	stomach
36	chr7:12840800-12842200	Enhancers	Pancreas	Pancrea
37	chr7:12841000-12841600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:12841000-12841600	Weak transcription	Esophagus	oesophagus
39	chr7:12841000-12842800	Enhancers	Hela-S3	cervix
40	chr7:12841000-12845000	Weak transcription	Right Atrium	heart
41	chr7:12841200-12841400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr7:12841200-12841800	Weak transcription	A549	lung
43	chr7:12841200-12842200	Enhancers	H9 Cell Line	embryonic stem cell
44	chr7:12841400-12842000	Weak transcription	Stomach Mucosa	stomach
45	chr7:12841400-12843600	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr7:12841600-12842200	Enhancers	Esophagus	oesophagus
47	chr7:12841600-12842400	Active TSS	Duodenum Mucosa	Duodenum
48	chr7:12841600-12842800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr7:12841800-12842000	Enhancers	Small Intestine	intestine
50	chr7:12841800-12842000	Enhancers	A549	lung

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