Variant report

Variant	nsv606236
Chromosome Location	chr7:12791487-12846898
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:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:12839996..12842956-chr7:12845077..12847690,3	K562	blood:
2	chr7:12752598..12755770-chr7:12846803..12850536,3	K562	blood:
3	chr7:12842993..12845876-chr7:12849067..12850592,2	K562	blood:
4	chr7:12802710..12805631-chr7:12843539..12845086,2	K562	blood:
5	chr7:12726249..12728170-chr7:12818425..12821332,2	MCF-7	breast:
6	chr7:12839996..12842956-chr7:12845077..12847690,3	K562	blood:
7	chr7:12844977..12847724-chr7:12851734..12854680,3	K562	blood:
8	chr7:12800803..12802500-chr7:12804614..12806992,2	K562	blood:
9	chr7:12802710..12805631-chr7:12843539..12845086,2	K562	blood:
10	chr7:12753064..12757665-chr7:12839772..12843667,5	K562	blood:
11	chr7:12729413..12731637-chr7:12843330..12845682,3	K562	blood:
12	chr7:12800803..12802500-chr7:12804614..12806992,2	K562	blood:
13	chr7:12829364..12832120-chr7:12840009..12842222,2	MCF-7	breast:
14	chr7:12728919..12730458-chr7:12808880..12810657,2	K562	blood:
15	chr7:12818300..12820351-chr7:12841940..12843743,2	K562	blood:
16	chr7:12727781..12730322-chr7:12817926..12821146,3	K562	blood:
17	chr7:12727055..12727630-chr7:12845268..12846026,2	NB4	blood:
18	chr7:12796602..12799104-chr7:12801716..12803667,2	K562	blood:
19	chr7:12835963..12838649-chr7:12840426..12842028,2	K562	blood:
20	chr7:12725441..12727985-chr7:12838036..12839832,3	K562	blood:
21	chr7:12839807..12841884-chr7:12848614..12851118,2	K562	blood:
22	chr7:12805050..12807862-chr7:12810613..12813616,3	K562	blood:
23	chr7:12750130..12753883-chr7:12807710..12810536,3	K562	blood:
24	chr7:12796602..12799104-chr7:12801716..12803667,2	K562	blood:
25	chr7:12835963..12838649-chr7:12840426..12842028,2	K562	blood:
26	chr7:12788056..12789598-chr7:12795283..12797093,2	K562	blood:
27	chr7:12726182..12729102-chr7:12805599..12808937,3	K562	blood:
28	chr7:12805050..12807862-chr7:12810613..12813616,3	K562	blood:
29	chr7:12795575..12798544-chr7:12800834..12803658,2	K562	blood:
30	chr7:12807281..12809251-chr7:12830118..12832463,2	K562	blood:
31	chr7:12775054..12776662-chr7:12793532..12795288,2	K562	blood:
32	chr7:12725074..12728787-chr7:12804273..12807099,3	K562	blood:
33	chr7:12752071..12754735-chr7:12837199..12839155,2	K562	blood:
34	chr7:12795575..12798544-chr7:12800834..12803658,2	K562	blood:
35	chr7:12816193..12818807-chr7:12819189..12821870,3	K562	blood:
36	chr7:12789976..12792361-chr7:12795351..12797605,3	K562	blood:
37	chr7:12829364..12832120-chr7:12840009..12842222,2	MCF-7	breast:
38	chr7:12724986..12727818-chr7:12816142..12817868,2	K562	blood:
39	chr7:12766596..12768749-chr7:12802172..12804632,2	K562	blood:
40	chr7:12775054..12776736-chr7:12793008..12795288,3	K562	blood:
41	chr7:12728794..12731512-chr7:12834236..12836117,2	K562	blood:
42	chr7:12816193..12818807-chr7:12819189..12821870,3	K562	blood:
43	chr7:12769404..12771505-chr7:12844117..12845724,2	K562	blood:
44	chr7:12724655..12726648-chr7:12829219..12832148,2	K562	blood:
45	chr7:12807281..12809251-chr7:12830118..12832463,2	K562	blood:
46	chr7:12724034..12732109-chr7:12833312..12840531,10	K562	blood:
47	chr7:12818300..12820351-chr7:12841940..12843743,2	K562	blood:
48	chr7:12790147..12794301-chr7:12795351..12799069,6	K562	blood:
49	chr7:12730450..12733246-chr7:12819730..12821436,2	K562	blood:
50	chr7:12727600..12730322-chr7:12818288..12819861,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions
ENSG00000271253	chromatin interactions

Extended variants
information (count: 2482 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2482 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs849734	chr7:12791487-12791488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148314352	chr7:12791490-12791491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563101160	chr7:12791549-12791550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560042052	chr7:12791556-12791557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531830078	chr7:12791616-12791617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116012955	chr7:12791622-12791623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112888489	chr7:12791624-12791625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184415158	chr7:12791649-12791650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71536899	chr7:12791663-12791664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73306355	chr7:12791683-12791684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565220533	chr7:12791684-12791685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141422649	chr7:12791749-12791750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145623301	chr7:12791768-12791769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75141504	chr7:12791771-12791772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7796407	chr7:12791854-12791855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555597488	chr7:12791903-12791904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565842838	chr7:12791950-12791951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138150648	chr7:12791956-12791957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202226176	chr7:12791978-12791979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529070633	chr7:12791980-12791981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554240127	chr7:12791996-12791997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527489949	chr7:12792024-12792025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546288846	chr7:12792045-12792046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142649400	chr7:12792061-12792062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116111692	chr7:12792094-12792095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542061015	chr7:12792110-12792111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146012185	chr7:12792114-12792115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528017152	chr7:12792147-12792148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540609684	chr7:12792211-12792212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547275809	chr7:12792213-12792214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11447926	chr7:12792214-12792215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397768510	chr7:12792227-12792228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563768885	chr7:12792228-12792229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2078541	chr7:12792248-12792249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117371634	chr7:12792253-12792254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569424005	chr7:12792266-12792267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548181405	chr7:12792374-12792375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188761312	chr7:12792376-12792377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551476241	chr7:12792383-12792384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567277643	chr7:12792437-12792438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548955564	chr7:12792488-12792489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571625993	chr7:12792532-12792533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565947073	chr7:12792550-12792551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79465375	chr7:12792609-12792610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144501956	chr7:12792618-12792619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570822799	chr7:12792675-12792676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539850424	chr7:12792690-12792691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370420079	chr7:12792700-12792701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181233343	chr7:12792748-12792749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148420868	chr7:12792779-12792780	Weak transcription	n/a	n/a	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	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12788400-12793200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:12790000-12796200	Weak transcription	Hela-S3	cervix
3	chr7:12790200-12797800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:12791000-12791600	Enhancers	HepG2	liver
5	chr7:12793200-12794200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:12793400-12794200	Enhancers	A549	lung
7	chr7:12793600-12794400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:12793600-12794400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:12793800-12794200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:12793800-12794200	Enhancers	NH-A	brain
11	chr7:12793800-12794200	Enhancers	Osteobl	bone
12	chr7:12793800-12794400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:12794000-12794200	Enhancers	Esophagus	oesophagus
14	chr7:12794000-12794400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr7:12794200-12796200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:12794200-12796200	Weak transcription	A549	lung
17	chr7:12794200-12796400	Weak transcription	NH-A	brain
18	chr7:12794200-12796400	Weak transcription	Osteobl	bone
19	chr7:12794200-12797600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:12794400-12796200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:12794400-12796200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:12794400-12796400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:12796200-12796600	Enhancers	HSMM	muscle
24	chr7:12796200-12797200	Enhancers	Hela-S3	cervix
25	chr7:12796200-12797400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:12796200-12797600	Enhancers	A549	lung
27	chr7:12796200-12797600	Enhancers	NHLF	lung
28	chr7:12796200-12798000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:12796200-12798000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:12796400-12797000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:12796400-12797200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:12796400-12797200	Enhancers	HMEC	breast
33	chr7:12796400-12797200	Enhancers	NH-A	brain
34	chr7:12796400-12797400	Enhancers	NHEK	skin
35	chr7:12796400-12797600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:12796400-12798000	Enhancers	Osteobl	bone
37	chr7:12796600-12797400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:12796600-12798000	Enhancers	NHDF-Ad	bronchial
39	chr7:12796600-12804200	Weak transcription	HSMM	muscle
40	chr7:12797000-12797200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:12797000-12798000	Enhancers	Adipose Nuclei	Adipose
42	chr7:12797000-12798200	Enhancers	HSMMtube	muscle
43	chr7:12797200-12797400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:12797200-12797600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:12797200-12808800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:12797400-12797600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:12797400-12797600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr7:12797400-12797800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:12797400-12799400	Weak transcription	NHEK	skin
50	chr7:12797600-12797800	Enhancers	Muscle Satellite Cultured Cells	--

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