Variant report

Variant	nsv877226
Chromosome Location	chr3:101681481-101803052
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:25)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:101566618..101569449-chr3:101702453..101706119,4	MCF-7	breast:
2	chr3:101567030..101569894-chr3:101796236..101798456,2	MCF-7	breast:
3	chr3:101566496..101570131-chr3:101796646..101801936,6	MCF-7	breast:
4	chr3:101403438..101405529-chr3:101791185..101793301,2	MCF-7	breast:
5	chr3:101683624..101685727-chr3:101697646..101699483,2	MCF-7	breast:
6	chr3:101711972..101714062-chr3:101716715..101719526,2	MCF-7	breast:
7	chr3:101738065..101740879-chr3:101940382..101942538,2	MCF-7	breast:
8	chr3:101568351..101575418-chr3:101783867..101789752,8	MCF-7	breast:
9	chr3:101567314..101569899-chr3:101785470..101789586,5	MCF-7	breast:
10	chr3:101568745..101570435-chr3:101718037..101719941,2	K562	blood:
11	chr3:101568439..101570055-chr3:101775716..101777929,2	MCF-7	breast:
12	chr3:101567143..101570277-chr3:101699918..101703715,6	MCF-7	breast:
13	chr3:101704688..101706460-chr3:101721589..101723644,2	MCF-7	breast:
14	chr3:101716217..101718460-chr3:101885237..101888035,2	MCF-7	breast:
15	chr3:101711972..101714062-chr3:101716715..101719526,2	MCF-7	breast:
16	chr3:101704688..101706460-chr3:101721589..101723644,2	MCF-7	breast:
17	chr3:101785585..101786403-chr3:101832243..101832752,2	MCF-7	breast:
18	chr3:101580490..101582879-chr3:101701319..101703649,2	MCF-7	breast:
19	chr3:101567124..101569055-chr3:101716434..101718714,2	MCF-7	breast:
20	chr3:101771910..101774318-chr3:101781232..101782867,2	MCF-7	breast:
21	chr3:101683624..101685727-chr3:101697646..101699483,2	MCF-7	breast:
22	chr3:101681933..101682716-chr3:122473612..122474290,2	MCF-7	breast:
23	chr3:101567740..101569625-chr3:101802548..101804995,2	MCF-7	breast:
24	chr3:101771910..101774318-chr3:101781232..101782867,2	MCF-7	breast:
25	chr3:101799272..101801541-chr3:101941767..101943953,3	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NFKBIZ-1	chr3:101715325-101716770	XLOC_002741
2	lnc-NFKBIZ-1	chr3:101715325-101716770	XLOC_002741
3	lnc-ZPLD1-3	chr3:101771495-101771570	NONHSAT090924
4	lnc-NFKBIZ-1	chr3:101713405-101713741	XLOC_002741
5	lnc-NFKBIZ-1	chr3:101715325-101715376	XLOC_002741
6	lnc-ZPLD1-3	chr3:101782506-101782794	NONHSAT090924
7	lnc-NFKBIZ-1	chr3:101715325-101715502	XLOC_002741
8	lnc-NFKBIZ-1	chr3:101713658-101713741	XLOC_002741
9	lnc-NFKBIZ-1	chr3:101713405-101713741	XLOC_002741
10	lnc-NFKBIZ-1	chr3:101713405-101713512	XLOC_002741

No data

Variant related genes	Relation type
ENSG00000144802	chromatin interactions
ENSG00000114391	chromatin interactions
ANKS1B	miRNA target sites
NXN	miRNA target sites

Extended variants
information (count: 4696 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:4696 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7626110	chr3:101681481-101681482	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76286176	chr3:101681486-101681487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541838526	chr3:101681493-101681494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539877132	chr3:101681537-101681538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572630468	chr3:101681562-101681563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74944242	chr3:101681595-101681596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555020022	chr3:101681650-101681651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576478023	chr3:101681652-101681653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79532574	chr3:101681663-101681664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554873443	chr3:101681709-101681710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576224729	chr3:101681717-101681718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565222921	chr3:101681867-101681868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115497037	chr3:101681870-101681871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374448918	chr3:101681902-101681903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544853346	chr3:101681944-101681945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560428535	chr3:101681955-101681956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149488852	chr3:101682015-101682016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558871254	chr3:101682017-101682018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79836071	chr3:101682024-101682025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187878554	chr3:101682031-101682032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143969097	chr3:101682078-101682079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138814981	chr3:101682209-101682210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534806898	chr3:101682333-101682334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571255291	chr3:101682372-101682373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1849467	chr3:101682415-101682416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs367710127	chr3:101682550-101682551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547659826	chr3:101682564-101682565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62280858	chr3:101682574-101682575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147430791	chr3:101682579-101682580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76321545	chr3:101682585-101682586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139771525	chr3:101682592-101682593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112703038	chr3:101682613-101682614	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs368600274	chr3:101682624-101682625	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs150619271	chr3:101682666-101682667	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs545420141	chr3:101682899-101682900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529720861	chr3:101682918-101682919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368914892	chr3:101682919-101682920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547849003	chr3:101682937-101682938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577251403	chr3:101682954-101682955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368161395	chr3:101682990-101682991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139707140	chr3:101683073-101683074	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs560108607	chr3:101683124-101683125	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs570343279	chr3:101683183-101683184	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs571860875	chr3:101683211-101683212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1709356	chr3:101683231-101683232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542520518	chr3:101683247-101683248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149794210	chr3:101683382-101683383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531255518	chr3:101683445-101683446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549492212	chr3:101683469-101683470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559612924	chr3:101683473-101683474	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:740 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101670400-101682600	Weak transcription	HSMM	muscle
2	chr3:101680400-101681600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:101681000-101681800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:101681000-101681800	Enhancers	NH-A	brain
5	chr3:101681200-101682600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:101681200-101684200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:101681400-101681600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:101681400-101681600	Enhancers	NHDF-Ad	bronchial
9	chr3:101681400-101682000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:101681400-101682400	Weak transcription	NHEK	skin
11	chr3:101681400-101682400	Weak transcription	Osteobl	bone
12	chr3:101681400-101682600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:101681400-101682800	Weak transcription	HSMMtube	muscle
14	chr3:101681600-101682200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:101681600-101682200	Weak transcription	NHDF-Ad	bronchial
16	chr3:101681600-101682800	Weak transcription	NHLF	lung
17	chr3:101681600-101683000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:101681800-101682200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:101681800-101682800	Weak transcription	NH-A	brain
20	chr3:101682000-101684200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:101682200-101683600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:101682200-101684000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:101682200-101684000	Enhancers	NHDF-Ad	bronchial
24	chr3:101682200-101684800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr3:101682400-101683400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr3:101682400-101683800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:101682400-101683800	Enhancers	Osteobl	bone
28	chr3:101682400-101684000	Enhancers	HMEC	breast
29	chr3:101682400-101684200	Enhancers	NHEK	skin
30	chr3:101682600-101682800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr3:101682600-101683400	Enhancers	HSMM	muscle
32	chr3:101682600-101683400	Enhancers	HUVEC	blood vessel
33	chr3:101682600-101683600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:101682600-101683600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:101682600-101683600	Enhancers	Hela-S3	cervix
36	chr3:101682600-101683800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:101682600-101684000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:101682600-101685800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr3:101682800-101683000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr3:101682800-101683200	Enhancers	HSMMtube	muscle
41	chr3:101682800-101683600	Enhancers	NH-A	brain
42	chr3:101682800-101683800	Enhancers	NHLF	lung
43	chr3:101683000-101683200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr3:101683000-101683400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:101683000-101684000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:101683200-101684400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr3:101683800-101684000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr3:101684000-101684800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:101684000-101685000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:101684000-101685400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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