Variant report

Variant	nsv979856
Chromosome Location	chr3:93629188-93641803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:93629003-93629273	HepG2	liver:	n/a	chr3:93629160-93629171 chr3:93629159-93629172 chr3:93629159-93629170
2	CEBPB	chr3:93628924-93629461	Hela-S3	cervix:	n/a	chr3:93629160-93629171 chr3:93628939-93628950 chr3:93629159-93629172 chr3:93629159-93629170
3	CEBPB	chr3:93629053-93629308	K562	blood:	n/a	chr3:93629160-93629171 chr3:93629159-93629172 chr3:93629159-93629170
4	CTCF	chr3:93637617-93637662	Pancreas_OC	pancreas:	n/a	n/a
5	EP300	chr3:93629053-93629261	Hela-S3	cervix:	n/a	chr3:93629157-93629171
6	FOS	chr3:93628950-93629247	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr3:93629067-93629232	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr3:93637969-93638147	MCF10A-Er-Src	breast:	n/a	n/a
9	MAFF	chr3:93634995-93635231	HepG2	liver:	n/a	n/a
10	MAFK	chr3:93635053-93635168	HepG2	liver:	n/a	n/a
11	MAFK	chr3:93635044-93635224	HepG2	liver:	n/a	n/a
12	NFYB	chr3:93636923-93637124	K562	blood:	n/a	n/a
13	POLR2A	chr3:93636998-93637130	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr3:93636661-93636764	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr3:93633010-93633018	K562	blood:	n/a	n/a
16	SRF	chr3:93631172-93631310	HepG2	liver:	n/a	chr3:93631237-93631255
17	SRF	chr3:93631106-93631304	K562	blood:	n/a	chr3:93631237-93631255
18	STAT3	chr3:93628966-93629189	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr3:93629136-93629336	MCF10A-Er-Src	breast:	n/a	chr3:93629272-93629280
20	TCF7L2	chr3:93629006-93629447	Hela-S3	cervix:	n/a	chr3:93629350-93629366 chr3:93629354-93629363

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STX19-1	chr3:93629463-93630001	NONHSAT090718

Variant related genes	Relation type
PROS1	TF binding region

Extended variants
information (count: 436 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553126174	chr3:93629207-93629208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148573562	chr3:93629255-93629256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551439634	chr3:93629275-93629276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182127066	chr3:93629276-93629277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113837531	chr3:93629294-93629295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564908342	chr3:93629299-93629300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566969137	chr3:93629371-93629372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575540206	chr3:93629384-93629385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544167424	chr3:93629426-93629427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201089893	chr3:93629479-93629480	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs372589167	chr3:93629495-93629496	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs375363379	chr3:93629510-93629511	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs142805170	chr3:93629516-93629517	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs144526169	chr3:93629525-93629526	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs200093789	chr3:93629529-93629530	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs199469486	chr3:93629537-93629538	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs200886866	chr3:93629540-93629541	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs373193429	chr3:93629556-93629557	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs201876381	chr3:93629569-93629570	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs187888861	chr3:93629595-93629596	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs372327393	chr3:93629611-93629612	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs73145870	chr3:93629638-93629639	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538179711	chr3:93629664-93629665	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs138351265	chr3:93629710-93629711	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs190950438	chr3:93629735-93629736	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs548604139	chr3:93629762-93629763	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs8178623	chr3:93629784-93629785	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs571578876	chr3:93629823-93629824	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs536268452	chr3:93629835-93629836	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs367785081	chr3:93629909-93629910	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs552987426	chr3:93629916-93629917	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs573000794	chr3:93629958-93629959	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs538732095	chr3:93630042-93630043	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs558755387	chr3:93630070-93630071	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs114422294	chr3:93630117-93630118	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs544344591	chr3:93630120-93630121	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs561044749	chr3:93630123-93630124	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183141839	chr3:93630183-93630184	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540261676	chr3:93630197-93630198	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs76444006	chr3:93630243-93630244	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs80004154	chr3:93630305-93630306	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs193026601	chr3:93630375-93630376	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs371943193	chr3:93630398-93630399	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs149601729	chr3:93630402-93630403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562954763	chr3:93630437-93630438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531833726	chr3:93630446-93630447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184926102	chr3:93630480-93630481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568803484	chr3:93630491-93630492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76169322	chr3:93630510-93630511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527967122	chr3:93630512-93630513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93594600-93632800	Weak transcription	HepG2	liver
2	chr3:93597400-93629200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr3:93610400-93636600	Weak transcription	Right Ventricle	heart
4	chr3:93611200-93650400	Weak transcription	Left Ventricle	heart
5	chr3:93624200-93630000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:93624400-93638600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:93626000-93634000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:93626200-93636200	Weak transcription	Aorta	Aorta
9	chr3:93626400-93631600	Weak transcription	Lung	lung
10	chr3:93626400-93647600	Weak transcription	Ovary	ovary
11	chr3:93626600-93631000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:93626600-93631400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:93626800-93632800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:93628400-93630000	Enhancers	Fetal Lung	lung
15	chr3:93628600-93629200	Weak transcription	Liver	Liver
16	chr3:93628800-93629600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:93629000-93629200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr3:93629000-93629600	Enhancers	Hela-S3	cervix
19	chr3:93629200-93629400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr3:93629200-93629800	Enhancers	Rectal Smooth Muscle	rectum
21	chr3:93629200-93630000	Enhancers	Liver	Liver
22	chr3:93629200-93630000	Enhancers	Colon Smooth Muscle	Colon
23	chr3:93630000-93630400	Flanking Active TSS	Fetal Lung	lung
24	chr3:93630000-93631000	Weak transcription	Liver	Liver
25	chr3:93630400-93630800	Enhancers	Fetal Lung	lung
26	chr3:93631000-93631400	ZNF genes & repeats	Liver	Liver
27	chr3:93631000-93631800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr3:93631400-93632400	Strong transcription	Liver	Liver
29	chr3:93631400-93633000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:93631800-93632200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:93632200-93635200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:93632400-93632800	Weak transcription	Liver	Liver
33	chr3:93632800-93633200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:93632800-93633200	Enhancers	HepG2	liver
35	chr3:93632800-93633400	Enhancers	Liver	Liver
36	chr3:93633000-93636400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:93633200-93650800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:93633200-93653200	Weak transcription	HepG2	liver
39	chr3:93633400-93634400	Weak transcription	Liver	Liver
40	chr3:93634400-93638200	Strong transcription	Liver	Liver
41	chr3:93635000-93636600	Weak transcription	Lung	lung
42	chr3:93635200-93653600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:93636000-93636200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr3:93636200-93637000	Strong transcription	Aorta	Aorta
45	chr3:93636400-93638000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:93636600-93636800	ZNF genes & repeats	Lung	lung
47	chr3:93636800-93645200	Weak transcription	Fetal Intestine Small	intestine
48	chr3:93636800-93646000	Weak transcription	Lung	lung
49	chr3:93637000-93650600	Weak transcription	Aorta	Aorta
50	chr3:93637800-93638000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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