Variant report

Variant	nsv963348
Chromosome Location	chr3:101424441-101434477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:188)
CpG islands
(count:183)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:188 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:101426291-101426432	K562	blood:	n/a	n/a
2	ARID3A	chr3:101426237-101426447	HepG2	liver:	n/a	n/a
3	CEBPB	chr3:101426107-101426454	IMR90	lung:	n/a	chr3:101426383-101426391 chr3:101426285-101426296
4	CEBPB	chr3:101426232-101426430	H1-hESC	embryonic stem cell:	n/a	chr3:101426383-101426391 chr3:101426285-101426296
5	CEBPB	chr3:101426104-101426427	HepG2	liver:	n/a	chr3:101426383-101426391 chr3:101426285-101426296
6	CEBPB	chr3:101426124-101426456	A549	lung:	n/a	chr3:101426383-101426391 chr3:101426285-101426296
7	CEBPB	chr3:101426213-101426436	K562	blood:	n/a	chr3:101426383-101426391 chr3:101426285-101426296
8	CEBPB	chr3:101426179-101426469	Hela-S3	cervix:	n/a	chr3:101426383-101426391 chr3:101426285-101426296
9	CHD2	chr3:101426251-101426490	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr3:101426284-101426440	HepG2	liver:	n/a	n/a
11	CTCF	chr3:101426260-101426410	HVMF	connective:	n/a	n/a
12	CTCF	chr3:101426240-101426390	AG09309	skin:	n/a	n/a
13	CTCF	chr3:101426620-101426770	NHDF-neo	bronchial:	n/a	n/a
14	CTCF	chr3:101426274-101426498	LNCaP	prostate:	n/a	n/a
15	CTCF	chr3:101426291-101426473	LNCaP	prostate:	n/a	n/a
16	CTCF	chr3:101426160-101426310	GM12871	blood:	n/a	n/a
17	CTCF	chr3:101426240-101426390	SAEC	small airway:	n/a	n/a
18	CTCF	chr3:101426280-101426512	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr3:101426460-101426610	NHEK	skin:	n/a	n/a
20	CTCF	chr3:101426260-101426410	AG04449	skin:	n/a	n/a
21	CTCF	chr3:101426560-101426710	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr3:101425466-101425554	ProgFib	skin:	n/a	n/a
23	CTCF	chr3:101426198-101426563	K562	blood:	n/a	n/a
24	CTCF	chr3:101426240-101426390	HRE	kidney:	n/a	n/a
25	CTCF	chr3:101426340-101426490	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr3:101426260-101426410	AG09319	gingival:	n/a	n/a
27	CTCF	chr3:101426260-101426410	HMF	breast:	n/a	n/a
28	CTCF	chr3:101426260-101426410	AG09309	skin:	n/a	n/a
29	CTCF	chr3:101426300-101426450	NHLF	lung:	n/a	n/a
30	CTCF	chr3:101426245-101426509	A549	lung:	n/a	n/a
31	CTCF	chr3:101426260-101426410	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr3:101426280-101426430	HCM	heart:	n/a	n/a
33	CTCF	chr3:101426197-101426429	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr3:101426280-101426430	RPTEC	kidney:	n/a	n/a
35	CTCF	chr3:101426300-101426450	GM12872	blood:	n/a	n/a
36	CTCF	chr3:101426260-101426410	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr3:101426260-101426410	HMEC	breast:	n/a	n/a
38	CTCF	chr3:101426260-101426410	GM12874	blood:	n/a	n/a
39	CTCF	chr3:101426260-101426410	GM06990	blood:	n/a	n/a
40	CTCF	chr3:101426191-101426251	GM19238	blood:	n/a	n/a
41	CTCF	chr3:101426186-101426204	GM12891	blood:	n/a	n/a
42	CTCF	chr3:101426260-101426410	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr3:101426480-101426630	GM12866	blood:	n/a	n/a
44	CTCF	chr3:101426440-101426590	GM12872	blood:	n/a	n/a
45	CTCF	chr3:101426100-101426250	GM12874	blood:	n/a	n/a
46	CTCF	chr3:101426240-101426390	GM12872	blood:	n/a	n/a
47	CTCF	chr3:101426260-101426410	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr3:101426280-101426430	GM12868	blood:	n/a	n/a
49	CTCF	chr3:101426260-101426410	AG10803	skin:	n/a	n/a
50	CTCF	chr3:101426260-101426410	HPF	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:101431192-101431242	HRCEpiC	kidney:	n/a
2	chr3:101430248-101430298	HPAEpiC	pulmonary alveolar:	n/a
3	chr3:101431499-101431549	AG04450	lung:	fetal
4	chr3:101431499-101431549	Caco-2	colon:	n/a
5	chr3:101431192-101431242	ECC-1	luminal epithelium:	n/a
6	chr3:101431499-101431549	RPTEC	kidney:	n/a
7	chr3:101431499-101431549	HMEC	breast:	n/a
8	chr3:101430248-101430298	HIPEpiC	eye:	n/a
9	chr3:101430248-101430298	HepG2	liver:	n/a
10	chr3:101430248-101430298	GM12891	blood:	n/a
11	chr3:101431499-101431549	U87	brain:	n/a
12	chr3:101430248-101430298	SK-N-SH_RA	brain:	n/a
13	chr3:101430248-101430298	PFSK-1	brain:	n/a
14	chr3:101430248-101430298	HAEpiC	amniotic membrane:	n/a
15	chr3:101431192-101431242	HAEpiC	amniotic membrane:	n/a
16	chr3:101430248-101430298	AG09309	skin:	n/a
17	chr3:101430248-101430298	HMEC	breast:	n/a
18	chr3:101431499-101431549	MCF10A-Er-Src	breast:	n/a
19	chr3:101431499-101431549	IMR90	lung:	fetal
20	chr3:101430248-101430298	Hela-S3	cervix:	n/a
21	chr3:101430248-101430298	HL-60	blood:	n/a
22	chr3:101431499-101431549	HNPCEpiC	eye:	n/a
23	chr3:101431192-101431242	LNCaP	prostate:	n/a
24	chr3:101431192-101431242	GM12891	blood:	n/a
25	chr3:101430248-101430298	Hepatocyte	liver:	n/a
26	chr3:101430248-101430298	H1-hESC	embryonic stem cell:	embryo
27	chr3:101430248-101430298	HUVEC	blood vessel:	n/a
28	chr3:101431192-101431242	GM19239	blood:	n/a
29	chr3:101430248-101430298	RPTEC	kidney:	n/a
30	chr3:101431499-101431549	GM12878	blood:	n/a
31	chr3:101431499-101431549	HRPEpiC	eye:	n/a
32	chr3:101431499-101431549	HL-60	blood:	n/a
33	chr3:101430248-101430298	K562	blood:	n/a
34	chr3:101431499-101431549	PrEC	prostate:	n/a
35	chr3:101431499-101431549	HRE	kidney:	n/a
36	chr3:101430248-101430298	AG04450	lung:	fetal
37	chr3:101431499-101431549	HCPEpiC	choroid plexus:	n/a
38	chr3:101430248-101430298	AG04449	skin:	fetal
39	chr3:101431499-101431549	Hepatocyte	liver:	n/a
40	chr3:101431499-101431549	AG04449	skin:	fetal
41	chr3:101430248-101430298	HEEpiC	esophagus:	n/a
42	chr3:101431499-101431549	GM06990	blood:	n/a
43	chr3:101431192-101431242	HCT-116	colon:	n/a
44	chr3:101431499-101431549	SAEC	small airway:	n/a
45	chr3:101431192-101431242	HRPEpiC	eye:	n/a
46	chr3:101430248-101430298	U87	brain:	n/a
47	chr3:101431499-101431549	HCM	heart:	n/a
48	chr3:101430248-101430298	ProgFib	skin:	n/a
49	chr3:101431192-101431242	RPTEC	kidney:	n/a
50	chr3:101431192-101431242	HCPEpiC	choroid plexus:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:101403372..101405986-chr3:101428672..101430397,2	K562	blood:
2	chr3:101414723..101417089-chr3:101422376..101424511,2	K562	blood:
3	chr3:101433036..101435710-chr3:101439006..101441325,2	K562	blood:
4	chr3:101427839..101430980-chr3:101433636..101436230,3	MCF-7	breast:
5	chr3:101414483..101415094-chr3:101425834..101426412,2	MCF-7	breast:
6	chr3:101404286..101407235-chr3:101422427..101426148,3	MCF-7	breast:
7	chr3:101427839..101430980-chr3:101433636..101436230,3	MCF-7	breast:
8	chr3:101291696..101294315-chr3:101429379..101432021,3	K562	blood:
9	chr3:101394523..101397494-chr3:101425757..101427498,2	K562	blood:
10	chr3:101421106..101423870-chr3:101432907..101435601,2	K562	blood:
11	chr3:101427912..101430802-chr3:101434415..101437131,2	K562	blood:
12	chr3:101430835..101432466-chr3:101441587..101443315,2	K562	blood:
13	chr3:101427912..101430802-chr3:101434415..101437131,2	K562	blood:

No data

Variant related genes	Relation type
PDCL3P4	TF binding region
PDCL3P4	CpG island
ENSG00000081154	chromatin interactions
ENSG00000256628	chromatin interactions
ENSG00000066422	chromatin interactions
ENSG00000114391	chromatin interactions
ENSG00000182504	chromatin interactions

Extended variants
information (count: 272 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11919389	chr3:101424458-101424459	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149316337	chr3:101424530-101424531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs35077947	chr3:101424600-101424601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562206146	chr3:101424606-101424607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186494435	chr3:101424624-101424625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550610234	chr3:101424673-101424674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146278336	chr3:101424747-101424748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533282467	chr3:101424763-101424764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551549125	chr3:101424764-101424765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190940146	chr3:101424791-101424792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs13059470	chr3:101424800-101424801	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs80118405	chr3:101424810-101424811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76747093	chr3:101424813-101424814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182336917	chr3:101424815-101424816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368539129	chr3:101424842-101424843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575277802	chr3:101424845-101424846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545906567	chr3:101424865-101424866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186688427	chr3:101424884-101424885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573395762	chr3:101424915-101424916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs36064737	chr3:101424917-101424918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs397783568	chr3:101424929-101424930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs117469696	chr3:101424930-101424931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139447146	chr3:101424943-101424944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552067664	chr3:101425024-101425025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192314075	chr3:101425057-101425058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529573449	chr3:101425058-101425059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374166633	chr3:101425148-101425149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544485730	chr3:101425149-101425150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562556065	chr3:101425172-101425173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533127548	chr3:101425268-101425269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553076327	chr3:101425282-101425283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566499570	chr3:101425292-101425293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144191067	chr3:101425302-101425303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111651875	chr3:101425329-101425330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs146561074	chr3:101425363-101425364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527775471	chr3:101425410-101425411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183361476	chr3:101425412-101425413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568239100	chr3:101425469-101425470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535765392	chr3:101425512-101425513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114512526	chr3:101425515-101425516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568874436	chr3:101425629-101425630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112172168	chr3:101425640-101425641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535467772	chr3:101425657-101425658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs55654108	chr3:101425703-101425704	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs116145075	chr3:101425728-101425729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377494343	chr3:101425733-101425734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540303805	chr3:101425736-101425737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555572121	chr3:101425750-101425751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs113337658	chr3:101425791-101425792	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs567800745	chr3:101425795-101425796	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101406600-101426400	Weak transcription	Fetal Intestine Small	intestine
2	chr3:101422400-101426000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:101422400-101427200	Weak transcription	Osteobl	bone
4	chr3:101422400-101427400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:101422600-101426200	Weak transcription	A549	lung
6	chr3:101422800-101430200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:101423800-101430000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:101423800-101430600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:101424000-101426000	Weak transcription	Placenta	Placenta
10	chr3:101426000-101426400	Enhancers	Placenta	Placenta
11	chr3:101426000-101426600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:101426200-101426600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:101426200-101426600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:101426200-101426600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:101426200-101426600	Active TSS	A549	lung
16	chr3:101426400-101426600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:101426400-101426600	Enhancers	Fetal Intestine Large	intestine
18	chr3:101426400-101426600	Enhancers	Fetal Intestine Small	intestine
19	chr3:101426400-101426600	Enhancers	Fetal Lung	lung
20	chr3:101426400-101426600	Enhancers	NHDF-Ad	bronchial
21	chr3:101426600-101426800	Flanking Active TSS	A549	lung
22	chr3:101426600-101427600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:101426800-101427800	Weak transcription	Fetal Lung	lung
24	chr3:101427200-101428000	Enhancers	Osteobl	bone
25	chr3:101427400-101427600	Enhancers	NHDF-Ad	bronchial
26	chr3:101427400-101427800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:101427800-101428400	Enhancers	Fetal Lung	lung
28	chr3:101430000-101430800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr3:101430200-101432000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr3:101430600-101431000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
31	chr3:101432000-101432200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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