Variant report

Variant	esv1804680
Chromosome Location	chr3:46704348-46869911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2277)
CpG islands
(count:5067)
Chromatin interactive
region (count:168)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2277 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:46755533-46755773	GM12878	blood:	n/a	n/a
2	ATF2	chr3:46746461-46746813	GM12878	blood:	n/a	n/a
3	ATF2	chr3:46755483-46755920	GM12878	blood:	n/a	n/a
4	ATF2	chr3:46759302-46759627	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr3:46792308-46792631	K562	blood:	n/a	n/a
6	ATF3	chr3:46759265-46759598	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr3:46759282-46759598	K562	blood:	n/a	n/a
8	ATF3	chr3:46759331-46759550	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr3:46792267-46792609	K562	blood:	n/a	n/a
10	BACH1	chr3:46853993-46854163	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr3:46735430-46735744	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr3:46746558-46746758	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr3:46734048-46734515	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr3:46759334-46759543	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr3:46834950-46835224	GM12878	blood:	n/a	n/a
16	BATF	chr3:46720127-46720375	GM12878	blood:	n/a	n/a
17	BATF	chr3:46755501-46755889	GM12878	blood:	n/a	n/a
18	BATF	chr3:46834909-46835249	GM12878	blood:	n/a	n/a
19	BATF	chr3:46773261-46773680	GM12878	blood:	n/a	n/a
20	BATF	chr3:46773278-46773701	GM12878	blood:	n/a	n/a
21	BATF	chr3:46755589-46755797	GM12878	blood:	n/a	n/a
22	BATF	chr3:46720130-46720422	GM12878	blood:	n/a	n/a
23	BCL11A	chr3:46755551-46755755	GM12878	blood:	n/a	chr3:46755588-46755601
24	BCL11A	chr3:46834834-46835220	GM12878	blood:	n/a	n/a
25	BCL11A	chr3:46755446-46755860	GM12878	blood:	n/a	chr3:46755588-46755601
26	BCL3	chr3:46755447-46755829	GM12878	blood:	n/a	chr3:46755588-46755601
27	BCLAF1	chr3:46759179-46759647	K562	blood:	n/a	n/a
28	BHLHE40	chr3:46792161-46792741	K562	blood:	n/a	chr3:46792470-46792479 chr3:46792470-46792479
29	BHLHE40	chr3:46736761-46737392	K562	blood:	n/a	n/a
30	BHLHE40	chr3:46734493-46734748	K562	blood:	n/a	n/a
31	BHLHE40	chr3:46755577-46755866	GM12878	blood:	n/a	n/a
32	BHLHE40	chr3:46798309-46798511	K562	blood:	n/a	n/a
33	BHLHE40	chr3:46746528-46746852	K562	blood:	n/a	n/a
34	BHLHE40	chr3:46736984-46737365	GM12878	blood:	n/a	n/a
35	BHLHE40	chr3:46759435-46759439	K562	blood:	n/a	n/a
36	BHLHE40	chr3:46734263-46734269	A549	lung:	n/a	n/a
37	BHLHE40	chr3:46735446-46735593	K562	blood:	n/a	n/a
38	BHLHE40	chr3:46773339-46773653	GM12878	blood:	n/a	n/a
39	BRCA1	chr3:46746601-46746847	H1-hESC	embryonic stem cell:	n/a	n/a
40	BRCA1	chr3:46708976-46709045	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr3:46734876-46735076	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr3:46759337-46759615	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr3:46746485-46746854	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr3:46746586-46746696	HepG2	liver:	n/a	n/a
45	BRCA1	chr3:46755567-46755723	GM12878	blood:	n/a	n/a
46	CBX3	chr3:46759289-46759662	K562	blood:	n/a	n/a
47	CBX3	chr3:46759328-46759544	K562	blood:	n/a	n/a
48	CBX3	chr3:46862333-46862734	K562	blood:	n/a	n/a
49	CBX3	chr3:46798157-46798548	K562	blood:	n/a	n/a
50	CBX3	chr3:46805384-46805615	K562	blood:	n/a	n/a

(count:5067 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46853850-46853900	SAEC	small airway:	n/a
2	chr3:46735454-46735504	GM12891	blood:	n/a
3	chr3:46720206-46720256	ProgFib	skin:	n/a
4	chr3:46791477-46791527	HPAEpiC	pulmonary alveolar:	n/a
5	chr3:46853850-46853900	SAEC	small airway:	n/a
6	chr3:46735454-46735504	GM12891	blood:	n/a
7	chr3:46720206-46720256	ProgFib	skin:	n/a
8	chr3:46791477-46791527	HPAEpiC	pulmonary alveolar:	n/a
9	chr3:46853631-46853681	Caco-2	colon:	n/a
10	chr3:46730941-46730991	GM12892	blood:	n/a
11	chr3:46733475-46733525	CMK	blood:	n/a
12	chr3:46735454-46735504	PrEC	prostate:	n/a
13	chr3:46794154-46794204	AoSMC	blood vessel:	n/a
14	chr3:46759588-46759638	RPTEC	kidney:	n/a
15	chr3:46854173-46854223	NHDF-neo	bronchial:	n/a
16	chr3:46759449-46759499	ECC-1	luminal epithelium:	n/a
17	chr3:46718941-46718991	SK-N-SH_RA	brain:	n/a
18	chr3:46735454-46735504	AoSMC	blood vessel:	n/a
19	chr3:46758813-46758863	HNPCEpiC	eye:	n/a
20	chr3:46854231-46854281	HIPEpiC	eye:	n/a
21	chr3:46759096-46759146	GM19239	blood:	n/a
22	chr3:46759656-46759706	Caco-2	colon:	n/a
23	chr3:46755916-46755966	AG10803	skin:	n/a
24	chr3:46854297-46854347	SKMC	muscle:	n/a
25	chr3:46735335-46735385	NB4	blood:	n/a
26	chr3:46735152-46735202	AG09319	gingival:	n/a
27	chr3:46768322-46768372	ProgFib	skin:	n/a
28	chr3:46786387-46786437	HRCEpiC	kidney:	n/a
29	chr3:46718979-46719029	AG04449	skin:	fetal
30	chr3:46799010-46799060	GM06990	blood:	n/a
31	chr3:46853986-46854036	AoSMC	blood vessel:	n/a
32	chr3:46741803-46741853	NHDF-neo	bronchial:	n/a
33	chr3:46775569-46775619	Hepatocyte	liver:	n/a
34	chr3:46735801-46735851	AG10803	skin:	n/a
35	chr3:46792023-46792073	GM19239	blood:	n/a
36	chr3:46747930-46747980	NHBE	bronchial:	n/a
37	chr3:46786387-46786437	AoSMC	blood vessel:	n/a
38	chr3:46796026-46796076	MCF10A-Er-Src	breast:	n/a
39	chr3:46743199-46743249	HRE	kidney:	n/a
40	chr3:46734393-46734443	ovcar-3	ovarian:	n/a
41	chr3:46730941-46730991	GM12878	blood:	n/a
42	chr3:46853631-46853681	AG09309	skin:	n/a
43	chr3:46735335-46735385	HAEpiC	amniotic membrane:	n/a
44	chr3:46759698-46759748	HCPEpiC	choroid plexus:	n/a
45	chr3:46786238-46786288	LNCaP	prostate:	n/a
46	chr3:46735315-46735365	AG09319	gingival:	n/a
47	chr3:46850588-46850638	SAEC	small airway:	n/a
48	chr3:46741492-46741542	NHDF-neo	bronchial:	n/a
49	chr3:46785957-46786007	IMR90	lung:	fetal
50	chr3:46742491-46742541	HRPEpiC	eye:	n/a

(count:168 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr3:46739910..46741419-chr3:46753549..46755761,2	MCF-7	breast:
2	chr3:46743022..46745285-chr3:46747232..46748921,2	MCF-7	breast:
3	chr3:46710631..46712822-chr3:46733923..46736915,2	MCF-7	breast:
4	chr3:46675056..46675850-chr3:46708207..46708731,2	MCF-7	breast:
5	chr3:46796598..46799185-chr3:46799676..46801957,2	MCF-7	breast:
6	chr3:46774953..46775682-chr3:46936746..46937314,2	K562	blood:
7	chr3:46722742..46724325-chr3:46733459..46735116,2	K562	blood:
8	chr3:46735218..46737600-chr3:46738787..46741218,2	K562	blood:
9	chr3:46736085..46739130-chr3:47020544..47022434,3	MCF-7	breast:
10	chr3:46720300..46721832-chr3:46725360..46727686,2	K562	blood:
11	chr3:46737124..46738860-chr3:46743430..46745835,2	K562	blood:
12	chr3:46789741..46793223-chr3:46794604..46798425,5	K562	blood:
13	chr3:46796598..46799185-chr3:46799676..46801957,2	MCF-7	breast:
14	chr3:46746166..46747117-chr3:46950364..46951554,3	MCF-7	breast:
15	chr3:46711657..46716189-chr3:46730133..46733448,4	MCF-7	breast:
16	chr3:46589952..46592593-chr3:46732036..46734467,2	K562	blood:
17	chr3:46739910..46741419-chr3:46753549..46755761,2	MCF-7	breast:
18	chr3:46789981..46792010-chr3:46794604..46797550,3	K562	blood:
19	chr3:46761792..46767256-chr3:46770894..46774909,6	K562	blood:
20	chr3:46738781..46740669-chr3:46750489..46752316,2	K562	blood:
21	chr3:46734355..46735316-chr5:133512715..133513418,2	Hela-S3	cervix:
22	chr3:46746385..46747067-chr3:47040079..47041127,4	K562	blood:
23	chr3:46745401..46748199-chr3:46947346..46950114,2	K562	blood:
24	chr3:46703608..46706840-chr3:46708905..46711367,3	K562	blood:
25	chr3:46774758..46775741-chr3:46797694..46798443,2	K562	blood:
26	chr3:46713668..46715350-chr3:46724195..46726906,2	MCF-7	breast:
27	chr3:46733801..46735413-chr3:46924430..46926212,2	MCF-7	breast:
28	chr3:46736001..46738313-chr3:46739420..46741660,3	MCF-7	breast:
29	chr3:46785802..46787615-chr3:46790135..46792444,2	K562	blood:
30	chr3:46745129..46746095-chr3:46936433..46937176,2	MCF-7	breast:
31	chr3:46735288..46735975-chr3:46746178..46746698,2	K562	blood:
32	chr3:46715976..46718963-chr3:46721062..46722912,2	MCF-7	breast:
33	chr3:46733404..46735141-chr3:46748725..46750536,2	MCF-7	breast:
34	chr3:46761792..46767256-chr3:46770894..46774909,6	K562	blood:
35	chr3:46703743..46706705-chr3:46719567..46721829,2	K562	blood:
36	chr3:46748228..46751973-chr3:46757589..46759527,3	MCF-7	breast:
37	chr3:46732167..46733968-chr3:46737534..46740232,2	MCF-7	breast:
38	chr3:46734988..46739707-chr3:46741491..46746249,8	K562	blood:
39	chr3:46776204..46778019-chr3:46778181..46780158,2	K562	blood:
40	chr3:46789981..46792010-chr3:46794604..46797550,3	K562	blood:
41	chr3:46707782..46708419-chr3:46950685..46951647,2	MCF-7	breast:
42	chr3:46789741..46793223-chr3:46794604..46798425,5	K562	blood:
43	chr3:46798748..46799515-chr3:46907913..46908649,2	K562	blood:
44	chr3:46707418..46709371-chr3:46712225..46713806,2	K562	blood:
45	chr3:46787160..46789838-chr3:46792836..46795181,2	K562	blood:
46	chr3:46708885..46711230-chr3:46720885..46722743,2	K562	blood:
47	chr3:46728002..46730865-chr3:46732714..46734493,2	K562	blood:
48	chr3:46742077..46744445-chr3:46744916..46748199,4	K562	blood:
49	chr17:43393907..43394635-chr3:46734362..46735110,2	Hela-S3	cervix:
50	chr3:46796204..46798578-chr3:46800470..46803401,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTH1R-2	chr3:46839613-46839880	NONHSAT089458
2	lnc-PRSS50-1	chr3:46853712-46854064	NONHSAT089457
3	lnc-PRSS50-1	chr3:46797532-46798119	NONHSAT089457
4	lnc-PRSS50-1	chr3:46795974-46796138	NONHSAT089457
5	lnc-PRSS42-3	chr3:46869645-46869919	NONHSAT089460

No data

Variant related genes	Relation type
ENSG00000238013	TF binding region
TMIE	TF binding region
PRSS50	TF binding region
ALS2CL	TF binding region
PRSS44	TF binding region
PRSS45	TF binding region
PRSS46	TF binding region
ENSG00000238013	CpG island
TMIE	CpG island
PRSS50	CpG island
ALS2CL	CpG island
PRSS44	CpG island
PRSS45	CpG island
PRSS46	CpG island
ENSG00000160796	chromatin interactions
ENSG00000260456	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000178038	chromatin interactions
ENSG00000229320	chromatin interactions
ENSG00000101558	chromatin interactions
ENSG00000181585	chromatin interactions
ENSG00000113558	chromatin interactions
ENSG00000188086	chromatin interactions
ENSG00000261603	chromatin interactions
ENSG00000178055	chromatin interactions
ENSG00000160801	chromatin interactions
ENSG00000270006	chromatin interactions
ENSG00000206549	chromatin interactions
ENSG00000006062	chromatin interactions
ENSG00000160799	chromatin interactions
ENSG00000264306	chromatin interactions
ENSG00000186432	chromatin interactions

Extended variants
information (count: 5011 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:5011 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76282499	chr3:46704360-46704361	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534244694	chr3:46704366-46704367	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555296997	chr3:46704369-46704370	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148161189	chr3:46704387-46704388	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189832611	chr3:46704390-46704391	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35430748	chr3:46704393-46704394	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs59181284	chr3:46704394-46704395	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544373658	chr3:46704419-46704420	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527260856	chr3:46704441-46704442	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532376045	chr3:46704442-46704443	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551061050	chr3:46704454-46704455	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575326356	chr3:46704464-46704465	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs137955474	chr3:46704486-46704487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564292700	chr3:46704508-46704509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528345878	chr3:46704527-46704528	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182397204	chr3:46704569-46704570	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs561516890	chr3:46704612-46704613	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528928541	chr3:46704620-46704621	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376802113	chr3:46704630-46704631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs7640749	chr3:46704670-46704671	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369485886	chr3:46704710-46704711	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs75664981	chr3:46704727-46704728	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374939981	chr3:46704729-46704730	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs34541318	chr3:46704760-46704761	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149534122	chr3:46704768-46704769	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs17079114	chr3:46704769-46704770	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73079565	chr3:46704822-46704823	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187121838	chr3:46704838-46704839	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs79869668	chr3:46704841-46704842	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371043027	chr3:46704901-46704902	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs77465136	chr3:46704949-46704950	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538282530	chr3:46705014-46705015	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556295127	chr3:46705020-46705021	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs114797727	chr3:46705035-46705036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545542179	chr3:46705149-46705150	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs144101721	chr3:46705170-46705171	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573109185	chr3:46705174-46705175	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549227687	chr3:46705190-46705191	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs79830266	chr3:46705249-46705250	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562062588	chr3:46705269-46705270	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528873195	chr3:46705279-46705280	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs377755249	chr3:46705308-46705309	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs4682826	chr3:46705369-46705370	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs77717432	chr3:46705381-46705382	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192137814	chr3:46705406-46705407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs551076055	chr3:46705421-46705422	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs138761656	chr3:46705428-46705429	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs183961181	chr3:46705431-46705432	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs373824469	chr3:46705486-46705487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs188467361	chr3:46705487-46705488	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Recurrent pregnancy loss	19789632	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2373 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46698000-46707600	Weak transcription	Gastric	stomach
2	chr3:46700400-46704800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:46700400-46705400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:46700400-46705800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:46700400-46705800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:46700600-46705000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:46700600-46705000	Enhancers	HMEC	breast
8	chr3:46700600-46705400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:46700600-46705600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:46700800-46705400	Enhancers	Placenta	Placenta
11	chr3:46700800-46710400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr3:46701000-46704400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr3:46701000-46704600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:46701000-46705000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:46701200-46705400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:46701400-46705200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:46701600-46706800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:46701600-46709200	Enhancers	Right Ventricle	heart
19	chr3:46702000-46704400	Bivalent Enhancer	Fetal Stomach	stomach
20	chr3:46702400-46706000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr3:46702600-46704400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:46702800-46704800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:46702800-46707200	Weak transcription	Pancreas	Pancrea
24	chr3:46702800-46732400	Weak transcription	Psoas Muscle	Psoas
25	chr3:46703000-46705400	Weak transcription	Lung	lung
26	chr3:46703000-46705600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr3:46703000-46705800	Enhancers	Fetal Muscle Leg	muscle
28	chr3:46703000-46711600	Weak transcription	Esophagus	oesophagus
29	chr3:46703000-46731600	Weak transcription	Hela-S3	cervix
30	chr3:46703400-46704600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:46703400-46705600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:46703400-46706000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:46703400-46706000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:46703400-46707200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr3:46703400-46709400	Enhancers	Left Ventricle	heart
36	chr3:46703600-46704400	Enhancers	HSMMtube	muscle
37	chr3:46703600-46705600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:46703600-46706200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:46703800-46704400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:46703800-46705200	Enhancers	Fetal Brain Female	brain
41	chr3:46703800-46705400	Enhancers	Brain Cingulate Gyrus	brain
42	chr3:46703800-46705400	Enhancers	Brain Hippocampus Middle	brain
43	chr3:46703800-46705400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr3:46703800-46706000	Enhancers	Brain Angular Gyrus	brain
45	chr3:46703800-46706200	Enhancers	Fetal Brain Male	brain
46	chr3:46703800-46709200	Enhancers	Right Atrium	heart
47	chr3:46704000-46704400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr3:46704000-46704600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
49	chr3:46704000-46704600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:46704000-46704600	Enhancers	Fetal Kidney	kidney

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