Variant report

Variant	nsv590207
Chromosome Location	chr3:46903361-46919379
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	BATF	chr3:46908306-46908463	GM12878	blood:	n/a	n/a
2	BHLHE40	chr3:46910968-46911286	K562	blood:	n/a	n/a
3	BHLHE40	chr3:46908281-46908558	GM12878	blood:	n/a	n/a
4	BHLHE40	chr3:46908311-46908663	K562	blood:	n/a	n/a
5	BHLHE40	chr3:46910992-46911290	GM12878	blood:	n/a	n/a
6	BHLHE40	chr3:46916049-46916314	GM12878	blood:	n/a	n/a
7	BRCA1	chr3:46908315-46908492	GM12878	blood:	n/a	n/a
8	CEBPB	chr3:46906680-46906931	IMR90	lung:	n/a	chr3:46906796-46906807
9	CEBPB	chr3:46916991-46917191	HepG2	liver:	n/a	n/a
10	CHD2	chr3:46910491-46910718	HepG2	liver:	n/a	chr3:46910607-46910617
11	CHD2	chr3:46908383-46908619	GM12878	blood:	n/a	n/a
12	CTCF	chr3:46908380-46908530	GM12869	blood:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
13	CTCF	chr3:46908320-46908470	HepG2	liver:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
14	CTCF	chr3:46908265-46908537	ProgFib	skin:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
15	CTCF	chr3:46908654-46908700	GM19240	blood:	n/a	n/a
16	CTCF	chr3:46908266-46908530	LNCaP	prostate:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
17	CTCF	chr3:46907860-46908010	GM12869	blood:	n/a	n/a
18	CTCF	chr3:46908664-46908721	GM12891	blood:	n/a	n/a
19	CTCF	chr3:46908340-46908490	RPTEC	kidney:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
20	CTCF	chr3:46908340-46908490	Hela-S3	cervix:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
21	CTCF	chr3:46908208-46908532	SK-N-SH_RA	brain:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
22	CTCF	chr3:46907800-46907950	GM12878	blood:	n/a	n/a
23	CTCF	chr3:46908096-46908632	MCF-7	breast:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
24	CTCF	chr3:46908251-46908565	K562	blood:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
25	CTCF	chr3:46908135-46908602	A549	lung:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
26	CTCF	chr3:46907220-46907370	GM12872	blood:	n/a	n/a
27	CTCF	chr3:46908290-46908477	SK-N-SH_RA	brain:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
28	CTCF	chr3:46908261-46908534	H1-hESC	embryonic stem cell:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
29	CTCF	chr3:46908320-46908470	HCT-116	colon:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
30	CTCF	chr3:46919340-46919490	HepG2	liver:	n/a	n/a
31	CTCF	chr3:46909000-46909150	GM12878	blood:	n/a	n/a
32	CTCF	chr3:46908079-46908154	GM10266	blood:	n/a	n/a
33	CTCF	chr3:46908340-46908490	GM12872	blood:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
34	CTCF	chr3:46908320-46908470	GM12866	blood:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
35	CTCF	chr3:46908340-46908490	HCFaa	heart:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
36	CTCF	chr3:46908340-46908490	GM12875	blood:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
37	CTCF	chr3:46908270-46908555	HUVEC	blood vessel:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
38	CTCF	chr3:46908214-46908568	A549	lung:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
39	CTCF	chr3:46908340-46908490	HEEpiC	esophagus:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
40	CTCF	chr3:46906020-46906170	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr3:46908340-46908490	GM12874	blood:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
42	CTCF	chr3:46908340-46908490	HCPEpiC	choroid plexus:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
43	CTCF	chr3:46908340-46908490	SK-N-SH_RA	brain:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
44	CTCF	chr3:46908340-46908490	GM12871	blood:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
45	CTCF	chr3:46908320-46908470	GM12875	blood:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
46	CTCF	chr3:46906071-46906130	GM10266	blood:	n/a	n/a
47	CTCF	chr3:46908340-46908490	NHEK	skin:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
48	CTCF	chr3:46908280-46908430	A549	lung:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
49	CTCF	chr3:46908340-46908490	AG10803	skin:	n/a	chr3:46908410-46908423 chr3:46908410-46908419 chr3:46908408-46908424 chr3:46908407-46908425 chr3:46908412-46908422 chr3:46908410-46908423 chr3:46908409-46908430
50	CTCF	chr3:46907680-46907830	AG09319	gingival:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46906118-46906168	HRCEpiC	kidney:	n/a
2	chr3:46918356-46918406	HCPEpiC	choroid plexus:	n/a
3	chr3:46906118-46906168	NHDF-neo	bronchial:	n/a
4	chr3:46918266-46918316	A549	lung:	n/a
5	chr3:46918356-46918406	HNPCEpiC	eye:	n/a
6	chr3:46906385-46906435	HUVEC	blood vessel:	n/a
7	chr3:46919066-46919116	IMR90	lung:	fetal
8	chr3:46919066-46919116	HMEC	breast:	n/a
9	chr3:46904643-46904693	HRCEpiC	kidney:	n/a
10	chr3:46906118-46906168	ovcar-3	ovarian:	n/a
11	chr3:46906385-46906435	IMR90	lung:	fetal
12	chr3:46919066-46919116	RPTEC	kidney:	n/a
13	chr3:46918356-46918406	PANC-1	pancreas:	n/a
14	chr3:46919066-46919116	AG09319	gingival:	n/a
15	chr3:46904643-46904693	NH-A	brain:	n/a
16	chr3:46918356-46918406	PrEC	prostate:	n/a
17	chr3:46904643-46904693	H1-hESC	embryonic stem cell:	embryo
18	chr3:46918356-46918406	NH-A	brain:	n/a
19	chr3:46906118-46906168	AG10803	skin:	n/a
20	chr3:46906118-46906168	GM12891	blood:	n/a
21	chr3:46918356-46918406	ECC-1	luminal epithelium:	n/a
22	chr3:46904643-46904693	HepG2	liver:	n/a
23	chr3:46918266-46918316	GM19239	blood:	n/a
24	chr3:46918356-46918406	ovcar-3	ovarian:	n/a
25	chr3:46906323-46906373	NT2-D1	testis:	n/a
26	chr3:46906323-46906373	HIPEpiC	eye:	n/a
27	chr3:46919066-46919116	ECC-1	luminal epithelium:	n/a
28	chr3:46919066-46919116	A549	lung:	n/a
29	chr3:46918356-46918406	SK-N-SH_RA	brain:	n/a
30	chr3:46918356-46918406	NT2-D1	testis:	n/a
31	chr3:46906118-46906168	AG04449	skin:	fetal
32	chr3:46906118-46906168	HEEpiC	esophagus:	n/a
33	chr3:46904643-46904693	AG04449	skin:	fetal
34	chr3:46918266-46918316	RPTEC	kidney:	n/a
35	chr3:46904643-46904693	AG09319	gingival:	n/a
36	chr3:46906118-46906168	GM12892	blood:	n/a
37	chr3:46918356-46918406	Jurkat	blood:	n/a
38	chr3:46919066-46919116	SAEC	small airway:	n/a
39	chr3:46904643-46904693	U87	brain:	n/a
40	chr3:46906118-46906168	MCF10A-Er-Src	breast:	n/a
41	chr3:46906323-46906373	HCM	heart:	n/a
42	chr3:46918356-46918406	IMR90	lung:	fetal
43	chr3:46919066-46919116	HCM	heart:	n/a
44	chr3:46906385-46906435	ovcar-3	ovarian:	n/a
45	chr3:46918356-46918406	HCM	heart:	n/a
46	chr3:46906323-46906373	SK-N-SH	brain:	n/a
47	chr3:46918266-46918316	HepG2	liver:	n/a
48	chr3:46918356-46918406	SK-N-SH	brain:	n/a
49	chr3:46904643-46904693	CMK	blood:	n/a
50	chr3:46906323-46906373	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:46902101..46904176-chr3:46943640..46945908,3	K562	blood:
2	chr3:46915275..46917060-chr3:46923765..46925773,2	K562	blood:
3	chr3:46907320..46909923-chr3:46919093..46921760,2	K562	blood:
4	chr3:46905861..46908182-chr3:46909321..46912349,4	K562	blood:
5	chr3:46912131..46913908-chr3:46921481..46923011,2	K562	blood:
6	chr3:46904622..46907361-chr3:46908422..46910821,2	K562	blood:
7	chr3:46908049..46912169-chr3:46912978..46916098,5	K562	blood:
8	chr3:46819637..46822469-chr3:46912934..46914923,2	K562	blood:
9	chr3:46909467..46911881-chr3:46954858..46956855,2	K562	blood:
10	chr3:46908423..46910395-chr3:46920080..46921760,2	K562	blood:
11	chr3:46888493..46890387-chr3:46908192..46909889,2	K562	blood:
12	chr3:46898224..46901202-chr3:46902129..46904254,2	K562	blood:
13	chr3:46783774..46785518-chr3:46915413..46918248,2	MCF-7	breast:
14	chr3:46907987..46908617-chr3:47365202..47365982,2	K562	blood:
15	chr3:46910116..46910779-chr3:47412321..47413311,2	K562	blood:
16	chr3:46704655..46705427-chr3:46908187..46908829,2	MCF-7	breast:
17	chr3:46907898..46909023-chr3:46936371..46937303,3	MCF-7	breast:
18	chr3:46905362..46907252-chr3:46950757..46952265,2	K562	blood:
19	chr3:46893593..46896051-chr3:46906062..46908471,2	K562	blood:
20	chr3:46907930..46908808-chr3:46950756..46951658,3	K562	blood:
21	chr3:46908943..46910828-chr3:46926732..46928602,2	K562	blood:
22	chr3:46888374..46889993-chr3:46908092..46909889,2	K562	blood:
23	chr3:46907889..46909004-chr3:46936396..46937326,9	K562	blood:
24	chr3:46911199..46912719-chr3:46917160..46918725,2	MCF-7	breast:
25	chr3:46919067..46921668-chr3:46922191..46925334,3	K562	blood:
26	chr3:46798748..46799515-chr3:46907913..46908649,2	K562	blood:
27	chr3:46911199..46912719-chr3:46917160..46918725,2	MCF-7	breast:
28	chr3:46792775..46794351-chr3:46906387..46908133,2	K562	blood:
29	chr3:46917885..46923537-chr3:46925586..46931315,6	MCF-7	breast:
30	chr3:46905861..46908182-chr3:46909321..46912349,4	K562	blood:
31	chr3:46906899..46908825-chr3:46935706..46937551,2	K562	blood:
32	chr3:46908003..46908876-chr3:47412441..47413277,3	K562	blood:
33	chr3:46908049..46912169-chr3:46912978..46916098,5	K562	blood:
34	chr3:46658701..46661042-chr3:46905477..46908148,2	MCF-7	breast:
35	chr3:46917376..46920621-chr3:46922888..46926605,5	K562	blood:
36	chr3:46907919..46909420-chr3:46936321..46937362,8	MCF-7	breast:
37	chr3:46910106..46910730-chr3:46950930..46951702,2	MCF-7	breast:
38	chr3:46899974..46902852-chr3:46912143..46913911,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTH1R-1	chr3:46914185-46914431	NONHSAT089463
2	lnc-PTH1R-1	chr3:46916657-46917160	NONHSAT089463

Variant related genes	Relation type
MYL3	TF binding region
PTH1R	TF binding region
MYL3	CpG island
PTH1R	CpG island
ENSG00000160808	chromatin interactions
ENSG00000268537	chromatin interactions
ENSG00000160801	chromatin interactions

Extended variants
information (count: 579 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3792559	chr3:46903361-46903362	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374596181	chr3:46903370-46903371	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575203342	chr3:46903380-46903381	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532520395	chr3:46903390-46903391	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547691842	chr3:46903494-46903495	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536872680	chr3:46903505-46903506	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566069872	chr3:46903522-46903523	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs3792560	chr3:46903525-46903526	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184323338	chr3:46903577-46903578	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548319474	chr3:46903592-46903593	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs3792561	chr3:46903601-46903602	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149841564	chr3:46903612-46903613	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575763200	chr3:46903649-46903650	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs555164932	chr3:46903676-46903677	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537164019	chr3:46903683-46903684	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116627021	chr3:46903699-46903700	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540953466	chr3:46903709-46903710	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577772720	chr3:46903711-46903712	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538878049	chr3:46903749-46903750	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565572692	chr3:46903751-46903752	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189312573	chr3:46903835-46903836	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572400749	chr3:46903836-46903837	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182297747	chr3:46903880-46903881	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373870966	chr3:46903885-46903886	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560739978	chr3:46903917-46903918	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185746941	chr3:46903975-46903976	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543154430	chr3:46903982-46903983	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564951393	chr3:46903986-46903987	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs34114860	chr3:46903996-46903997	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532066773	chr3:46904004-46904005	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544958004	chr3:46904026-46904027	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559498463	chr3:46904065-46904066	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368448097	chr3:46904069-46904070	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs72895218	chr3:46904099-46904100	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569971697	chr3:46904108-46904109	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537413482	chr3:46904159-46904160	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552279723	chr3:46904268-46904269	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs148553169	chr3:46904281-46904282	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs535099882	chr3:46904292-46904293	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs554046619	chr3:46904310-46904311	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs572238754	chr3:46904315-46904316	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs536574113	chr3:46904346-46904347	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs554803845	chr3:46904355-46904356	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs575956109	chr3:46904357-46904358	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs577211190	chr3:46904394-46904395	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs543443448	chr3:46904420-46904421	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs558263121	chr3:46904478-46904479	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs576557373	chr3:46904490-46904491	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs145587968	chr3:46904504-46904505	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs367969190	chr3:46904522-46904523	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46888000-46908800	Weak transcription	Esophagus	oesophagus
2	chr3:46893800-46906200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:46894200-46905200	Weak transcription	Fetal Lung	lung
4	chr3:46895000-46904400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:46897000-46908600	Weak transcription	Gastric	stomach
6	chr3:46898000-46904800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
7	chr3:46898800-46908400	Weak transcription	Liver	Liver
8	chr3:46900600-46904800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:46901000-46909000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:46901200-46904200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:46902000-46904400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:46902200-46903400	Enhancers	Lung	lung
13	chr3:46902200-46908400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:46902600-46903600	Enhancers	Pancreas	Pancrea
15	chr3:46902600-46903600	Enhancers	Psoas Muscle	Psoas
16	chr3:46902600-46903800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:46902600-46904000	Enhancers	Spleen	Spleen
18	chr3:46902800-46903400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:46902800-46903800	Enhancers	Ovary	ovary
20	chr3:46902800-46904200	Enhancers	HepG2	liver
21	chr3:46902800-46904600	Enhancers	Adipose Nuclei	Adipose
22	chr3:46902800-46904800	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr3:46902800-46907000	Enhancers	Fetal Intestine Large	intestine
24	chr3:46903000-46903400	Enhancers	K562	blood
25	chr3:46903000-46904000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr3:46903000-46906000	Active TSS	Left Ventricle	heart
27	chr3:46903000-46907200	Enhancers	Fetal Intestine Small	intestine
28	chr3:46903200-46903600	Enhancers	Fetal Muscle Leg	muscle
29	chr3:46903200-46903600	Flanking Active TSS	Right Atrium	heart
30	chr3:46903200-46905600	Active TSS	Fetal Heart	heart
31	chr3:46903200-46906200	Active TSS	Right Ventricle	heart
32	chr3:46903400-46903600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:46903400-46905400	Weak transcription	Lung	lung
34	chr3:46903600-46904200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr3:46903600-46904600	Weak transcription	Psoas Muscle	Psoas
36	chr3:46903600-46904800	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr3:46903600-46904800	Active TSS	Right Atrium	heart
38	chr3:46903600-46908200	Weak transcription	Pancreas	Pancrea
39	chr3:46903800-46904000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:46903800-46906000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:46903800-46906200	Weak transcription	Ovary	ovary
42	chr3:46903800-46906200	Enhancers	HSMMtube	muscle
43	chr3:46904000-46904200	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr3:46904000-46906200	Weak transcription	Spleen	Spleen
45	chr3:46904200-46904400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr3:46904200-46904400	Bivalent Enhancer	HepG2	liver
47	chr3:46904200-46904600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:46904200-46906000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:46904400-46905200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:46904400-46905800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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