Variant report

Variant	esv1831289
Chromosome Location	chr3:20191506-20617984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2671)
CpG islands
(count:1711)
Chromatin interactive
region (count:173)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:14)

(count:2671 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:20227329-20228186	K562	blood:	n/a	n/a
2	ARID3A	chr3:20366598-20367214	K562	blood:	n/a	n/a
3	ARID3A	chr3:20361861-20362463	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:20371522-20371864	K562	blood:	n/a	n/a
5	ARID3A	chr3:20227487-20228388	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:20267278-20267600	K562	blood:	n/a	n/a
7	ARID3A	chr3:20382933-20383181	HepG2	liver:	n/a	n/a
8	ARID3A	chr3:20381827-20382195	K562	blood:	n/a	n/a
9	ARID3A	chr3:20364750-20365312	K562	blood:	n/a	n/a
10	ARID3A	chr3:20553373-20553610	HepG2	liver:	n/a	n/a
11	ARID3A	chr3:20368591-20368761	K562	blood:	n/a	n/a
12	ARID3A	chr3:20394102-20394581	K562	blood:	n/a	n/a
13	ARID3A	chr3:20363620-20364094	K562	blood:	n/a	chr3:20363734-20363750
14	ARID3A	chr3:20378141-20378394	K562	blood:	n/a	n/a
15	ARID3A	chr3:20362800-20363279	K562	blood:	n/a	n/a
16	ATF1	chr3:20346503-20346616	K562	blood:	n/a	n/a
17	ATF1	chr3:20226994-20228147	K562	blood:	n/a	n/a
18	ATF1	chr3:20521702-20521870	K562	blood:	n/a	n/a
19	ATF1	chr3:20364790-20365451	K562	blood:	n/a	n/a
20	ATF1	chr3:20366606-20366910	K562	blood:	n/a	n/a
21	ATF2	chr3:20288074-20288600	GM12878	blood:	n/a	n/a
22	ATF2	chr3:20288131-20288515	GM12878	blood:	n/a	n/a
23	ATF2	chr3:20227207-20228211	GM12878	blood:	n/a	n/a
24	ATF2	chr3:20385829-20386232	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr3:20227637-20228238	GM12878	blood:	n/a	n/a
26	ATF3	chr3:20227425-20228037	HepG2	liver:	n/a	n/a
27	ATF3	chr3:20394287-20394634	K562	blood:	n/a	n/a
28	ATF3	chr3:20227575-20227873	GM12878	blood:	n/a	n/a
29	ATF3	chr3:20227505-20227918	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF3	chr3:20227605-20227903	HepG2	liver:	n/a	n/a
31	ATF3	chr3:20227535-20227966	K562	blood:	n/a	n/a
32	ATF3	chr3:20227585-20227975	K562	blood:	n/a	n/a
33	ATF3	chr3:20227448-20228043	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF3	chr3:20227527-20228058	GM12878	blood:	n/a	n/a
35	BACH1	chr3:20394395-20394609	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr3:20492146-20492486	K562	blood:	n/a	n/a
37	BACH1	chr3:20535546-20535645	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr3:20536253-20536368	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr3:20394371-20394578	K562	blood:	n/a	n/a
40	BACH1	chr3:20363669-20363903	K562	blood:	n/a	n/a
41	BACH1	chr3:20381913-20382270	K562	blood:	n/a	n/a
42	BACH1	chr3:20366536-20366578	K562	blood:	n/a	n/a
43	BACH1	chr3:20578833-20579051	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr3:20492139-20492474	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr3:20616608-20616882	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr3:20197358-20197428	K562	blood:	n/a	n/a
47	BATF	chr3:20288183-20288438	GM12878	blood:	n/a	chr3:20288290-20288301
48	BATF	chr3:20277379-20277647	GM12878	blood:	n/a	n/a
49	BATF	chr3:20288158-20288422	GM12878	blood:	n/a	chr3:20288290-20288301
50	BATF	chr3:20416798-20417091	GM12878	blood:	n/a	n/a

(count:1711 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20227940-20227990	HMEC	breast:	n/a
2	chr3:20227801-20227851	GM12892	blood:	n/a
3	chr3:20195067-20195117	HL-60	blood:	n/a
4	chr3:20227940-20227990	HMEC	breast:	n/a
5	chr3:20227801-20227851	GM12892	blood:	n/a
6	chr3:20195067-20195117	HL-60	blood:	n/a
7	chr3:20227670-20227720	SK-N-SH_RA	brain:	n/a
8	chr3:20227809-20227859	SK-N-SH	brain:	n/a
9	chr3:20589671-20589721	PrEC	prostate:	n/a
10	chr3:20589760-20589810	SK-N-SH_RA	brain:	n/a
11	chr3:20418856-20418906	Jurkat	blood:	n/a
12	chr3:20522301-20522351	BE2_C	brain:	n/a
13	chr3:20412342-20412392	U87	brain:	n/a
14	chr3:20589760-20589810	ovcar-3	ovarian:	n/a
15	chr3:20231061-20231111	K562	blood:	n/a
16	chr3:20227397-20227447	HNPCEpiC	eye:	n/a
17	chr3:20227940-20227990	AG09319	gingival:	n/a
18	chr3:20321584-20321634	HCF	heart:	n/a
19	chr3:20589760-20589810	K562	blood:	n/a
20	chr3:20227663-20227713	H1-hESC	embryonic stem cell:	embryo
21	chr3:20223923-20223973	HCM	heart:	n/a
22	chr3:20575513-20575563	NT2-D1	testis:	n/a
23	chr3:20227670-20227720	AoSMC	blood vessel:	n/a
24	chr3:20227822-20227872	SK-N-SH	brain:	n/a
25	chr3:20226964-20227014	IMR90	lung:	fetal
26	chr3:20418856-20418906	AG04449	skin:	fetal
27	chr3:20227940-20227990	PANC-1	pancreas:	n/a
28	chr3:20228976-20229026	BJ	skin:	n/a
29	chr3:20227940-20227990	GM19239	blood:	n/a
30	chr3:20228976-20229026	CMK	blood:	n/a
31	chr3:20227516-20227566	GM12878	blood:	n/a
32	chr3:20223923-20223973	MCF10A-Er-Src	breast:	n/a
33	chr3:20227789-20227839	SK-N-SH	brain:	n/a
34	chr3:20589760-20589810	HNPCEpiC	eye:	n/a
35	chr3:20227516-20227566	GM12891	blood:	n/a
36	chr3:20321584-20321634	ECC-1	luminal epithelium:	n/a
37	chr3:20412342-20412392	GM12892	blood:	n/a
38	chr3:20223923-20223973	SK-N-SH_RA	brain:	n/a
39	chr3:20227670-20227720	GM19239	blood:	n/a
40	chr3:20575513-20575563	H1-hESC	embryonic stem cell:	embryo
41	chr3:20227670-20227720	HCF	heart:	n/a
42	chr3:20227809-20227859	HAEpiC	amniotic membrane:	n/a
43	chr3:20227397-20227447	ProgFib	skin:	n/a
44	chr3:20227801-20227851	Hepatocyte	liver:	n/a
45	chr3:20227059-20227109	A549	lung:	n/a
46	chr3:20448283-20448333	HCPEpiC	choroid plexus:	n/a
47	chr3:20227670-20227720	A549	lung:	n/a
48	chr3:20227940-20227990	HCM	heart:	n/a
49	chr3:20227801-20227851	AG10803	skin:	n/a
50	chr3:20589671-20589721	U87	brain:	n/a

(count:173 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr3:20553366..20553898-chr3:21257700..21258348,2	MCF-7	breast:
2	chr3:20451777..20453884-chr3:20476566..20478123,2	K562	blood:
3	chr3:20545213..20547317-chr3:20547570..20549760,2	K562	blood:
4	chr3:20447764..20450202-chr3:20450641..20452829,2	MCF-7	breast:
5	chr3:20447764..20450202-chr3:20450641..20452829,2	MCF-7	breast:
6	chr3:20215671..20219222-chr3:20225067..20228168,4	MCF-7	breast:
7	chr3:20079693..20081472-chr3:20203928..20206383,2	K562	blood:
8	chr3:20514130..20516158-chr3:20517415..20519398,2	K562	blood:
9	chr3:20227937..20230614-chr3:20238703..20240365,2	K562	blood:
10	chr3:20200366..20203372-chr3:20209857..20212107,3	K562	blood:
11	chr3:20231614..20234175-chr3:20236441..20238488,2	K562	blood:
12	chr3:20191414..20193219-chr3:20194880..20197331,2	K562	blood:
13	chr3:20216479..20218064-chr3:20218704..20221260,2	K562	blood:
14	chr3:20558136..20559640-chr3:20560230..20563085,2	K562	blood:
15	chr3:20215671..20219222-chr3:20225067..20228168,4	MCF-7	breast:
16	chr3:20358467..20362257-chr3:20366935..20370675,4	K562	blood:
17	chr3:20231614..20234175-chr3:20236441..20238488,2	K562	blood:
18	chr3:20197127..20199080-chr3:20208900..20210840,2	MCF-7	breast:
19	chr3:20195965..20199003-chr3:20200424..20204373,5	K562	blood:
20	chr17:57920861..57923845-chr3:20581102..20583235,2	MCF-7	breast:
21	chr3:20369262..20370826-chr3:20371574..20373222,2	K562	blood:
22	chr3:20384572..20387306-chr3:20389164..20391622,2	K562	blood:
23	chr3:20378280..20380658-chr3:21571258..21574044,2	K562	blood:
24	chr3:20364762..20367629-chr3:20378813..20381206,2	K562	blood:
25	chr1:167582674..167583549-chr3:20205708..20206218,2	MCF-7	breast:
26	chr3:20358467..20362257-chr3:20366935..20370675,4	K562	blood:
27	chr3:20255206..20257186-chr3:20272224..20273896,2	K562	blood:
28	chr3:20239141..20242093-chr3:20243237..20245367,3	K562	blood:
29	chr3:20460438..20462411-chr3:20516734..20518648,2	MCF-7	breast:
30	chr3:20226448..20228980-chr3:20231144..20234755,4	MCF-7	breast:
31	chr3:20079527..20082964-chr3:20226742..20229620,4	K562	blood:
32	chr3:19987980..19990853-chr3:20225710..20227616,2	MCF-7	breast:
33	chr3:20320265..20323041-chr3:20324824..20326695,2	K562	blood:
34	chr3:20212661..20217850-chr3:20224065..20229766,9	K562	blood:
35	chr3:20333199..20337962-chr3:20339317..20343120,4	K562	blood:
36	chr3:19986817..19988952-chr3:20217097..20219211,2	K562	blood:
37	chr3:20320265..20323041-chr3:20324824..20326695,2	K562	blood:
38	chr3:20248922..20251335-chr3:20323167..20325698,2	K562	blood:
39	chr3:20344022..20346742-chr3:20354498..20357355,2	K562	blood:
40	chr3:20413525..20416049-chr3:20420124..20421856,2	K562	blood:
41	chr3:20558136..20559640-chr3:20560230..20563085,2	K562	blood:
42	chr3:20188319..20191715-chr3:20218902..20221810,3	K562	blood:
43	chr3:20514130..20516158-chr3:20517415..20519398,2	K562	blood:
44	chr3:20381671..20382483-chr3:21592493..21593315,3	MCF-7	breast:
45	chr3:20381610..20382290-chr3:22159023..22159894,2	MCF-7	breast:
46	chr3:20451777..20453884-chr3:20476566..20478123,2	K562	blood:
47	chr3:20206092..20207782-chr3:20216460..20218892,2	K562	blood:
48	chr3:20195965..20199003-chr3:20200424..20204373,5	K562	blood:
49	chr3:20228018..20229588-chr3:20240700..20242261,2	K562	blood:
50	chr3:20197127..20199080-chr3:20208900..20210840,2	MCF-7	breast:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-5	chr3:20210846-20210905	l_2328_chr3:20202875-20210905_testes
2	lnc-KAT2B-2	chr3:20389489-20389501	XLOC_002595
3	lnc-PP2D1-2	chr3:20212535-20212759	NONHSAT088614
4	lnc-KAT2B-1	chr3:20218709-20218742	ENSG00000237485.1
5	lnc-KAT2B-1	chr3:20227467-20227607	ENSG00000237485.1
6	lnc-KAT2B-6	chr3:20286533-20287951	NONHSAT088619
7	lnc-PP2D1-2	chr3:20211553-20212307	NONHSAT088614
8	lnc-KAT2B-2	chr3:20387152-20387274	XLOC_002595
9	lnc-KAT2B-2	chr3:20387156-20387558	NONHSAT088622
10	lnc-KAT2B-5	chr3:20202876-20203154	l_2328_chr3:20202875-20210905_testes
11	lnc-KAT2B-1	chr3:20215736-20216017	ENSG00000237485.1
12	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
13	lnc-KAT2B-1	chr3:20215778-20216017	ENSG00000237485.1
14	lnc-KAT2B-2	chr3:20392207-20392420	XLOC_002595
15	lnc-KAT2B-3	chr3:20429741-20432054	ENSG00000261734.1
16	lnc-KAT2B-2	chr3:20389489-20389581	XLOC_002595
17	lnc-KAT2B-2	chr3:20387517-20387558	XLOC_002595
18	lnc-KAT2B-2	chr3:20387157-20387558	XLOC_002595
19	lnc-KAT2B-1	chr3:20227726-20230848	NONHSAT088617
20	lnc-KAT2B-2	chr3:20383960-20385528	XLOC_002595
21	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
22	lnc-KAT2B-1	chr3:20227467-20227919	ENSG00000237485.1
23	lnc-KAT2B-2	chr3:20389488-20389501	NONHSAT088622

No data

(count:14 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KAT2B	hsa-miR-92a-3p	chr3:20195750-20195772
2	KAT2B	hsa-miR-32-5p	chr3:20195765-20195772
3	KAT2B	hsa-miR-106b-5p	chr3:20194123-20194144
4	KAT2B	hsa-miR-106b-5p	chr3:20194137-20194143
5	KAT2B	hsa-miR-25-3p	chr3:20195765-20195772
6	KAT2B	hsa-miR-93-5p	chr3:20194121-20194144
7	KAT2B	hsa-miR-32-5p	chr3:20195750-20195772
8	KAT2B	hsa-miR-25-3p	chr3:20195750-20195772
9	KAT2B	hsa-miR-93-5p	chr3:20194137-20194143
10	KAT2B	hsa-miR-181a-5p	chr3:20194367-20194390
11	KAT2B	hsa-miR-93-5p	chr3:20195701-20195723
12	KAT2B	hsa-miR-106b-5p	chr3:20195703-20195723
13	KAT2B	hsa-miR-181b-5p	chr3:20194367-20194390
14	KAT2B	hsa-miR-92a-3p	chr3:20195765-20195772

Variant related genes	Relation type
ENSG00000261734	TF binding region
RNU6-815P	TF binding region
RNU6-822P	TF binding region
ENSG00000231304	TF binding region
RNY4P22	TF binding region
SGOL1-AS1	TF binding region
SGOL1	TF binding region
ENSG00000261734	CpG island
RNU6-815P	CpG island
RNU6-822P	CpG island
ENSG00000231304	CpG island
RNY4P22	CpG island
SGOL1-AS1	CpG island
SGOL1	CpG island
ENSG00000206807	chromatin interactions
ENSG00000117625	chromatin interactions
ENSG00000144566	chromatin interactions
ENSG00000214013	chromatin interactions
ENSG00000229468	chromatin interactions
ENSG00000103978	chromatin interactions
ENSG00000266745	chromatin interactions
ENSG00000237485	chromatin interactions
ENSG00000163576	chromatin interactions
ENSG00000129810	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000252442	chromatin interactions
ENSG00000158158	chromatin interactions
ENSG00000114166	chromatin interactions
ENSG00000126226	chromatin interactions
ENSG00000234779	chromatin interactions

Extended variants
information (count: 12965 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:12965 , 50 per page) page: 1 2 3 4 5 6 7 ... 260

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs977162	chr3:20191506-20191507	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs180900871	chr3:20191561-20191562	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543511676	chr3:20191570-20191571	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186328694	chr3:20191580-20191581	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190254249	chr3:20191621-20191622	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141705214	chr3:20191676-20191677	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548884594	chr3:20191696-20191697	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150539065	chr3:20191702-20191703	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531434797	chr3:20191729-20191730	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181486183	chr3:20191734-20191735	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs59374480	chr3:20191747-20191748	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538646381	chr3:20191775-20191776	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554094561	chr3:20191827-20191828	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534173254	chr3:20191835-20191836	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566101763	chr3:20191841-20191842	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375170013	chr3:20191888-20191889	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536914113	chr3:20191897-20191898	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555336756	chr3:20191969-20191970	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs3828352	chr3:20191973-20191974	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537698793	chr3:20191981-20191982	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs3804570	chr3:20192055-20192056	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577629031	chr3:20192073-20192074	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544782242	chr3:20192093-20192094	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560063656	chr3:20192143-20192144	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2661376	chr3:20192146-20192147	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542495720	chr3:20192212-20192213	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560874071	chr3:20192239-20192240	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531399849	chr3:20192250-20192251	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549988442	chr3:20192251-20192252	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564941019	chr3:20192258-20192259	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs3840191	chr3:20192304-20192305	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs78923857	chr3:20192376-20192377	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs72571860	chr3:20192381-20192382	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs397707625	chr3:20192382-20192383	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532610826	chr3:20192411-20192412	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs199599035	chr3:20192464-20192465	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369812859	chr3:20192497-20192498	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547591339	chr3:20192507-20192508	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566064698	chr3:20192536-20192537	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528244267	chr3:20192548-20192549	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs2068477	chr3:20192578-20192579	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs570406228	chr3:20192589-20192590	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs78456400	chr3:20192653-20192654	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77606263	chr3:20192659-20192660	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs3804572	chr3:20192686-20192687	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs538691872	chr3:20192693-20192694	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2068668	chr3:20192701-20192702	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138419307	chr3:20192719-20192720	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs17678713	chr3:20192769-20192770	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs3804573	chr3:20192790-20192791	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
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
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1731 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
2	chr3:20141200-20222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:20147600-20194200	Weak transcription	Dnd41	blood
4	chr3:20151000-20196800	Weak transcription	Stomach Mucosa	stomach
5	chr3:20159200-20201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:20162800-20198200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:20164400-20204400	Weak transcription	Small Intestine	intestine
8	chr3:20164800-20211400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:20167800-20196600	Weak transcription	K562	blood
10	chr3:20167800-20226000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:20168800-20200800	Weak transcription	GM12878-XiMat	blood
12	chr3:20169600-20198400	Weak transcription	Aorta	Aorta
13	chr3:20169600-20198400	Weak transcription	Pancreas	Pancrea
14	chr3:20169800-20201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:20169800-20202000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:20175800-20196800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr3:20177800-20195200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr3:20178200-20195200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:20178400-20191800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:20179000-20196400	Weak transcription	HUVEC	blood vessel
21	chr3:20179400-20197600	Weak transcription	Right Atrium	heart
22	chr3:20181400-20195600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr3:20181800-20200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:20182400-20195200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr3:20182400-20196400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:20182600-20201400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:20182800-20198000	Weak transcription	Ovary	ovary
28	chr3:20183200-20192800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:20183600-20201000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr3:20183800-20193000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:20183800-20196000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:20183800-20196000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:20183800-20196400	Weak transcription	Fetal Intestine Small	intestine
34	chr3:20183800-20196800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:20183800-20198000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:20183800-20198400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:20183800-20199600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:20183800-20199600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:20184000-20196400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:20184000-20198000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:20184200-20196400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:20184400-20196000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:20184400-20197800	Weak transcription	Lung	lung
44	chr3:20184400-20198000	Weak transcription	Right Ventricle	heart
45	chr3:20184400-20198400	Weak transcription	Spleen	Spleen
46	chr3:20184400-20198600	Weak transcription	Brain Hippocampus Middle	brain
47	chr3:20184400-20199000	Weak transcription	Esophagus	oesophagus
48	chr3:20184600-20220200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:20184800-20196400	Weak transcription	Gastric	stomach
50	chr3:20186400-20195600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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