Variant report

Variant	nsv877791
Chromosome Location	chr3:162682825-163267267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1943)
CpG islands
(count:306)
Chromatin interactive
region (count:100)
LncRNA
region (count:73)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1943 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:163005669-163005678	K562	blood:	n/a	n/a
2	ATF1	chr3:163194056-163194256	K562	blood:	n/a	n/a
3	BATF	chr3:163262663-163262812	GM12878	blood:	n/a	chr3:163262754-163262765
4	BCL11A	chr3:163035507-163035684	GM12878	blood:	n/a	n/a
5	BCL3	chr3:163247171-163247356	K562	blood:	n/a	n/a
6	BCLAF1	chr3:163217558-163219570	K562	blood:	n/a	n/a
7	BCLAF1	chr3:163220154-163220822	K562	blood:	n/a	n/a
8	BRCA1	chr3:163239302-163239458	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr3:162774855-162774871	HepG2	liver:	n/a	n/a
10	BRCA1	chr3:162774683-162774995	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr3:163261385-163261850	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr3:162717002-162717061	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr3:163053313-163053625	K562	blood:	n/a	n/a
14	CBX3	chr3:163207943-163208459	HCT-116	colon:	n/a	n/a
15	CBX3	chr3:163024140-163024571	HCT-116	colon:	n/a	n/a
16	CBX3	chr3:163053325-163053544	K562	blood:	n/a	n/a
17	CBX3	chr3:163207996-163208446	HCT-116	colon:	n/a	n/a
18	CCNT2	chr3:163216821-163217005	K562	blood:	n/a	n/a
19	CCNT2	chr3:163113728-163113917	K562	blood:	n/a	n/a
20	CCNT2	chr3:163231805-163232070	K562	blood:	n/a	n/a
21	CEBPB	chr3:163235821-163236129	HepG2	liver:	n/a	chr3:163235982-163235993
22	CEBPB	chr3:162815287-162815558	IMR90	lung:	n/a	chr3:162815435-162815446
23	CEBPB	chr3:162932325-162932463	IMR90	lung:	n/a	n/a
24	CEBPB	chr3:163238177-163238411	HepG2	liver:	n/a	chr3:163238243-163238254
25	CEBPB	chr3:163241318-163241709	Hela-S3	cervix:	n/a	chr3:163241521-163241532
26	CEBPB	chr3:163156613-163156901	A549	lung:	n/a	n/a
27	CEBPB	chr3:162932427-162932441	A549	lung:	n/a	n/a
28	CEBPB	chr3:163261340-163262144	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr3:162695893-162696380	MCF-7	breast:	n/a	chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139
30	CEBPB	chr3:163256124-163256621	Hela-S3	cervix:	n/a	chr3:163256325-163256336
31	CEBPB	chr3:162978995-162979027	K562	blood:	n/a	n/a
32	CEBPB	chr3:162711839-162712097	IMR90	lung:	n/a	chr3:162711927-162711938
33	CEBPB	chr3:162995031-162995257	A549	lung:	n/a	chr3:162995163-162995176
34	CEBPB	chr3:162696021-162696193	K562	blood:	n/a	chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139
35	CEBPB	chr3:163156609-163156913	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr3:163263802-163263923	K562	blood:	n/a	chr3:163263862-163263875
37	CEBPB	chr3:163004712-163004916	K562	blood:	n/a	chr3:163004841-163004852 chr3:163004841-163004850 chr3:163004841-163004850 chr3:163004839-163004852 chr3:163004841-163004850 chr3:163004841-163004850 chr3:163004839-163004852 chr3:163004839-163004852 chr3:163004839-163004850
38	CEBPB	chr3:162789480-162789977	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr3:163208060-163208359	HepG2	liver:	n/a	n/a
40	CEBPB	chr3:163077613-163077856	HepG2	liver:	n/a	n/a
41	CEBPB	chr3:163256155-163256508	A549	lung:	n/a	chr3:163256325-163256336
42	CEBPB	chr3:163171743-163171956	MCF-7	breast:	n/a	n/a
43	CEBPB	chr3:162695846-162696372	A549	lung:	n/a	chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139
44	CEBPB	chr3:162929417-162929749	K562	blood:	n/a	chr3:162929588-162929605 chr3:162929590-162929601 chr3:162929560-162929571 chr3:162929562-162929573
45	CEBPB	chr3:162856075-162856324	MCF-7	breast:	n/a	n/a
46	CEBPB	chr3:163256142-163256491	HepG2	liver:	n/a	chr3:163256325-163256336
47	CEBPB	chr3:162932353-162932482	K562	blood:	n/a	n/a
48	CEBPB	chr3:162929413-162929748	A549	lung:	n/a	chr3:162929588-162929605 chr3:162929590-162929601 chr3:162929560-162929571 chr3:162929562-162929573
49	CEBPB	chr3:163238101-163238454	Hela-S3	cervix:	n/a	chr3:163238243-163238254
50	CEBPB	chr3:163238133-163238333	A549	lung:	n/a	chr3:163238243-163238254

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:162705337-162705387	NB4	blood:	n/a
2	chr3:162705337-162705387	NB4	blood:	n/a
3	chr3:162705203-162705253	GM19239	blood:	n/a
4	chr3:162705337-162705387	HCM	heart:	n/a
5	chr3:162705203-162705253	Hepatocyte	liver:	n/a
6	chr3:163021378-163021428	HCPEpiC	choroid plexus:	n/a
7	chr3:162705427-162705477	CMK	blood:	n/a
8	chr3:163216910-163216960	GM06990	blood:	n/a
9	chr3:162705203-162705253	HIPEpiC	eye:	n/a
10	chr3:162705427-162705477	MCF10A-Er-Src	breast:	n/a
11	chr3:163021378-163021428	HEK293	kidney:	embryo
12	chr3:162705427-162705477	HCT-116	colon:	n/a
13	chr3:162705203-162705253	GM06990	blood:	n/a
14	chr3:162705337-162705387	SKMC	muscle:	n/a
15	chr3:162705337-162705387	AG10803	skin:	n/a
16	chr3:163021378-163021428	AG04450	lung:	fetal
17	chr3:163216910-163216960	BJ	skin:	n/a
18	chr3:162705337-162705387	HL-60	blood:	n/a
19	chr3:163021378-163021428	HEEpiC	esophagus:	n/a
20	chr3:162705203-162705253	HAEpiC	amniotic membrane:	n/a
21	chr3:162705203-162705253	CMK	blood:	n/a
22	chr3:162705427-162705477	HAEpiC	amniotic membrane:	n/a
23	chr3:162705203-162705253	HRE	kidney:	n/a
24	chr3:162705427-162705477	HCM	heart:	n/a
25	chr3:162705337-162705387	GM12892	blood:	n/a
26	chr3:162705427-162705477	IMR90	lung:	fetal
27	chr3:163021378-163021428	HUVEC	blood vessel:	n/a
28	chr3:163216910-163216960	HepG2	liver:	n/a
29	chr3:162705203-162705253	GM12891	blood:	n/a
30	chr3:162705427-162705477	AoSMC	blood vessel:	n/a
31	chr3:163216910-163216960	A549	lung:	n/a
32	chr3:162705337-162705387	NH-A	brain:	n/a
33	chr3:162705203-162705253	MCF-7	breast:	n/a
34	chr3:162705337-162705387	H1-hESC	embryonic stem cell:	embryo
35	chr3:162705427-162705477	Caco-2	colon:	n/a
36	chr3:163216910-163216960	NT2-D1	testis:	n/a
37	chr3:163216910-163216960	GM12891	blood:	n/a
38	chr3:162705203-162705253	SKMC	muscle:	n/a
39	chr3:162705337-162705387	ProgFib	skin:	n/a
40	chr3:162705203-162705253	HRCEpiC	kidney:	n/a
41	chr3:163216910-163216960	HCF	heart:	n/a
42	chr3:162705427-162705477	HPAEpiC	pulmonary alveolar:	n/a
43	chr3:163216910-163216960	Hela-S3	cervix:	n/a
44	chr3:162705427-162705477	ProgFib	skin:	n/a
45	chr3:162705337-162705387	HRCEpiC	kidney:	n/a
46	chr3:163216910-163216960	IMR90	lung:	fetal
47	chr3:162705427-162705477	HRE	kidney:	n/a
48	chr3:163021378-163021428	SK-N-SH_RA	brain:	n/a
49	chr3:162705427-162705477	GM12892	blood:	n/a
50	chr3:162705337-162705387	MCF-7	breast:	n/a

(count:100 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:162754967..162757825-chr3:162758379..162760616,2	MCF-7	breast:
2	chr3:162730866..162732605-chr3:162732763..162734314,2	MCF-7	breast:
3	chr3:162776529..162777484-chr3:163340191..163340771,2	MCF-7	breast:
4	chr3:163216437..163219618-chr3:163219745..163223215,4	K562	blood:
5	chr3:162692633..162695202-chr3:162700914..162703834,2	MCF-7	breast:
6	chr3:163121369..163123913-chr3:163134434..163136619,2	K562	blood:
7	chr3:162821263..162822976-chr3:162826872..162828945,2	MCF-7	breast:
8	chr3:163217040..163218685-chr3:163234333..163236869,2	K562	blood:
9	chr3:163056333..163058966-chr3:163059531..163061180,3	K562	blood:
10	chr3:163230237..163233801-chr3:163239062..163243391,4	K562	blood:
11	chr3:162695238..162696118-chr5:168564460..168564967,2	MCF-7	breast:
12	chr3:162781747..162783965-chr3:162788037..162790015,2	MCF-7	breast:
13	chr3:163193734..163194832-chr3:163207697..163208413,4	MCF-7	breast:
14	chr3:163193915..163194594-chr3:163339922..163340818,3	MCF-7	breast:
15	chr3:162774415..162775478-chr3:163207241..163208645,5	MCF-7	breast:
16	chr3:163230237..163233801-chr3:163239062..163243391,4	K562	blood:
17	chr3:163208497..163210817-chr3:163211089..163213660,2	K562	blood:
18	chr3:163105916..163108059-chr3:163125965..163128652,2	K562	blood:
19	chr3:163235931..163238963-chr3:163240600..163242314,3	K562	blood:
20	chr3:163239753..163242604-chr3:163242914..163247032,4	K562	blood:
21	chr3:162692633..162695202-chr3:162700914..162703834,2	MCF-7	breast:
22	chr3:163227245..163228768-chr3:163230069..163232558,2	MCF-7	breast:
23	chr3:162755966..162757761-chr3:162760804..162762764,2	MCF-7	breast:
24	chr3:162468849..162471720-chr3:162897232..162899564,2	K562	blood:
25	chr3:163266767..163268587-chr3:163269344..163271343,2	K562	blood:
26	chr3:163105916..163108059-chr3:163125965..163128652,2	K562	blood:
27	chr20:11421691..11422663-chr3:162694553..162695419,2	MCF-7	breast:
28	chr3:163029844..163032021-chr3:163043055..163045557,2	K562	blood:
29	chr3:163056333..163058966-chr3:163059531..163061180,3	K562	blood:
30	chr3:162829065..162831690-chr3:162831998..162834078,2	MCF-7	breast:
31	chr3:163213538..163215501-chr3:163219578..163221117,2	K562	blood:
32	chr3:163011480..163014323-chr3:163020834..163023758,2	MCF-7	breast:
33	chr3:163217040..163218685-chr3:163234333..163236869,2	K562	blood:
34	chr3:162924888..162927929-chr3:162929573..162933579,3	K562	blood:
35	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:
36	chr3:163244079..163246070-chr3:163322398..163324984,2	MCF-7	breast:
37	chr3:162730866..162732605-chr3:162732763..162734314,2	MCF-7	breast:
38	chr3:163204645..163207138-chr3:163212514..163216472,3	K562	blood:
39	chr3:162965564..162967593-chr3:162971986..162973917,2	K562	blood:
40	chr3:162774415..162775478-chr3:163207241..163208645,5	MCF-7	breast:
41	chr3:163259280..163261541-chr3:163262492..163264749,2	K562	blood:
42	chr3:163230380..163232923-chr3:163236002..163238220,2	K562	blood:
43	chr3:163239753..163242604-chr3:163242914..163247032,4	K562	blood:
44	chr3:163099881..163101461-chr3:163102597..163105467,2	K562	blood:
45	chr3:163204645..163207138-chr3:163212514..163216472,3	K562	blood:
46	chr3:163121369..163123913-chr3:163134434..163136619,2	K562	blood:
47	chr3:162924888..162927929-chr3:162929573..162933579,3	K562	blood:
48	chr3:163228792..163232819-chr3:163240810..163244604,3	K562	blood:
49	chr3:163252335..163254174-chr3:163256755..163258981,2	MCF-7	breast:
50	chr3:163099881..163101461-chr3:163102597..163105467,2	K562	blood:

(count:73 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SI-4	chr3:162917366-162917542	ENSG00000241369
2	lnc-SI-4	chr3:162937889-162937975	ENSG00000241369
3	lnc-OTOL1-2	chr3:162925763-162925882	NONHSAT093026
4	lnc-SI-4	chr3:162917662-162917739	ENSG00000241369
5	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
6	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
7	lnc-SI-4	chr3:162937889-162937975	ENSG00000241369
8	lnc-SI-4	chr3:163079232-163079351	ENSG00000241369
9	lnc-SI-4	chr3:162996298-162996391	ENSG00000241369
10	lnc-SI-4	chr3:162936848-162936965	ENSG00000241369
11	lnc-SI-4	chr3:162937889-162937975	ENSG00000241369
12	lnc-SI-4	chr3:163021026-163021089	ENSG00000241369
13	lnc-OTOL1-2	chr3:162744184-162744286	NONHSAT093026
14	lnc-SI-4	chr3:162996298-162996391	ENSG00000241369
15	lnc-SI-4	chr3:162992984-162993107	ENSG00000241369
16	lnc-SI-4	chr3:162919870-162920037	ENSG00000241369
17	lnc-SI-4	chr3:162992984-162993107	ENSG00000241369
18	lnc-SI-4	chr3:163021026-163021105	ENSG00000241369
19	lnc-SI-4	chr3:162917662-162917739	ENSG00000241369
20	lnc-SI-4	chr3:162900619-162900716	ENSG00000241369
21	lnc-OTOL1-9	chr3:162833217-162833974	NONHSAT093027
22	lnc-SI-4	chr3:162937889-162937975	ENSG00000241369
23	lnc-SI-4	chr3:162921206-162921303	ENSG00000241369
24	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
25	lnc-SI-4	chr3:162917662-162917739	ENSG00000241369
26	lnc-SI-4	chr3:162917411-162917542	ENSG00000241369
27	lnc-SI-4	chr3:162917416-162917542	NONHSAT093031
28	lnc-SI-4	chr3:162992984-162993107	ENSG00000241369
29	lnc-SI-4	chr3:162921206-162921303	ENSG00000241369
30	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
31	lnc-SI-4	chr3:162905018-162905052	NONHSAT093031
32	lnc-OTOL1-2	chr3:162946486-162946540	ENSG00000241168.1
33	lnc-OTOL1-2	chr3:162946486-162946540	NONHSAT093026
34	lnc-OTOL1-3	chr3:163196490-163197153	XLOC_002898
35	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
36	lnc-SI-4	chr3:162904856-162905052	ENSG00000241369
37	lnc-OTOL1-2	chr3:162937866-162937980	NONHSAT093026
38	lnc-SI-4	chr3:162921206-162921298	NONHSAT093037
39	lnc-SI-4	chr3:163054933-163055024	ENSG00000241369
40	lnc-OTOL1-2	chr3:162937866-162937980	ENSG00000241168.1
41	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
42	lnc-SI-4	chr3:162937704-162937975	ENSG00000241369
43	lnc-OTOL1-2	chr3:162744184-162744286	ENSG00000241168.1
44	lnc-SI-4	chr3:162996298-162996391	ENSG00000241369
45	lnc-SI-4	chr3:162917365-162917542	ENSG00000241369
46	lnc-SI-4	chr3:162917363-162917542	ENSG00000241369
47	lnc-SI-4	chr3:162925431-162925545	ENSG00000241369
48	lnc-SI-4	chr3:162895689-162895889	ENSG00000241369
49	lnc-SI-4	chr3:162917363-162917542	ENSG00000241369
50	lnc-SI-4	chr3:162917662-162917719	NONHSAT093031

No data

Variant related genes	Relation type
ENSG00000244571	TF binding region
ENSG00000241168	TF binding region
ENSG00000265090	TF binding region
CT64	TF binding region
ENSG00000238398	TF binding region
ENSG00000240792	TF binding region
ENSG00000244571	CpG island
ENSG00000241168	CpG island
ENSG00000265090	CpG island
CT64	CpG island
ENSG00000238398	CpG island
ENSG00000240792	CpG island
ENSG00000243176	chromatin interactions
ENSG00000244571	chromatin interactions
ENSG00000144354	chromatin interactions
ENSG00000241369	chromatin interactions
ENSG00000265090	chromatin interactions
MEOX2	miRNA target sites

Extended variants
information (count: 7221 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:7221 , 50 per page) page: 1 2 3 4 5 6 7 ... 145

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144128649	chr3:162683805-162683806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs539498021	chr3:162683812-162683813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs10212444	chr3:162683856-162683857	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146521768	chr3:162683865-162683866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542328626	chr3:162683881-162683882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs561991799	chr3:162683895-162683896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs182576144	chr3:162683904-162683905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs140482188	chr3:162683905-162683906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs534311386	chr3:162683911-162683912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs532426124	chr3:162683919-162683920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs60422008	chr3:162683920-162683921	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559317317	chr3:162683960-162683961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs374755274	chr3:162683986-162683987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs186860021	chr3:162683988-162683989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs548271325	chr3:162683989-162683990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs191744686	chr3:162683995-162683996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs531177435	chr3:162684005-162684006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550761500	chr3:162684006-162684007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs368858431	chr3:162684012-162684013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs570840221	chr3:162684014-162684015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs539757121	chr3:162684026-162684027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs145215810	chr3:162684036-162684037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs149163921	chr3:162684050-162684051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184237089	chr3:162684058-162684059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs10212178	chr3:162684129-162684130	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375898958	chr3:162684135-162684136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs367996154	chr3:162684156-162684157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs543670143	chr3:162684198-162684199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs557177314	chr3:162684227-162684228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs577079188	chr3:162684272-162684273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs371885852	chr3:162684282-162684283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs546141295	chr3:162684291-162684292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs28898349	chr3:162684340-162684341	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs576201285	chr3:162684343-162684344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537228026	chr3:162690204-162690205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9290159	chr3:162690247-162690248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs981916	chr3:162690328-162690329	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs142547264	chr3:162690339-162690340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs981917	chr3:162690367-162690368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181218182	chr3:162690388-162690389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541545790	chr3:162690432-162690433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs981918	chr3:162690509-162690510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150262852	chr3:162690531-162690532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550736953	chr3:162690571-162690572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543902018	chr3:162690582-162690583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184330930	chr3:162690603-162690604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533469123	chr3:162690630-162690631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547227437	chr3:162690635-162690636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566775691	chr3:162690643-162690644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6797966	chr3:162690829-162690830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	21138945	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162683800-162684200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr3:162683800-162684400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr3:162690200-162692200	Enhancers	Dnd41	blood
4	chr3:162691200-162691800	Enhancers	A549	lung
5	chr3:162691800-162695400	Weak transcription	A549	lung
6	chr3:162695400-162696200	Enhancers	A549	lung
7	chr3:162702200-162702600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:162702400-162702600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:162702400-162702800	Enhancers	Aorta	Aorta
10	chr3:162702400-162702800	Active TSS	Hela-S3	cervix
11	chr3:162702400-162703000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:162702600-162702800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr3:162702600-162703200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:162703200-162704800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr3:162704800-162707800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:162710600-162710800	Enhancers	Dnd41	blood
17	chr3:162710800-162711000	Weak transcription	Dnd41	blood
18	chr3:162711000-162713600	ZNF genes & repeats	Dnd41	blood
19	chr3:162713600-162714400	Weak transcription	Dnd41	blood
20	chr3:162714400-162714800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:162714400-162715200	Enhancers	Dnd41	blood
22	chr3:162715200-162716400	Flanking Active TSS	Dnd41	blood
23	chr3:162715400-162716000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:162715400-162716200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:162715400-162716200	Enhancers	Colon Smooth Muscle	Colon
26	chr3:162715400-162716200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr3:162715600-162715800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:162715600-162716000	Active TSS	Adipose Nuclei	Adipose
29	chr3:162715600-162716000	Active TSS	Aorta	Aorta
30	chr3:162715600-162716000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr3:162715600-162716000	Active TSS	Stomach Smooth Muscle	stomach
32	chr3:162715600-162716200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:162715600-162716200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr3:162715600-162716800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:162715800-162716000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:162715800-162716600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:162715800-162716600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr3:162716000-162716200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:162716000-162716200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:162716200-162716400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:162716200-162716600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr3:162716400-162718000	Enhancers	Dnd41	blood
43	chr3:162724800-162725600	Enhancers	Dnd41	blood
44	chr3:162735400-162745200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:162735600-162736400	Enhancers	Fetal Heart	heart
46	chr3:162736600-162737400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:162741000-162765600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr3:162745200-162745600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr3:162745600-162746000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:162752200-162752800	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links