Variant report

Variant	nsv4040
Chromosome Location	chr3:142649146-142675752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:451)
CpG islands
(count:366)
Chromatin interactive
region (count:49)
LncRNA
region (count:44)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:142658412-142659769	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:142648738-142649374	K562	blood:	n/a	n/a
3	ARID3A	chr3:142660146-142661242	HepG2	liver:	n/a	n/a
4	ATF2	chr3:142659366-142659755	GM12878	blood:	n/a	n/a
5	BHLHE40	chr3:142671667-142671932	K562	blood:	n/a	n/a
6	CBX3	chr3:142664190-142664562	K562	blood:	n/a	n/a
7	CBX3	chr3:142653670-142654114	K562	blood:	n/a	n/a
8	CBX3	chr3:142653757-142654054	K562	blood:	n/a	n/a
9	CEBPB	chr3:142653054-142653282	H1-hESC	embryonic stem cell:	n/a	chr3:142653163-142653174
10	CEBPB	chr3:142652981-142653356	K562	blood:	n/a	chr3:142653163-142653174
11	CEBPB	chr3:142653037-142653322	Hela-S3	cervix:	n/a	chr3:142653163-142653174
12	CEBPB	chr3:142660476-142660984	HepG2	liver:	n/a	chr3:142660861-142660872
13	CEBPB	chr3:142649508-142649529	A549	lung:	n/a	n/a
14	CEBPB	chr3:142660452-142661021	HepG2	liver:	n/a	chr3:142660861-142660872
15	CEBPB	chr3:142662845-142663071	HepG2	liver:	n/a	chr3:142662973-142662984
16	CEBPB	chr3:142652998-142653347	IMR90	lung:	n/a	chr3:142653163-142653174
17	CEBPB	chr3:142648637-142649229	K562	blood:	n/a	n/a
18	CEBPB	chr3:142675201-142675451	HepG2	liver:	n/a	n/a
19	CEBPB	chr3:142660364-142660979	HepG2	liver:	n/a	chr3:142660861-142660872
20	CEBPB	chr3:142662857-142663057	K562	blood:	n/a	chr3:142662973-142662984
21	CEBPB	chr3:142652990-142653349	A549	lung:	n/a	chr3:142653163-142653174
22	CEBPB	chr3:142652987-142653342	HepG2	liver:	n/a	chr3:142653163-142653174
23	CEBPB	chr3:142660447-142661061	HepG2	liver:	n/a	chr3:142660861-142660872
24	CEBPB	chr3:142662902-142663037	IMR90	lung:	n/a	chr3:142662973-142662984
25	CEBPB	chr3:142660818-142660896	K562	blood:	n/a	chr3:142660861-142660872
26	CEBPB	chr3:142648631-142649189	K562	blood:	n/a	n/a
27	CEBPB	chr3:142662863-142663086	A549	lung:	n/a	chr3:142662973-142662984
28	CEBPD	chr3:142660471-142660877	HepG2	liver:	n/a	n/a
29	CEBPD	chr3:142648730-142649159	K562	blood:	n/a	n/a
30	CEBPD	chr3:142660421-142660939	HepG2	liver:	n/a	n/a
31	CEBPD	chr3:142648636-142649184	K562	blood:	n/a	n/a
32	CHD2	chr3:142660607-142660919	HepG2	liver:	n/a	n/a
33	CREB1	chr3:142648556-142649190	K562	blood:	n/a	n/a
34	CREB1	chr3:142660298-142661139	HepG2	liver:	n/a	n/a
35	CTCF	chr3:142649960-142650110	RPTEC	kidney:	n/a	n/a
36	CTCF	chr3:142650215-142650405	HepG2	liver:	n/a	n/a
37	CTCF	chr3:142650191-142650392	ProgFib	skin:	n/a	n/a
38	CTCF	chr3:142649480-142649630	NHDF-neo	bronchial:	n/a	chr3:142649593-142649611 chr3:142649588-142649609 chr3:142649595-142649608 chr3:142649594-142649610
39	CTCF	chr3:142649860-142650010	GM12864	blood:	n/a	n/a
40	CTCF	chr3:142650200-142650350	GM12866	blood:	n/a	n/a
41	CTCF	chr3:142650260-142650410	NHEK	skin:	n/a	n/a
42	CTCF	chr3:142650549-142650582	GM10248	blood:	n/a	n/a
43	CTCF	chr3:142650180-142650330	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr3:142650200-142650350	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr3:142650200-142650350	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr3:142650200-142650350	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr3:142649380-142649530	A549	lung:	n/a	n/a
48	CTCF	chr3:142649480-142649630	Caco-2	colon:	n/a	chr3:142649593-142649611 chr3:142649588-142649609 chr3:142649595-142649608 chr3:142649594-142649610
49	CTCF	chr3:142650196-142650407	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr3:142650220-142650370	AG09319	gingival:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142666759-142666809	AG09319	gingival:	n/a
2	chr3:142666476-142666526	K562	blood:	n/a
3	chr3:142666108-142666158	SK-N-SH_RA	brain:	n/a
4	chr3:142666108-142666158	BJ	skin:	n/a
5	chr3:142666759-142666809	AoSMC	blood vessel:	n/a
6	chr3:142666108-142666158	NB4	blood:	n/a
7	chr3:142666759-142666809	HMEC	breast:	n/a
8	chr3:142666320-142666370	SK-N-SH_RA	brain:	n/a
9	chr3:142666759-142666809	BE2_C	brain:	n/a
10	chr3:142666108-142666158	AG10803	skin:	n/a
11	chr3:142666108-142666158	HMEC	breast:	n/a
12	chr3:142666320-142666370	GM12878	blood:	n/a
13	chr3:142666108-142666158	HAEpiC	amniotic membrane:	n/a
14	chr3:142666476-142666526	AG09319	gingival:	n/a
15	chr3:142666476-142666526	RPTEC	kidney:	n/a
16	chr3:142666293-142666343	GM19239	blood:	n/a
17	chr3:142666108-142666158	HepG2	liver:	n/a
18	chr3:142666476-142666526	NHBE	bronchial:	n/a
19	chr3:142663294-142663344	A549	lung:	n/a
20	chr3:142666320-142666370	HNPCEpiC	eye:	n/a
21	chr3:142666108-142666158	Jurkat	blood:	n/a
22	chr3:142663294-142663344	Hela-S3	cervix:	n/a
23	chr3:142666293-142666343	SK-N-SH	brain:	n/a
24	chr3:142663294-142663344	NT2-D1	testis:	n/a
25	chr3:142666320-142666370	HCM	heart:	n/a
26	chr3:142666759-142666809	HCF	heart:	n/a
27	chr3:142666108-142666158	U87	brain:	n/a
28	chr3:142666293-142666343	NHBE	bronchial:	n/a
29	chr3:142666476-142666526	AoSMC	blood vessel:	n/a
30	chr3:142666476-142666526	H1-hESC	embryonic stem cell:	embryo
31	chr3:142666759-142666809	HNPCEpiC	eye:	n/a
32	chr3:142666108-142666158	HPAEpiC	pulmonary alveolar:	n/a
33	chr3:142663294-142663344	HCPEpiC	choroid plexus:	n/a
34	chr3:142666320-142666370	HCF	heart:	n/a
35	chr3:142666320-142666370	H1-hESC	embryonic stem cell:	embryo
36	chr3:142663294-142663344	ovcar-3	ovarian:	n/a
37	chr3:142666759-142666809	H1-hESC	embryonic stem cell:	embryo
38	chr3:142663294-142663344	NB4	blood:	n/a
39	chr3:142666759-142666809	HPAEpiC	pulmonary alveolar:	n/a
40	chr3:142666320-142666370	ovcar-3	ovarian:	n/a
41	chr3:142666320-142666370	HRE	kidney:	n/a
42	chr3:142663294-142663344	AG10803	skin:	n/a
43	chr3:142666293-142666343	HEEpiC	esophagus:	n/a
44	chr3:142666320-142666370	GM06990	blood:	n/a
45	chr3:142663294-142663344	GM12878	blood:	n/a
46	chr3:142666759-142666809	RPTEC	kidney:	n/a
47	chr3:142663294-142663344	SK-N-SH	brain:	n/a
48	chr3:142666108-142666158	AoSMC	blood vessel:	n/a
49	chr3:142666476-142666526	AG04449	skin:	fetal
50	chr3:142666476-142666526	LNCaP	prostate:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:142546241..142547043-chr3:142649491..142650340,2	MCF-7	breast:
2	chr3:142670834..142673882-chr3:142694771..142697300,3	K562	blood:
3	chr3:142660207..142664310-chr3:142680808..142683956,4	K562	blood:
4	chr3:142665756..142669062-chr3:142679483..142682253,4	K562	blood:
5	chr3:142648477..142650076-chr3:142657303..142659740,2	K562	blood:
6	chr3:142650379..142653024-chr3:142719705..142721620,2	K562	blood:
7	chr3:142646642..142649526-chr3:142698075..142700491,2	K562	blood:
8	chr3:142656522..142658670-chr3:142671926..142673545,2	K562	blood:
9	chr3:142648477..142650076-chr3:142657303..142659740,2	K562	blood:
10	chr3:142650379..142653269-chr3:142718625..142721620,3	K562	blood:
11	chr3:142659743..142661707-chr3:142682382..142684881,3	K562	blood:
12	chr3:142654938..142656735-chr3:142682113..142684529,2	K562	blood:
13	chr3:142648243..142649217-chr3:142705740..142706552,4	MCF-7	breast:
14	chr3:142646198..142649635-chr3:142718631..142722027,3	K562	blood:
15	chr3:142668138..142670441-chr3:142671442..142674253,2	K562	blood:
16	chr3:142665911..142667875-chr3:142670714..142673324,3	K562	blood:
17	chr3:142655514..142657590-chr3:142675031..142676784,2	MCF-7	breast:
18	chr3:142642786..142644380-chr3:142653586..142656413,2	K562	blood:
19	chr3:142651289..142652804-chr3:142658584..142660364,2	K562	blood:
20	chr2:222912450..222913378-chr3:142671250..142671914,2	MCF-7	breast:
21	chr3:142647321..142650179-chr3:142650476..142652282,2	K562	blood:
22	chr3:142665513..142667988-chr3:142673970..142676058,2	K562	blood:
23	chr3:142596342..142599024-chr3:142671060..142673043,2	MCF-7	breast:
24	chr3:142303600..142305532-chr3:142667653..142669421,2	K562	blood:
25	chr3:142605802..142607815-chr3:142647125..142649586,2	K562	blood:
26	chr3:142665513..142667988-chr3:142673970..142676058,2	K562	blood:
27	chr3:142668138..142670441-chr3:142671442..142674253,2	K562	blood:
28	chr3:142669464..142674589-chr3:142676455..142683830,12	K562	blood:
29	chr3:142649561..142650381-chr3:142712538..142713502,2	MCF-7	breast:
30	chr3:142662184..142664505-chr3:142665756..142667979,2	K562	blood:
31	chr3:142651551..142654466-chr3:142715710..142718013,2	K562	blood:
32	chr3:142646363..142649526-chr3:142696686..142700491,3	K562	blood:
33	chr3:142653382..142655554-chr3:142682944..142686088,3	K562	blood:
34	chr3:142651289..142652804-chr3:142658584..142660364,2	K562	blood:
35	chr3:142313909..142316781-chr3:142649039..142651216,2	K562	blood:
36	chr3:142647858..142649587-chr3:142722010..142723590,2	K562	blood:
37	chr3:142652261..142655248-chr3:142655496..142658568,3	MCF-7	breast:
38	chr3:142647321..142650179-chr3:142650476..142652282,2	K562	blood:
39	chr3:142662184..142664505-chr3:142665756..142667979,2	K562	blood:
40	chr3:142665911..142667875-chr3:142670714..142673324,3	K562	blood:
41	chr3:142649831..142652993-chr3:142654764..142656664,3	K562	blood:
42	chr3:142647572..142650450-chr3:142712421..142714563,2	K562	blood:
43	chr3:142649831..142652993-chr3:142654764..142656664,3	K562	blood:
44	chr3:142547239..142548107-chr3:142649094..142649676,4	MCF-7	breast:
45	chr3:142644210..142646377-chr3:142646529..142649534,4	K562	blood:
46	chr3:142671255..142673627-chr3:142694545..142697300,2	K562	blood:
47	chr3:142659991..142662651-chr3:142718305..142720193,2	MCF-7	breast:
48	chr3:142644725..142647304-chr3:142647371..142649534,2	K562	blood:
49	chr3:142666617..142668359-chr3:142676721..142679354,2	K562	blood:

(count:44 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-U2SURP-3	chr3:142656956-142657530	NONHSAT092490
2	lnc-U2SURP-3	chr3:142652046-142654646	NONHSAT092490
3	lnc-U2SURP-3	chr3:142655265-142655488	NONHSAT092491
4	lnc-U2SURP-3	chr3:142657317-142657495	NONHSAT092493
5	lnc-U2SURP-3	chr3:142652047-142652110	NONHSAT092491
6	lnc-U2SURP-3	chr3:142660241-142661363	NONHSAT092498
7	lnc-U2SURP-3	chr3:142660241-142661363	NONHSAT092492
8	lnc-U2SURP-3	chr3:142652047-142652110	NONHSAT092493
9	lnc-U2SURP-3	chr3:142652047-142652110	NONHSAT092492
10	lnc-U2SURP-3	chr3:142654983-142655175	XLOC_002845
11	lnc-U2SURP-3	chr3:142657317-142658205	NONHSAT092499
12	lnc-U2SURP-3	chr3:142660241-142660613	XLOC_002845
13	lnc-U2SURP-3	chr3:142655265-142655488	XLOC_002845
14	lnc-U2SURP-3	chr3:142656292-142656731	ENSG00000243818.3
15	lnc-U2SURP-3	chr3:142656289-142656731	XLOC_002845
16	lnc-U2SURP-3	chr3:142652047-142652110	XLOC_002845
17	lnc-U2SURP-3	chr3:142652730-142652936	XLOC_002845
18	lnc-U2SURP-3	chr3:142660241-142661378	NONHSAT092491
19	lnc-U2SURP-3	chr3:142655446-142655488	XLOC_002845
20	lnc-U2SURP-3	chr3:142660241-142660299	XLOC_002845
21	lnc-U2SURP-3	chr3:142660241-142661376	XLOC_002845
22	lnc-U2SURP-3	chr3:142660241-142661362	XLOC_002845
23	lnc-U2SURP-3	chr3:142657317-142657495	XLOC_002845
24	lnc-U2SURP-3	chr3:142654838-142655488	NONHSAT092498
25	lnc-U2SURP-3	chr3:142658908-142661376	NONHSAT092490
26	lnc-U2SURP-3	chr3:142660241-142661364	NONHSAT092495
27	lnc-U2SURP-3	chr3:142660241-142660299	ENSG00000243818.3
28	lnc-U2SURP-3	chr3:142655446-142655488	XLOC_002845
29	lnc-U2SURP-3	chr3:142660241-142661363	NONHSAT092493
30	lnc-U2SURP-3	chr3:142666042-142668146	NONHSAT092494
31	lnc-U2SURP-3	chr3:142657317-142657495	XLOC_002845
32	lnc-U2SURP-3	chr3:142660241-142661362	XLOC_002845
33	lnc-U2SURP-3	chr3:142654828-142655175	XLOC_002845
34	lnc-U2SURP-3	chr3:142657317-142657495	NONHSAT092491
35	lnc-U2SURP-3	chr3:142657082-142657495	XLOC_002845
36	lnc-U2SURP-3	chr3:142654962-142655488	NONHSAT092499
37	lnc-U2SURP-3	chr3:142652047-142652110	NONHSAT092495
38	lnc-U2SURP-3	chr3:142657317-142657495	NONHSAT092492
39	lnc-U2SURP-3	chr3:142655446-142655488	NONHSAT092492
40	lnc-U2SURP-3	chr3:142656208-142656731	NONHSAT092490
41	lnc-U2SURP-3	chr3:142657317-142657495	NONHSAT092498
42	lnc-U2SURP-3	chr3:142654820-142655572	NONHSAT092490
43	lnc-U2SURP-3	chr3:142652047-142652110	XLOC_002845
44	lnc-U2SURP-3	chr3:142652047-142652110	NONHSAT092494

No data

Variant related genes	Relation type
ENSG00000243818	TF binding region
ENSG00000241592	TF binding region
ENSG00000243818	CpG island
ENSG00000241592	CpG island
ENSG00000240950	chromatin interactions
ENSG00000163710	chromatin interactions
ENSG00000241592	chromatin interactions
ENSG00000243818	chromatin interactions
ENSG00000120756	chromatin interactions
ENSG00000188582	chromatin interactions
ENSG00000163714	chromatin interactions
ENSG00000241570	chromatin interactions
ENSG00000268129	chromatin interactions
RBL1	miRNA target sites
EIF5A2	miRNA target sites
BRWD1	miRNA target sites

Extended variants
information (count: 1015 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1015 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569378892	chr3:142649148-142649149	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs80216005	chr3:142649210-142649211	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs115059960	chr3:142649258-142649259	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs567188786	chr3:142649291-142649292	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs192870282	chr3:142649292-142649293	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs553656054	chr3:142649323-142649324	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs578255470	chr3:142649325-142649326	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs546569456	chr3:142649329-142649330	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs566345808	chr3:142649406-142649407	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs557621880	chr3:142649417-142649418	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs575673091	chr3:142649519-142649520	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs528873639	chr3:142649537-142649538	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs561326576	chr3:142649546-142649547	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs138235791	chr3:142649582-142649583	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs149611276	chr3:142649651-142649652	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs35169786	chr3:142649706-142649707	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559197287	chr3:142649742-142649743	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs533075459	chr3:142649744-142649745	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551147709	chr3:142649770-142649771	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569795160	chr3:142649773-142649774	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs530617378	chr3:142649782-142649783	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs377248204	chr3:142649803-142649804	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs567354816	chr3:142649806-142649807	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534294720	chr3:142649848-142649849	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs540717623	chr3:142649891-142649892	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs571953133	chr3:142649904-142649905	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs185311594	chr3:142650021-142650022	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs375136046	chr3:142650043-142650044	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs575789697	chr3:142650059-142650060	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs536863629	chr3:142650130-142650131	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs554720370	chr3:142650166-142650167	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs190305273	chr3:142650167-142650168	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368998154	chr3:142650175-142650176	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs140141307	chr3:142650244-142650245	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs9838306	chr3:142650291-142650292	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142201711	chr3:142650300-142650301	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs376939467	chr3:142650304-142650305	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs569535256	chr3:142650353-142650354	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544940960	chr3:142650376-142650377	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs563606619	chr3:142650402-142650403	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs530569878	chr3:142650406-142650407	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs530644208	chr3:142650421-142650422	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs5853085	chr3:142650422-142650423	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs549182217	chr3:142650424-142650425	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs540827883	chr3:142650448-142650449	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs368564633	chr3:142650457-142650458	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs75803567	chr3:142650458-142650459	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs62278544	chr3:142650460-142650461	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs73234774	chr3:142650463-142650464	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571311707	chr3:142650464-142650465	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142647800-142649600	Enhancers	K562	blood
2	chr3:142648200-142649600	Enhancers	Liver	Liver
3	chr3:142648400-142650200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:142648800-142649200	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr3:142648800-142649600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr3:142648800-142651200	Enhancers	HepG2	liver
7	chr3:142649200-142649600	Enhancers	Stomach Mucosa	stomach
8	chr3:142649200-142649600	Enhancers	A549	lung
9	chr3:142649600-142650000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:142649600-142651000	Weak transcription	Liver	Liver
11	chr3:142649600-142652000	Weak transcription	K562	blood
12	chr3:142650000-142650200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr3:142650200-142650400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:142650200-142654400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:142650400-142653400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:142651000-142651200	Enhancers	Liver	Liver
17	chr3:142651200-142651600	Weak transcription	Liver	Liver
18	chr3:142651600-142651800	Enhancers	Liver	Liver
19	chr3:142651800-142654000	Weak transcription	Liver	Liver
20	chr3:142652000-142652400	Enhancers	K562	blood
21	chr3:142652000-142652600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:142652000-142652800	Bivalent Enhancer	HepG2	liver
23	chr3:142652200-142652600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr3:142654000-142655000	Enhancers	Liver	Liver
25	chr3:142654400-142655400	Enhancers	Colonic Mucosa	Colon
26	chr3:142654400-142655400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr3:142654800-142655000	Bivalent Enhancer	HepG2	liver
28	chr3:142655000-142655400	Flanking Active TSS	Liver	Liver
29	chr3:142655200-142655600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:142655400-142656800	Active TSS	Liver	Liver
31	chr3:142656600-142658800	Enhancers	HepG2	liver
32	chr3:142656800-142657000	Weak transcription	Liver	Liver
33	chr3:142657000-142658800	Enhancers	Liver	Liver
34	chr3:142657800-142660000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:142658800-142659000	Flanking Active TSS	Liver	Liver
36	chr3:142658800-142659200	Flanking Active TSS	HepG2	liver
37	chr3:142658800-142659800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:142659000-142659200	Enhancers	Liver	Liver
39	chr3:142659000-142659800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:142659200-142659400	Flanking Active TSS	Liver	Liver
41	chr3:142659200-142659600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr3:142659200-142659600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:142659200-142659600	Enhancers	HepG2	liver
44	chr3:142659400-142659800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr3:142659400-142659800	Enhancers	Liver	Liver
46	chr3:142659400-142660200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:142659600-142660600	Flanking Active TSS	HepG2	liver
48	chr3:142659800-142660400	Flanking Active TSS	Liver	Liver
49	chr3:142659800-142660800	Enhancers	Placenta	Placenta
50	chr3:142660000-142660600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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