Variant report

Variant	nsv877613
Chromosome Location	chr3:145833232-145912055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1994)
CpG islands
(count:1284)
Chromatin interactive
region (count:98)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:10)

(count:1994 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:145878807-145879683	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:145881409-145881740	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:145878060-145878370	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:145866291-145866894	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:145871872-145872857	HepG2	liver:	n/a	chr3:145872347-145872363
6	ARID3A	chr3:145843768-145844101	HepG2	liver:	n/a	n/a
7	ARID3A	chr3:145907384-145907759	HepG2	liver:	n/a	n/a
8	ARID3A	chr3:145905102-145905388	K562	blood:	n/a	n/a
9	ARID3A	chr3:145905111-145905471	HepG2	liver:	n/a	n/a
10	ARID3A	chr3:145852205-145852509	HepG2	liver:	n/a	n/a
11	ARID3A	chr3:145833363-145834301	HepG2	liver:	n/a	n/a
12	ATF3	chr3:145881178-145881929	A549	lung:	n/a	n/a
13	ATF3	chr3:145884074-145884786	A549	lung:	n/a	n/a
14	ATF3	chr3:145884110-145884736	A549	lung:	n/a	n/a
15	ATF3	chr3:145878768-145879437	A549	lung:	n/a	chr3:145879029-145879038 chr3:145879022-145879031
16	ATF3	chr3:145881251-145881898	A549	lung:	n/a	n/a
17	ATF3	chr3:145883039-145883561	A549	lung:	n/a	n/a
18	BACH1	chr3:145877746-145879300	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr3:145860505-145860803	H1-hESC	embryonic stem cell:	n/a	n/a
20	BCL3	chr3:145879045-145879892	A549	lung:	n/a	chr3:145879065-145879078 chr3:145879062-145879075 chr3:145879564-145879573 chr3:145879061-145879074 chr3:145879061-145879070
21	BCL3	chr3:145881165-145882063	A549	lung:	n/a	n/a
22	BCL3	chr3:145884072-145884734	A549	lung:	n/a	n/a
23	BCL3	chr3:145882798-145883742	A549	lung:	n/a	n/a
24	BCL3	chr3:145883950-145884783	A549	lung:	n/a	n/a
25	BCL3	chr3:145881242-145882194	A549	lung:	n/a	n/a
26	BCL3	chr3:145877875-145879857	A549	lung:	n/a	chr3:145878879-145878892 chr3:145878816-145878829 chr3:145878912-145878925 chr3:145879065-145879078 chr3:145879062-145879075 chr3:145878817-145878830 chr3:145879564-145879573 chr3:145879061-145879074 chr3:145879061-145879070 chr3:145878616-145878629
27	BHLHE40	chr3:145878763-145879434	HepG2	liver:	n/a	chr3:145879070-145879086 chr3:145879064-145879080 chr3:145878903-145878919 chr3:145878975-145878991 chr3:145878968-145878984
28	BRCA1	chr3:145881384-145882143	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr3:145907095-145907688	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr3:145907921-145907927	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr3:145878644-145879148	H1-hESC	embryonic stem cell:	n/a	chr3:145878834-145878843
32	BRCA1	chr3:145884019-145884965	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr3:145877526-145879027	Hela-S3	cervix:	n/a	chr3:145878834-145878843
34	BRCA1	chr3:145878647-145879379	HepG2	liver:	n/a	chr3:145878834-145878843
35	CCNT2	chr3:145878882-145879094	K562	blood:	n/a	n/a
36	CEBPB	chr3:145907021-145907648	H1-hESC	embryonic stem cell:	n/a	chr3:145907081-145907092
37	CEBPB	chr3:145838536-145838593	IMR90	lung:	n/a	chr3:145838567-145838578
38	CEBPB	chr3:145833412-145833863	MCF-7	breast:	n/a	n/a
39	CEBPB	chr3:145881329-145882236	A549	lung:	n/a	chr3:145881574-145881585 chr3:145881594-145881605
40	CEBPB	chr3:145884160-145884784	A549	lung:	n/a	chr3:145884293-145884304
41	CEBPB	chr3:145843555-145844126	HCT-116	colon:	n/a	chr3:145843831-145843842
42	CEBPB	chr3:145884119-145884621	IMR90	lung:	n/a	chr3:145884293-145884304
43	CEBPB	chr3:145843640-145844121	Hela-S3	cervix:	n/a	chr3:145843831-145843842
44	CEBPB	chr3:145843683-145844281	A549	lung:	n/a	chr3:145843831-145843842
45	CEBPB	chr3:145866209-145866828	A549	lung:	n/a	n/a
46	CEBPB	chr3:145881408-145881768	HepG2	liver:	n/a	chr3:145881574-145881585 chr3:145881594-145881605
47	CEBPB	chr3:145881349-145881918	HCT-116	colon:	n/a	chr3:145881574-145881585 chr3:145881594-145881605
48	CEBPB	chr3:145872776-145873081	K562	blood:	n/a	chr3:145872911-145872923
49	CEBPB	chr3:145843681-145844029	HepG2	liver:	n/a	chr3:145843831-145843842
50	CEBPB	chr3:145881480-145881680	H1-hESC	embryonic stem cell:	n/a	chr3:145881574-145881585 chr3:145881594-145881605

(count:1284 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:145852537-145852587	BJ	skin:	n/a
2	chr3:145875907-145875957	SK-N-SH	brain:	n/a
3	chr3:145879084-145879134	Jurkat	blood:	n/a
4	chr3:145852537-145852587	BJ	skin:	n/a
5	chr3:145875907-145875957	SK-N-SH	brain:	n/a
6	chr3:145879084-145879134	Jurkat	blood:	n/a
7	chr3:145879626-145879676	Hepatocyte	liver:	n/a
8	chr3:145878963-145879013	K562	blood:	n/a
9	chr3:145879277-145879327	GM19239	blood:	n/a
10	chr3:145878177-145878227	NT2-D1	testis:	n/a
11	chr3:145835726-145835776	HUVEC	blood vessel:	n/a
12	chr3:145881800-145881850	IMR90	lung:	fetal
13	chr3:145878431-145878481	SK-N-MC	brain:	n/a
14	chr3:145878431-145878481	HepG2	liver:	n/a
15	chr3:145878963-145879013	SK-N-MC	brain:	n/a
16	chr3:145878539-145878589	HEEpiC	esophagus:	n/a
17	chr3:145871392-145871442	BE2_C	brain:	n/a
18	chr3:145881800-145881850	Hela-S3	cervix:	n/a
19	chr3:145879084-145879134	CMK	blood:	n/a
20	chr3:145879642-145879692	HepG2	liver:	n/a
21	chr3:145858384-145858434	PrEC	prostate:	n/a
22	chr3:145879568-145879618	AoSMC	blood vessel:	n/a
23	chr3:145860909-145860959	AoSMC	blood vessel:	n/a
24	chr3:145858384-145858434	HCM	heart:	n/a
25	chr3:145879568-145879618	AG10803	skin:	n/a
26	chr3:145875907-145875957	HPAEpiC	pulmonary alveolar:	n/a
27	chr3:145879084-145879134	RPTEC	kidney:	n/a
28	chr3:145879642-145879692	HRE	kidney:	n/a
29	chr3:145878431-145878481	GM19239	blood:	n/a
30	chr3:145883489-145883539	HUVEC	blood vessel:	n/a
31	chr3:145835726-145835776	ovcar-3	ovarian:	n/a
32	chr3:145875907-145875957	LNCaP	prostate:	n/a
33	chr3:145852537-145852587	MCF10A-Er-Src	breast:	n/a
34	chr3:145878431-145878481	Hepatocyte	liver:	n/a
35	chr3:145879277-145879327	AG09309	skin:	n/a
36	chr3:145881800-145881850	AG04449	skin:	fetal
37	chr3:145881800-145881850	SK-N-SH_RA	brain:	n/a
38	chr3:145879277-145879327	ECC-1	luminal epithelium:	n/a
39	chr3:145879642-145879692	Jurkat	blood:	n/a
40	chr3:145852537-145852587	GM19239	blood:	n/a
41	chr3:145871392-145871442	HPAEpiC	pulmonary alveolar:	n/a
42	chr3:145878431-145878481	HEK293	kidney:	embryo
43	chr3:145879626-145879676	HCF	heart:	n/a
44	chr3:145879710-145879760	BE2_C	brain:	n/a
45	chr3:145860909-145860959	H1-hESC	embryonic stem cell:	embryo
46	chr3:145871392-145871442	SKMC	muscle:	n/a
47	chr3:145879277-145879327	H1-hESC	embryonic stem cell:	embryo
48	chr3:145878539-145878589	AG04449	skin:	fetal
49	chr3:145871392-145871442	HAEpiC	amniotic membrane:	n/a
50	chr3:145878979-145879029	HAEpiC	amniotic membrane:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:145835695..145838592-chr3:145842329..145844265,2	MCF-7	breast:
2	chr17:66031764..66032335-chr3:145878797..145879348,2	Hela-S3	cervix:
3	chr3:145781835..145785011-chr3:145902581..145906704,4	MCF-7	breast:
4	chr3:145779537..145781361-chr3:145905477..145907451,2	MCF-7	breast:
5	chr3:145848518..145850304-chr3:145857520..145859905,2	MCF-7	breast:
6	chr3:145833525..145834065-chr3:145843449..145844000,2	MCF-7	breast:
7	chr3:145864521..145866275-chr3:145870715..145872248,2	MCF-7	breast:
8	chr3:145783076..145784215-chr3:145904959..145906020,4	MCF-7	breast:
9	chr3:145848591..145850350-chr3:145877768..145879975,2	MCF-7	breast:
10	chr3:145832668..145836066-chr3:145839232..145841565,3	MCF-7	breast:
11	chr3:145877350..145881117-chr3:145895717..145897462,3	MCF-7	breast:
12	chr3:145834823..145837112-chr3:145844959..145847874,2	MCF-7	breast:
13	chr3:145829569..145840903-chr3:145873254..145880972,31	MCF-7	breast:
14	chr3:145874654..145883964-chr3:145902489..145908084,13	MCF-7	breast:
15	chr11:67889304..67890106-chr3:145878724..145879660,2	Hela-S3	cervix:
16	chr3:145879440..145881243-chr3:146138706..146140785,2	MCF-7	breast:
17	chr3:145865509..145867074-chr3:145870719..145872599,2	K562	blood:
18	chr11:58245426..58248139-chr3:145902493..145905033,2	MCF-7	breast:
19	chr3:145835695..145838592-chr3:145842329..145844265,2	MCF-7	breast:
20	chr3:145783058..145783996-chr3:145865459..145867166,7	MCF-7	breast:
21	chr3:145897285..145900091-chr3:145902174..145904427,2	MCF-7	breast:
22	chr20:56286022..56288671-chr3:145875051..145877020,2	MCF-7	breast:
23	chr3:145832521..145835172-chr3:145842139..145845404,4	MCF-7	breast:
24	chr3:145886536..145888429-chr3:145902390..145904087,2	MCF-7	breast:
25	chr3:145880474..145882151-chr3:145882740..145884446,2	K562	blood:
26	chr3:145883004..145884526-chr3:145908906..145911614,2	MCF-7	breast:
27	chr3:145870477..145872332-chr3:145872492..145874567,2	MCF-7	breast:
28	chr3:145889043..145893047-chr3:145893361..145897417,4	K562	blood:
29	chr3:145843855..145845524-chr3:145864168..145866252,2	MCF-7	breast:
30	chr3:145832521..145835172-chr3:145842139..145845404,4	MCF-7	breast:
31	chr3:145860639..145862586-chr3:145877075..145878969,2	MCF-7	breast:
32	chr3:145868830..145872262-chr3:145881585..145883218,3	MCF-7	breast:
33	chr3:145878599..145881384-chr3:145968449..145970595,2	MCF-7	breast:
34	chr3:145832179..145836696-chr3:145881447..145885871,6	MCF-7	breast:
35	chr3:145843180..145847334-chr3:145876555..145880843,5	MCF-7	breast:
36	chr3:145843855..145845524-chr3:145864168..145866252,2	MCF-7	breast:
37	chr3:145783644..145786560-chr3:145833867..145835451,2	MCF-7	breast:
38	chr3:145834823..145837112-chr3:145844959..145847874,2	MCF-7	breast:
39	chr3:145883004..145884526-chr3:145908906..145911614,2	MCF-7	breast:
40	chr3:53195198..53195701-chr3:145873151..145873651,2	Hela-S3	cervix:
41	chr3:145804083..145806262-chr3:145874178..145876137,2	MCF-7	breast:
42	chr3:145907272..145908250-chr3:146358720..146359373,2	MCF-7	breast:
43	chr3:145847747..145850479-chr3:145851136..145852882,2	MCF-7	breast:
44	chr3:145907332..145908011-chr3:146044703..146045227,2	K562	blood:
45	chr3:145786878..145789402-chr3:145831602..145833986,2	MCF-7	breast:
46	chr3:145845645..145847745-chr3:145881279..145883375,2	MCF-7	breast:
47	chr3:145782122..145785411-chr3:145878106..145882365,5	MCF-7	breast:
48	chr3:145783014..145783624-chr3:145865958..145866776,2	MCF-7	breast:
49	chr3:145889043..145893047-chr3:145893361..145897417,4	K562	blood:
50	chr3:145856481..145858828-chr3:145868804..145871513,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC107021.1-6	chr3:145880657-145880745	NONHSAT092552
2	lnc-PLOD2-3	chr3:145884655-145884915	NONHSAT092553
3	lnc-AC107021.1-6	chr3:145881383-145881588	NONHSAT092552

No data

(count:10 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PLSCR4	hsa-miR-15b-5p	chr3:145910585-145910606
2	PLSCR4	hsa-miR-15b-5p	chr3:145910793-145910815
3	PLSCR4	hsa-miR-16-5p	chr3:145910629-145910622
4	PLSCR4	hsa-miR-15b-5p	chr3:145910623-145910644
5	PLSCR4	hsa-miR-16-5p	chr3:145910585-145910607
6	PLSCR4	hsa-miR-16-5p	chr3:145910623-145910644
7	PLSCR4	hsa-miR-103a-3p	chr3:145910624-145910647
8	PLSCR4	hsa-miR-16-5p	chr3:145910796-145910817
9	PLSCR4	hsa-miR-15b-5p	chr3:145910629-145910622
10	PLSCR4	hsa-miR-124-3p	chr3:145910564-145910583

Variant related genes	Relation type
PLOD2	TF binding region
PLOD2	CpG island
ENSG00000114698	chromatin interactions
ENSG00000112715	chromatin interactions
ENSG00000232013	chromatin interactions
ENSG00000243415	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000124225	chromatin interactions
ENSG00000182481	chromatin interactions
ENSG00000240032	chromatin interactions
ENSG00000266328	chromatin interactions
ENSG00000152952	chromatin interactions
ENSG00000255236	chromatin interactions
ENSG00000163932	chromatin interactions
ENSG00000187601	chromatin interactions

Extended variants
information (count: 2856 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2856 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6801418	chr3:145833232-145833233	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143351918	chr3:145833254-145833255	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538441255	chr3:145833285-145833286	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550386981	chr3:145833308-145833309	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs112116504	chr3:145833326-145833327	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536320279	chr3:145833345-145833346	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557353104	chr3:145833371-145833372	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554373626	chr3:145833394-145833395	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs566426407	chr3:145833449-145833450	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371111156	chr3:145833476-145833477	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533812056	chr3:145833506-145833507	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372978015	chr3:145833537-145833538	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs578257315	chr3:145833599-145833600	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs73148960	chr3:145833600-145833601	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs557554423	chr3:145833602-145833603	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575770259	chr3:145833651-145833652	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs114250366	chr3:145833662-145833663	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs114791873	chr3:145833667-145833668	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377013202	chr3:145833752-145833753	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540274333	chr3:145833784-145833785	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs190641043	chr3:145833868-145833869	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs564814654	chr3:145833886-145833887	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs56393425	chr3:145833899-145833900	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573340761	chr3:145833911-145833912	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs550485425	chr3:145833951-145833952	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs76223280	chr3:145833971-145833972	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs192817863	chr3:145833975-145833976	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs73865310	chr3:145833986-145833987	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4681296	chr3:145834041-145834042	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs148565571	chr3:145834061-145834062	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533749504	chr3:145834062-145834063	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185334836	chr3:145834087-145834088	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75520013	chr3:145834088-145834089	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539309058	chr3:145834115-145834116	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569412657	chr3:145834129-145834130	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557372713	chr3:145834130-145834131	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371306064	chr3:145834231-145834232	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs189458781	chr3:145834233-145834234	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs375166001	chr3:145834239-145834240	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536743290	chr3:145834253-145834254	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370267363	chr3:145834267-145834268	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573027453	chr3:145834302-145834303	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs116412063	chr3:145834380-145834381	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs116614890	chr3:145834401-145834402	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs9858081	chr3:145834410-145834411	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs142095940	chr3:145834412-145834413	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs9858095	chr3:145834419-145834420	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs529895807	chr3:145834464-145834465	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs9878166	chr3:145834477-145834478	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs566547642	chr3:145834484-145834485	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	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
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2081 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145782800-145843200	Weak transcription	Pancreas	Pancrea
2	chr3:145784600-145848800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:145790400-145843200	Weak transcription	Right Ventricle	heart
4	chr3:145791600-145833800	Weak transcription	NHDF-Ad	bronchial
5	chr3:145798800-145839200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:145810400-145849800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:145810800-145851200	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:145812200-145839200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:145814200-145841000	Weak transcription	Lung	lung
10	chr3:145816000-145836800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:145816400-145842000	Weak transcription	Colonic Mucosa	Colon
12	chr3:145819800-145841800	Weak transcription	Fetal Heart	heart
13	chr3:145819800-145849200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:145820000-145834000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:145821000-145849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:145821200-145835200	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:145821200-145835400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:145822200-145833800	Weak transcription	Fetal Kidney	kidney
19	chr3:145822800-145836800	Weak transcription	Ovary	ovary
20	chr3:145824600-145835000	Weak transcription	HMEC	breast
21	chr3:145824600-145839600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr3:145825000-145835400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:145827000-145855200	Weak transcription	Aorta	Aorta
24	chr3:145827400-145833600	Weak transcription	Fetal Intestine Large	intestine
25	chr3:145827400-145836600	Weak transcription	Adipose Nuclei	Adipose
26	chr3:145827400-145836600	Weak transcription	HSMMtube	muscle
27	chr3:145827400-145840200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr3:145827400-145842000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:145828400-145833400	Weak transcription	NH-A	brain
30	chr3:145828600-145837200	Strong transcription	HSMM	muscle
31	chr3:145831400-145848400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:145831600-145834600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr3:145831800-145834600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:145832000-145835000	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr3:145832000-145836800	Weak transcription	Placenta	Placenta
36	chr3:145832000-145870800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr3:145832200-145835600	Weak transcription	Psoas Muscle	Psoas
38	chr3:145832200-145836800	Weak transcription	Left Ventricle	heart
39	chr3:145832200-145838400	Weak transcription	Fetal Stomach	stomach
40	chr3:145832400-145834200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:145832400-145834600	Enhancers	HepG2	liver
42	chr3:145832400-145835000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:145832400-145835400	Strong transcription	Osteobl	bone
44	chr3:145832600-145848400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:145832800-145834600	Enhancers	Liver	Liver
46	chr3:145833000-145833400	Strong transcription	Fetal Lung	lung
47	chr3:145833000-145833800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr3:145833000-145834200	Genic enhancers	A549	lung
49	chr3:145833000-145834800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:145833000-145835200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links