Variant report

Variant	nsv1014457
Chromosome Location	chr3:47222292-47335175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2005)
CpG islands
(count:1527)
Chromatin interactive
region (count:105)
LncRNA
region (count:31)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2005 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:47308268-47308747	K562	blood:	n/a	n/a
2	ARID3A	chr3:47324004-47324371	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:47292083-47292283	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:47323075-47323404	K562	blood:	n/a	n/a
5	ARID3A	chr3:47225033-47225090	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:47324070-47324490	K562	blood:	n/a	n/a
7	ARID3A	chr3:47276354-47276535	HepG2	liver:	n/a	n/a
8	ATF1	chr3:47299134-47299309	K562	blood:	n/a	n/a
9	ATF1	chr3:47323971-47324544	K562	blood:	n/a	n/a
10	ATF1	chr3:47308118-47308558	K562	blood:	n/a	n/a
11	ATF1	chr3:47261403-47261628	K562	blood:	n/a	n/a
12	ATF2	chr3:47323878-47324485	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr3:47324006-47324580	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr3:47266792-47267582	GM12878	blood:	n/a	n/a
15	ATF2	chr3:47269141-47269719	GM12878	blood:	n/a	n/a
16	ATF2	chr3:47323789-47324592	GM12878	blood:	n/a	n/a
17	ATF2	chr3:47323863-47324462	GM12878	blood:	n/a	n/a
18	ATF2	chr3:47308168-47308523	GM12878	blood:	n/a	n/a
19	ATF2	chr3:47333131-47333722	GM12878	blood:	n/a	n/a
20	ATF2	chr3:47308130-47308651	GM12878	blood:	n/a	n/a
21	ATF2	chr3:47269068-47270042	GM12878	blood:	n/a	n/a
22	ATF3	chr3:47323855-47324574	K562	blood:	n/a	n/a
23	ATF3	chr3:47324122-47324602	A549	lung:	n/a	n/a
24	ATF3	chr3:47308145-47308653	K562	blood:	n/a	n/a
25	ATF3	chr3:47308254-47308488	K562	blood:	n/a	n/a
26	ATF3	chr3:47323677-47324632	K562	blood:	n/a	n/a
27	ATF3	chr3:47323888-47324389	A549	lung:	n/a	n/a
28	BACH1	chr3:47325174-47325337	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr3:47227914-47228096	K562	blood:	n/a	n/a
30	BACH1	chr3:47323834-47324472	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr3:47323186-47323365	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr3:47308213-47308506	GM12878	blood:	n/a	n/a
33	BATF	chr3:47267180-47267465	GM12878	blood:	n/a	n/a
34	BATF	chr3:47269204-47269540	GM12878	blood:	n/a	n/a
35	BCL11A	chr3:47267137-47267451	GM12878	blood:	n/a	n/a
36	BCL11A	chr3:47269177-47269569	GM12878	blood:	n/a	chr3:47269360-47269369
37	BCL11A	chr3:47267127-47267524	GM12878	blood:	n/a	n/a
38	BCL11A	chr3:47323910-47324358	GM12878	blood:	n/a	n/a
39	BCL3	chr3:47281092-47281525	GM12878	blood:	n/a	n/a
40	BCL3	chr3:47323907-47324663	A549	lung:	n/a	chr3:47324597-47324610
41	BCLAF1	chr3:47323761-47324637	K562	blood:	n/a	chr3:47324597-47324610
42	BCLAF1	chr3:47323815-47324612	GM12878	blood:	n/a	chr3:47324597-47324610
43	BCLAF1	chr3:47266757-47267590	GM12878	blood:	n/a	n/a
44	BCLAF1	chr3:47333142-47333735	GM12878	blood:	n/a	chr3:47333281-47333290 chr3:47333278-47333287
45	BCLAF1	chr3:47269099-47270078	GM12878	blood:	n/a	chr3:47269360-47269369
46	BCLAF1	chr3:47267037-47267581	GM12878	blood:	n/a	n/a
47	BCLAF1	chr3:47323739-47324682	GM12878	blood:	n/a	chr3:47324597-47324610
48	BHLHE40	chr3:47269273-47269451	GM12878	blood:	n/a	n/a
49	BHLHE40	chr3:47324043-47324385	A549	lung:	n/a	n/a
50	BHLHE40	chr3:47267136-47267476	GM12878	blood:	n/a	n/a

(count:1527 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:47324909-47324959	AG09319	gingival:	n/a
2	chr3:47324151-47324201	HEK293	kidney:	embryo
3	chr3:47324909-47324959	AG09319	gingival:	n/a
4	chr3:47324151-47324201	HEK293	kidney:	embryo
5	chr3:47324151-47324201	AG04449	skin:	fetal
6	chr3:47323932-47323982	HEK293	kidney:	embryo
7	chr3:47324572-47324622	HRCEpiC	kidney:	n/a
8	chr3:47323578-47323628	MCF-7	breast:	n/a
9	chr3:47324572-47324622	NT2-D1	testis:	n/a
10	chr3:47324306-47324356	U87	brain:	n/a
11	chr3:47323932-47323982	HCPEpiC	choroid plexus:	n/a
12	chr3:47307826-47307876	ProgFib	skin:	n/a
13	chr3:47322368-47322418	AoSMC	blood vessel:	n/a
14	chr3:47324306-47324356	LNCaP	prostate:	n/a
15	chr3:47324522-47324572	PFSK-1	brain:	n/a
16	chr3:47323932-47323982	NB4	blood:	n/a
17	chr3:47323868-47323918	ECC-1	luminal epithelium:	n/a
18	chr3:47323868-47323918	H1-hESC	embryonic stem cell:	embryo
19	chr3:47324306-47324356	IMR90	lung:	fetal
20	chr3:47321361-47321411	ECC-1	luminal epithelium:	n/a
21	chr3:47324572-47324622	GM19239	blood:	n/a
22	chr3:47322368-47322418	HUVEC	blood vessel:	n/a
23	chr3:47300872-47300922	SAEC	small airway:	n/a
24	chr3:47323555-47323605	AG10803	skin:	n/a
25	chr3:47324552-47324602	SK-N-SH	brain:	n/a
26	chr3:47324472-47324522	GM06990	blood:	n/a
27	chr3:47324013-47324063	HEK293	kidney:	embryo
28	chr3:47324530-47324580	Jurkat	blood:	n/a
29	chr3:47324013-47324063	HPAEpiC	pulmonary alveolar:	n/a
30	chr3:47324013-47324063	BJ	skin:	n/a
31	chr3:47323932-47323982	GM06990	blood:	n/a
32	chr3:47324549-47324599	NB4	blood:	n/a
33	chr3:47324180-47324230	BJ	skin:	n/a
34	chr3:47324572-47324622	BE2_C	brain:	n/a
35	chr3:47324524-47324574	T-47D	breast:	n/a
36	chr3:47324522-47324572	RPTEC	kidney:	n/a
37	chr3:47323555-47323605	T-47D	breast:	n/a
38	chr3:47324151-47324201	HepG2	liver:	n/a
39	chr3:47324151-47324201	BE2_C	brain:	n/a
40	chr3:47324013-47324063	HAEpiC	amniotic membrane:	n/a
41	chr3:47324180-47324230	NHDF-neo	bronchial:	n/a
42	chr3:47324151-47324201	HAEpiC	amniotic membrane:	n/a
43	chr3:47323578-47323628	HRPEpiC	eye:	n/a
44	chr3:47324530-47324580	HRCEpiC	kidney:	n/a
45	chr3:47324549-47324599	AG04449	skin:	fetal
46	chr3:47324549-47324599	PFSK-1	brain:	n/a
47	chr3:47269695-47269745	PANC-1	pancreas:	n/a
48	chr3:47324151-47324201	HCPEpiC	choroid plexus:	n/a
49	chr3:47324522-47324572	HEK293	kidney:	embryo
50	chr3:47300872-47300922	Hela-S3	cervix:	n/a

(count:105 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:47308251..47310549-chr3:47311430..47313060,2	K562	blood:
2	chr3:47327849..47330607-chr3:47409211..47411755,2	MCF-7	breast:
3	chr3:47216807..47218782-chr3:47220055..47222409,2	K562	blood:
4	chr3:47308250..47310390-chr3:47316746..47318769,2	MCF-7	breast:
5	chr3:47327276..47329634-chr3:47339647..47341726,2	MCF-7	breast:
6	chr3:47321055..47325957-chr3:47326199..47329332,5	MCF-7	breast:
7	chr3:47313668..47315182-chr3:47315381..47317166,2	K562	blood:
8	chr3:47292810..47293742-chr3:47411913..47413200,3	K562	blood:
9	chr3:47302969..47305795-chr3:47313917..47316703,2	MCF-7	breast:
10	chr3:47308250..47310390-chr3:47316746..47318769,2	MCF-7	breast:
11	chr3:47276538..47278116-chr3:47285524..47288270,2	K562	blood:
12	chr3:47204838..47207181-chr3:47301798..47304329,2	K562	blood:
13	chr3:47318429..47320664-chr3:47321864..47324822,2	MCF-7	breast:
14	chr3:47292265..47292769-chr3:47365820..47366415,2	MCF-7	breast:
15	chr15:41912679..41913627-chr3:47323511..47324442,2	Hela-S3	cervix:
16	chr3:47315142..47317438-chr3:47319017..47321416,3	K562	blood:
17	chr3:47246768..47248949-chr3:47249706..47251385,2	K562	blood:
18	chr3:47323698..47326869-chr3:47421986..47424400,3	MCF-7	breast:
19	chr3:47016936..47018509-chr3:47322606..47324747,2	K562	blood:
20	chr3:47322971..47323489-chr3:47365701..47366462,2	MCF-7	breast:
21	chr3:47315110..47317997-chr3:47321683..47324760,3	MCF-7	breast:
22	chr3:47286980..47288792-chr3:47322744..47324796,2	K562	blood:
23	chr3:47308440..47310192-chr3:47315803..47317741,2	K562	blood:
24	chr3:47287521..47289047-chr3:47290357..47292031,2	K562	blood:
25	chr3:47266423..47269047-chr3:47271285..47273402,2	K562	blood:
26	chr3:47292029..47293531-chr8:33370667..33372185,2	MCF-7	breast:
27	chr3:47326087..47329023-chr3:47353816..47355413,2	K562	blood:
28	chr3:47306715..47308916-chr3:47322571..47324674,2	MCF-7	breast:
29	chr3:47276373..47278773-chr3:47281395..47283848,2	K562	blood:
30	chr3:47205609..47207145-chr3:47226489..47228107,2	K562	blood:
31	chr3:47314259..47316473-chr3:47352261..47355083,2	K562	blood:
32	chr3:47321748..47325634-chr3:47331051..47333243,3	MCF-7	breast:
33	chr3:47256140..47258456-chr3:47263578..47266012,2	K562	blood:
34	chr3:47324146..47324903-chr6:31802269..31802778,2	HCT-116	colon:
35	chr3:47334914..47337230-chr3:47365085..47366632,2	MCF-7	breast:
36	chr3:47304767..47306689-chr3:47364605..47367397,2	K562	blood:
37	chr3:47287521..47289047-chr3:47290357..47292031,2	K562	blood:
38	chr3:47244578..47247467-chr3:47322927..47324918,2	MCF-7	breast:
39	chr10:134120745..134121661-chr3:47324003..47324567,2	Hela-S3	cervix:
40	chr3:47285472..47289397-chr3:47290230..47292753,5	K562	blood:
41	chr3:47290764..47292267-chr3:47322907..47324747,2	K562	blood:
42	chr3:47314107..47316090-chr3:47317233..47318889,2	K562	blood:
43	chr3:47276538..47278116-chr3:47285524..47288270,2	K562	blood:
44	chr3:47256438..47258456-chr3:47263578..47265840,2	K562	blood:
45	chr3:47279696..47282501-chr3:47283361..47286390,3	K562	blood:
46	chr3:47315142..47317438-chr3:47319017..47321416,3	K562	blood:
47	chr3:47203167..47206119-chr3:47335033..47336755,2	K562	blood:
48	chr3:47306715..47308916-chr3:47322571..47324674,2	MCF-7	breast:
49	chr3:47279696..47282501-chr3:47283361..47286390,3	K562	blood:
50	chr3:47254260..47256683-chr3:47261651..47264367,2	MCF-7	breast:

(count:31 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL18-1	chr3:47281105-47281684	ENSG00000227398
2	lnc-SETD2-3	chr3:47318584-47318869	NONHSAT089491
3	lnc-KLHL18-1	chr3:47273257-47273353	ENSG00000227398
4	lnc-KLHL18-1	chr3:47279894-47280059	NONHSAT089478
5	lnc-KLHL18-1	chr3:47277547-47277649	ENSG00000227398
6	lnc-KLHL18-1	chr3:47279894-47280059	NONHSAT089479
7	lnc-KLHL18-1	chr3:47284469-47285606	NONHSAT089478
8	lnc-KLHL18-1	chr3:47273257-47273353	NONHSAT089478
9	lnc-KLHL18-1	chr3:47281105-47281684	NONHSAT089478
10	lnc-NBEAL2-2	chr3:47254898-47255063	refGeneNc_4033_NR_033373
11	lnc-KLHL18-1	chr3:47279894-47280059	ENSG00000227398
12	lnc-KLHL18-1	chr3:47284469-47285546	ENSG00000227398
13	lnc-KLHL18-1	chr3:47273257-47273353	ENSG00000227398.3
14	lnc-NBEAL2-2	chr3:47256109-47256688	refGeneNc_4033_NR_033373
15	lnc-KLHL18-1	chr3:47284469-47287987	NONHSAT089488
16	lnc-KLHL18-1	chr3:47277547-47277649	ENSG00000227398.3
17	lnc-KLHL18-4	chr3:47263633-47264866	NONHSAT089485
18	lnc-KLHL18-1	chr3:47273257-47273348	NONHSAT089479
19	lnc-KLHL18-1	chr3:47281105-47281684	ENSG00000227398.3
20	lnc-NBEAL2-2	chr3:47248261-47248357	refGeneNc_4033_NR_033373
21	lnc-KLHL18-1	chr3:47277544-47277649	NONHSAT089479
22	lnc-NBEAL2-2	chr3:47252551-47252653	refGeneNc_4033_NR_033373
23	lnc-KLHL18-1	chr3:47277547-47277649	NONHSAT089478
24	lnc-NBEAL2-2	chr3:47259473-47260609	refGeneNc_4033_NR_033373
25	lnc-SETD2-3	chr3:47323985-47324256	NONHSAT089491
26	lnc-KLHL18-1	chr3:47281105-47281684	NONHSAT089479
27	lnc-KLHL18-6	chr3:47234969-47239512	NONHSAT089483
28	lnc-KLHL18-1	chr3:47279894-47280059	ENSG00000227398.3
29	lnc-KLHL18-1	chr3:47284469-47285546	NONHSAT089479
30	lnc-KLHL18-1	chr3:47280950-47281684	NONHSAT089488
31	lnc-KLHL18-1	chr3:47284469-47288091	ENSG00000227398.3

No data

Variant related genes	Relation type
ENSG00000239128	TF binding region
KIF9	TF binding region
KLHL18	TF binding region
ENSG00000239128	CpG island
KIF9	CpG island
KLHL18	CpG island
ENSG00000114648	chromatin interactions
ENSG00000227398	chromatin interactions
ENSG00000181555	chromatin interactions
ENSG00000188566	chromatin interactions
ENSG00000076201	chromatin interactions
ENSG00000160799	chromatin interactions
ENSG00000163832	chromatin interactions
ENSG00000260236	chromatin interactions
ENSG00000165752	chromatin interactions
ENSG00000088727	chromatin interactions
ENSG00000160796	chromatin interactions
ENSG00000129696	chromatin interactions
ENSG00000187713	chromatin interactions
ENSG00000204231	chromatin interactions
ENSG00000112473	chromatin interactions
ENSG00000239128	chromatin interactions
ENSG00000204387	chromatin interactions
ENSG00000174197	chromatin interactions
ENSG00000239039	chromatin interactions
TNPO1	miRNA target sites
C4orf43	miRNA target sites
BMPR2	miRNA target sites
NUP205	miRNA target sites
BTRC	miRNA target sites

Extended variants
information (count: 3803 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:3803 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563959031	chr3:47222298-47222299	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191437080	chr3:47222339-47222340	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34115187	chr3:47222375-47222376	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566963873	chr3:47222404-47222405	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113324123	chr3:47222433-47222434	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183278107	chr3:47222446-47222447	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528540669	chr3:47222447-47222448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547233062	chr3:47222520-47222521	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565730551	chr3:47222522-47222523	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529859820	chr3:47222529-47222530	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548193498	chr3:47222530-47222531	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559246287	chr3:47222602-47222603	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189115924	chr3:47222662-47222663	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372561464	chr3:47222664-47222665	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150244055	chr3:47222712-47222713	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112454977	chr3:47222717-47222718	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145533996	chr3:47222763-47222764	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553062935	chr3:47222784-47222785	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373574387	chr3:47222785-47222786	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574937044	chr3:47222788-47222789	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201654756	chr3:47222830-47222831	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200456797	chr3:47222842-47222843	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112076622	chr3:47222843-47222844	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373077006	chr3:47222844-47222845	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376898804	chr3:47222846-47222847	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542379920	chr3:47222854-47222855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557384728	chr3:47223005-47223006	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112742131	chr3:47223021-47223022	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575876160	chr3:47223061-47223062	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192871335	chr3:47223132-47223133	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551675122	chr3:47223134-47223135	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564133334	chr3:47223152-47223153	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528606470	chr3:47223155-47223156	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540341075	chr3:47223190-47223191	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368863214	chr3:47223210-47223211	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185399043	chr3:47223303-47223304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs562167797	chr3:47223393-47223394	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529872024	chr3:47223426-47223427	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs548938536	chr3:47223432-47223433	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs116692860	chr3:47223438-47223439	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs189558682	chr3:47223447-47223448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530804304	chr3:47223546-47223547	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552250200	chr3:47223560-47223561	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570471257	chr3:47223569-47223570	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534550574	chr3:47223591-47223592	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552813252	chr3:47223612-47223613	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568112715	chr3:47223666-47223667	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535702738	chr3:47223674-47223675	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548994698	chr3:47223686-47223687	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs148846352	chr3:47223733-47223734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1759 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47206800-47228000	Weak transcription	Spleen	Spleen
2	chr3:47207000-47222400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:47207000-47224400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:47207000-47253800	Weak transcription	Aorta	Aorta
5	chr3:47207200-47225800	Weak transcription	Placenta	Placenta
6	chr3:47207200-47235800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:47207400-47224400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:47207800-47222400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:47207800-47222600	Weak transcription	Small Intestine	intestine
10	chr3:47207800-47223600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:47207800-47224200	Weak transcription	NH-A	brain
12	chr3:47207800-47224800	Weak transcription	Adipose Nuclei	Adipose
13	chr3:47207800-47228000	Weak transcription	HMEC	breast
14	chr3:47208000-47222400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:47208000-47223600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:47208000-47223800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:47208000-47227800	Weak transcription	K562	blood
18	chr3:47208000-47230600	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:47208000-47249600	Weak transcription	Ovary	ovary
20	chr3:47208200-47222600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:47208200-47223200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:47208200-47223600	Weak transcription	Hela-S3	cervix
23	chr3:47208200-47223800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:47208200-47224200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:47208200-47224600	Weak transcription	Brain Germinal Matrix	brain
26	chr3:47208200-47225200	Weak transcription	Fetal Intestine Small	intestine
27	chr3:47208200-47225400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:47208200-47229400	Weak transcription	NHLF	lung
29	chr3:47208200-47232600	Weak transcription	Fetal Brain Female	brain
30	chr3:47208200-47256400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:47208200-47276600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:47208400-47222800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:47208400-47223800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:47208400-47224800	Weak transcription	HepG2	liver
35	chr3:47208400-47225800	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:47208600-47224200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr3:47217800-47223800	Weak transcription	Primary B cells from cord blood	blood
38	chr3:47217800-47236600	Weak transcription	Right Ventricle	heart
39	chr3:47218200-47226400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:47219400-47243400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:47220000-47223600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:47220200-47223200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:47220600-47222800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:47220600-47222800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:47220600-47223200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:47220800-47222600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr3:47220800-47222800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:47220800-47223000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:47220800-47223000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:47220800-47223200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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