Variant report

Variant	nsv593451
Chromosome Location	chr4:3413209-3446112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:934)
CpG islands
(count:3482)
Chromatin interactive
region (count:56)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:934 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:3443453-3443675	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:3445241-3445522	HepG2	liver:	n/a	n/a
3	ATF3	chr4:3445269-3445466	K562	blood:	n/a	n/a
4	BHLHE40	chr4:3445170-3445557	HepG2	liver:	n/a	chr4:3445365-3445381
5	BHLHE40	chr4:3445191-3445500	GM12878	blood:	n/a	chr4:3445365-3445381
6	BHLHE40	chr4:3434585-3434667	K562	blood:	n/a	n/a
7	BHLHE40	chr4:3415199-3415389	GM12878	blood:	n/a	n/a
8	BHLHE40	chr4:3445224-3445543	K562	blood:	n/a	chr4:3445365-3445381
9	BRCA1	chr4:3445279-3445522	HepG2	liver:	n/a	n/a
10	CCNT2	chr4:3445350-3445426	K562	blood:	n/a	n/a
11	CEBPB	chr4:3422748-3422907	A549	lung:	n/a	n/a
12	CEBPB	chr4:3445210-3445549	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr4:3438739-3439132	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr4:3422746-3422943	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr4:3423122-3423211	K562	blood:	n/a	n/a
16	CEBPB	chr4:3422619-3422819	HepG2	liver:	n/a	n/a
17	CEBPD	chr4:3443344-3444000	HepG2	liver:	n/a	n/a
18	CEBPD	chr4:3445106-3445439	HepG2	liver:	n/a	n/a
19	CHD2	chr4:3438705-3439109	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr4:3444625-3444775	HepG2	liver:	n/a	n/a
21	CHD2	chr4:3444229-3444230	HepG2	liver:	n/a	n/a
22	CHD2	chr4:3445341-3445531	HepG2	liver:	n/a	n/a
23	CHD2	chr4:3443379-3443859	HepG2	liver:	n/a	chr4:3443687-3443697
24	CHD2	chr4:3438403-3438499	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr4:3442759-3442777	HepG2	liver:	n/a	n/a
26	CHD2	chr4:3445219-3445398	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr4:3420214-3420227	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr4:3445232-3445485	A549	lung:	n/a	n/a
29	CTCF	chr4:3420201-3420461	NHEK	skin:	n/a	n/a
30	CTCF	chr4:3445300-3445450	WERI-Rb-1	eye:	n/a	chr4:3445365-3445381 chr4:3445364-3445382 chr4:3445367-3445377 chr4:3445370-3445379 chr4:3445366-3445379 chr4:3445366-3445379
31	CTCF	chr4:3420260-3420410	HFF-Myc	foreskin:	n/a	n/a
32	CTCF	chr4:3445206-3445551	LNCaP	prostate:	n/a	chr4:3445365-3445381 chr4:3445364-3445382 chr4:3445367-3445377 chr4:3445370-3445379 chr4:3445366-3445379 chr4:3445366-3445379
33	CTCF	chr4:3445240-3445390	GM12872	blood:	n/a	chr4:3445365-3445381 chr4:3445364-3445382 chr4:3445367-3445377 chr4:3445370-3445379 chr4:3445366-3445379 chr4:3445366-3445379
34	CTCF	chr4:3445280-3445430	HRE	kidney:	n/a	chr4:3445365-3445381 chr4:3445364-3445382 chr4:3445367-3445377 chr4:3445370-3445379 chr4:3445366-3445379 chr4:3445366-3445379
35	CTCF	chr4:3436600-3436750	HepG2	liver:	n/a	n/a
36	CTCF	chr4:3445320-3445470	HRPEpiC	eye:	n/a	chr4:3445365-3445381 chr4:3445364-3445382 chr4:3445367-3445377 chr4:3445370-3445379 chr4:3445366-3445379 chr4:3445366-3445379
37	CTCF	chr4:3420220-3420370	BJ	skin:	n/a	n/a
38	CTCF	chr4:3436600-3436750	HFF-Myc	foreskin:	n/a	n/a
39	CTCF	chr4:3436600-3436750	NB4	blood:	n/a	n/a
40	CTCF	chr4:3420200-3420350	GM12864	blood:	n/a	n/a
41	CTCF	chr4:3445247-3445551	GM20000	blood:	n/a	chr4:3445365-3445381 chr4:3445364-3445382 chr4:3445367-3445377 chr4:3445370-3445379 chr4:3445366-3445379 chr4:3445366-3445379
42	CTCF	chr4:3442660-3442810	HEEpiC	esophagus:	n/a	n/a
43	CTCF	chr4:3420260-3420410	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr4:3420220-3420370	GM12864	blood:	n/a	n/a
45	CTCF	chr4:3445260-3445410	GM12868	blood:	n/a	chr4:3445365-3445381 chr4:3445364-3445382 chr4:3445367-3445377 chr4:3445370-3445379 chr4:3445366-3445379 chr4:3445366-3445379
46	CTCF	chr4:3420260-3420410	BE2_C	brain:	n/a	n/a
47	CTCF	chr4:3436440-3436590	HCM	heart:	n/a	n/a
48	CTCF	chr4:3420273-3420367	HepG2	liver:	n/a	n/a
49	CTCF	chr4:3420260-3420410	BJ	skin:	n/a	n/a
50	CTCF	chr4:3420270-3420368	GM19239	blood:	n/a	n/a

(count:3482 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3431864-3431914	BJ	skin:	n/a
2	chr4:3425381-3425431	HRE	kidney:	n/a
3	chr4:3416881-3416931	HEEpiC	esophagus:	n/a
4	chr4:3435525-3435575	BE2_C	brain:	n/a
5	chr4:3418564-3418614	SK-N-SH	brain:	n/a
6	chr4:3431864-3431914	BJ	skin:	n/a
7	chr4:3425381-3425431	HRE	kidney:	n/a
8	chr4:3416881-3416931	HEEpiC	esophagus:	n/a
9	chr4:3435525-3435575	BE2_C	brain:	n/a
10	chr4:3418564-3418614	SK-N-SH	brain:	n/a
11	chr4:3416370-3416420	AG10803	skin:	n/a
12	chr4:3413614-3413664	RPTEC	kidney:	n/a
13	chr4:3415352-3415402	RPTEC	kidney:	n/a
14	chr4:3432342-3432392	HCPEpiC	choroid plexus:	n/a
15	chr4:3443025-3443075	HAEpiC	amniotic membrane:	n/a
16	chr4:3436168-3436218	K562	blood:	n/a
17	chr4:3424470-3424520	SAEC	small airway:	n/a
18	chr4:3415930-3415980	ProgFib	skin:	n/a
19	chr4:3415930-3415980	HCT-116	colon:	n/a
20	chr4:3426363-3426413	LNCaP	prostate:	n/a
21	chr4:3415135-3415185	Caco-2	colon:	n/a
22	chr4:3418911-3418961	NHBE	bronchial:	n/a
23	chr4:3443025-3443075	SAEC	small airway:	n/a
24	chr4:3415930-3415980	BE2_C	brain:	n/a
25	chr4:3425256-3425306	GM19239	blood:	n/a
26	chr4:3436404-3436454	NH-A	brain:	n/a
27	chr4:3431864-3431914	AG04450	lung:	fetal
28	chr4:3426363-3426413	ovcar-3	ovarian:	n/a
29	chr4:3433526-3433576	HEK293	kidney:	embryo
30	chr4:3413706-3413756	HMEC	breast:	n/a
31	chr4:3413706-3413756	U87	brain:	n/a
32	chr4:3425381-3425431	U87	brain:	n/a
33	chr4:3436168-3436218	HMEC	breast:	n/a
34	chr4:3443625-3443675	PANC-1	pancreas:	n/a
35	chr4:3417371-3417421	GM06990	blood:	n/a
36	chr4:3435449-3435499	LNCaP	prostate:	n/a
37	chr4:3432483-3432533	ProgFib	skin:	n/a
38	chr4:3436404-3436454	PrEC	prostate:	n/a
39	chr4:3417431-3417481	NHBE	bronchial:	n/a
40	chr4:3426363-3426413	HepG2	liver:	n/a
41	chr4:3414302-3414352	HEK293	kidney:	embryo
42	chr4:3418713-3418763	K562	blood:	n/a
43	chr4:3417371-3417421	AoSMC	blood vessel:	n/a
44	chr4:3415930-3415980	HNPCEpiC	eye:	n/a
45	chr4:3436404-3436454	AG09309	skin:	n/a
46	chr4:3436404-3436454	NHDF-neo	bronchial:	n/a
47	chr4:3416849-3416899	SK-N-SH_RA	brain:	n/a
48	chr4:3415812-3415862	ProgFib	skin:	n/a
49	chr4:3415930-3415980	GM19239	blood:	n/a
50	chr4:3443694-3443744	AG09319	gingival:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:3347496..3348411-chr4:3444927..3445862,6	K562	blood:
2	chr4:3422645..3425998-chr4:3426569..3431321,4	K562	blood:
3	chr4:3438758..3441335-chr4:3441966..3444505,4	MCF-7	breast:
4	chr4:3422645..3425998-chr4:3426569..3431321,4	K562	blood:
5	chr4:3403927..3406519-chr4:3415775..3417384,2	MCF-7	breast:
6	chr4:3402341..3405091-chr4:3416697..3418981,2	MCF-7	breast:
7	chr4:3417191..3419894-chr4:3434904..3438347,3	MCF-7	breast:
8	chr4:3416652..3419915-chr4:3441173..3444245,3	MCF-7	breast:
9	chr4:3387900..3390200-chr4:3439176..3442077,2	MCF-7	breast:
10	chr4:3428384..3430154-chr4:3434283..3437033,2	K562	blood:
11	chr4:3293753..3295526-chr4:3439987..3441578,2	MCF-7	breast:
12	chr4:3347483..3348481-chr4:3444797..3445914,9	MCF-7	breast:
13	chr4:3407565..3409961-chr4:3422127..3423905,2	K562	blood:
14	chr4:3418487..3420284-chr4:3426920..3428463,2	K562	blood:
15	chr4:3432116..3434989-chr4:3463177..3465142,2	MCF-7	breast:
16	chr4:3432863..3436671-chr4:3438111..3441622,5	K562	blood:
17	chr4:3418569..3420412-chr4:3484561..3487471,2	MCF-7	breast:
18	chr4:3401369..3402190-chr4:3444884..3445429,2	K562	blood:
19	chr4:3433662..3435560-chr4:3437260..3439057,2	MCF-7	breast:
20	chr4:3438186..3441523-chr4:3461903..3464658,4	MCF-7	breast:
21	chr4:3430343..3432771-chr4:3437903..3441095,3	K562	blood:
22	chr4:3437523..3439091-chr4:3448156..3450987,2	MCF-7	breast:
23	chr4:3340754..3343218-chr4:3436055..3438880,2	MCF-7	breast:
24	chr4:3415712..3418675-chr4:3431596..3433223,2	MCF-7	breast:
25	chr4:3432863..3436671-chr4:3438111..3441622,5	K562	blood:
26	chr4:3195267..3196266-chr4:3444903..3445887,5	MCF-7	breast:
27	chr4:3422937..3425880-chr4:3426569..3429789,3	K562	blood:
28	chr4:3419493..3422453-chr4:3423042..3425871,3	K562	blood:
29	chr4:3355212..3358066-chr4:3437874..3440532,4	MCF-7	breast:
30	chr4:3297878..3299647-chr4:3439847..3442316,2	MCF-7	breast:
31	chr4:3438145..3440558-chr4:3486054..3488354,2	MCF-7	breast:
32	chr4:3401381..3402237-chr4:3444863..3445577,2	MCF-7	breast:
33	chr4:3438822..3441284-chr4:3443467..3446994,3	K562	blood:
34	chr4:3387025..3388600-chr4:3411719..3414475,2	MCF-7	breast:
35	chr4:3439130..3442230-chr4:3483136..3486025,3	MCF-7	breast:
36	chr4:3428890..3430804-chr4:3441748..3443973,2	MCF-7	breast:
37	chr4:3433662..3435560-chr4:3437260..3439057,2	MCF-7	breast:
38	chr4:3444972..3445545-chr7:150654913..150655661,2	MCF-7	breast:
39	chr4:3351060..3353090-chr4:3436592..3439411,2	MCF-7	breast:
40	chr4:3416652..3419915-chr4:3441173..3444245,3	MCF-7	breast:
41	chr4:3401278..3402259-chr4:3444676..3445847,3	MCF-7	breast:
42	chr4:3438642..3440686-chr4:3450024..3452220,2	MCF-7	breast:
43	chr4:3444953..3445626-chr4:3481708..3482572,4	MCF-7	breast:
44	chr4:3439707..3441284-chr4:3443467..3445284,2	K562	blood:
45	chr4:3404717..3407147-chr4:3410675..3413759,3	MCF-7	breast:
46	chr4:3415712..3418675-chr4:3431596..3433223,2	MCF-7	breast:
47	chr4:3437849..3440325-chr4:3440402..3441941,2	MCF-7	breast:
48	chr4:3428890..3430804-chr4:3441748..3443973,2	MCF-7	breast:
49	chr4:3419493..3422453-chr4:3423042..3425871,3	K562	blood:
50	chr17:62399380..62400330-chr4:3422309..3422930,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS12-1	chr4:3429816-3429896	NONHSAT094871
2	lnc-RGS12-1	chr4:3441182-3441640	NONHSAT094871

No data

Variant related genes	Relation type
RGS12	TF binding region
HGFAC	TF binding region
RGS12	CpG island
HGFAC	CpG island
ENSG00000175920	chromatin interactions
ENSG00000109758	chromatin interactions
ENSG00000159788	chromatin interactions

Extended variants
information (count: 1798 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1798 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1320763	chr4:3413209-3413210	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535808727	chr4:3413242-3413243	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs549132849	chr4:3413254-3413255	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563731975	chr4:3413266-3413267	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566117287	chr4:3413296-3413297	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535131231	chr4:3413301-3413302	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183609859	chr4:3413311-3413312	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577153549	chr4:3413332-3413333	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188249048	chr4:3413356-3413357	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556455875	chr4:3413408-3413409	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73079009	chr4:3413413-3413414	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541780062	chr4:3413425-3413426	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555078408	chr4:3413429-3413430	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371526336	chr4:3413438-3413439	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571800615	chr4:3413446-3413447	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201432931	chr4:3413496-3413497	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370126804	chr4:3413497-3413498	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34187907	chr4:3413501-3413502	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534619535	chr4:3413538-3413539	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564319532	chr4:3413544-3413545	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572553814	chr4:3413584-3413585	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540902610	chr4:3413596-3413597	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192960151	chr4:3413606-3413607	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs1320762	chr4:3413613-3413614	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs74957803	chr4:3413614-3413615	Weak transcription Enhancers Strong transcription Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs529562421	chr4:3413630-3413631	Weak transcription Enhancers Strong transcription Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs111698376	chr4:3413634-3413635	Weak transcription Enhancers Strong transcription Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs370745032	chr4:3413635-3413636	Weak transcription Enhancers Strong transcription Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs566117726	chr4:3413650-3413651	Weak transcription Enhancers Strong transcription Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528590312	chr4:3413676-3413677	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183989241	chr4:3413683-3413684	Weak transcription Enhancers Strong transcription Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs570644130	chr4:3413722-3413723	Weak transcription Enhancers Strong transcription Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566268573	chr4:3413735-3413736	Weak transcription Enhancers Strong transcription Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs539608267	chr4:3413779-3413780	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556106793	chr4:3413784-3413785	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569892325	chr4:3413785-3413786	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535425215	chr4:3413812-3413813	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555340232	chr4:3413816-3413817	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150594324	chr4:3413851-3413852	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs36022344	chr4:3413868-3413869	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540712886	chr4:3413901-3413902	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs557400292	chr4:3413947-3413948	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs577342546	chr4:3413974-3413975	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs186828865	chr4:3414032-3414033	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs139234399	chr4:3414033-3414034	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs529580383	chr4:3414040-3414041	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs74501093	chr4:3414075-3414076	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs114227456	chr4:3414134-3414135	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs562952752	chr4:3414166-3414167	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528529250	chr4:3414186-3414187	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:919 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3390000-3417200	Weak transcription	Gastric	stomach
2	chr4:3391000-3414000	Weak transcription	Primary T cells from cord blood	blood
3	chr4:3391800-3424200	Weak transcription	Colonic Mucosa	Colon
4	chr4:3392000-3417200	Weak transcription	Pancreas	Pancrea
5	chr4:3399200-3432200	Weak transcription	Right Atrium	heart
6	chr4:3401600-3416200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:3401800-3416000	Weak transcription	Right Ventricle	heart
8	chr4:3403400-3417200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:3404800-3414200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:3405000-3415000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:3405200-3415800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:3405200-3418800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:3406400-3417200	Weak transcription	HMEC	breast
14	chr4:3406600-3413800	Weak transcription	Adipose Nuclei	Adipose
15	chr4:3406600-3417200	Weak transcription	HSMM	muscle
16	chr4:3406800-3415600	Weak transcription	Lung	lung
17	chr4:3406800-3417400	Weak transcription	Aorta	Aorta
18	chr4:3407200-3417200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:3407200-3417200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:3407200-3417800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:3407400-3415400	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:3407400-3417800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:3407600-3415400	Weak transcription	Fetal Heart	heart
24	chr4:3407600-3417200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:3407600-3418000	Weak transcription	Left Ventricle	heart
26	chr4:3407800-3417600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:3408200-3414000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:3408200-3416600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:3408600-3417200	Weak transcription	HSMMtube	muscle
30	chr4:3408800-3436600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:3409000-3415000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:3409000-3415200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:3409400-3417200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:3409600-3415400	Weak transcription	Fetal Lung	lung
35	chr4:3410400-3415800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr4:3410800-3413600	Genic enhancers	Esophagus	oesophagus
37	chr4:3410800-3413800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:3411000-3414000	Weak transcription	Fetal Stomach	stomach
39	chr4:3411000-3415200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:3411000-3415800	Weak transcription	Fetal Intestine Large	intestine
41	chr4:3411000-3416600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:3411000-3417800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:3411000-3436400	Strong transcription	Fetal Intestine Small	intestine
44	chr4:3411200-3436400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:3411200-3436600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:3411400-3425600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:3411600-3414000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr4:3411600-3414000	Weak transcription	Brain Anterior Caudate	brain
49	chr4:3411600-3415200	Weak transcription	Ovary	ovary
50	chr4:3411800-3413600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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