Variant report

Variant	esv1805737
Chromosome Location	chr4:3463452-3473639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr4:3469865-3471115	GM12878	blood:	n/a	n/a
2	BCL3	chr4:3469863-3470991	GM12878	blood:	n/a	n/a
3	BCL3	chr4:3469218-3469567	GM12878	blood:	n/a	n/a
4	BCL3	chr4:3469104-3469626	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:3469254-3469426	K562	blood:	n/a	n/a
6	BHLHE40	chr4:3471344-3471419	HepG2	liver:	n/a	n/a
7	BHLHE40	chr4:3472328-3472516	K562	blood:	n/a	n/a
8	BHLHE40	chr4:3472381-3472564	HepG2	liver:	n/a	n/a
9	CCNT2	chr4:3465851-3465998	K562	blood:	n/a	n/a
10	CHD2	chr4:3463166-3463490	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr4:3464168-3464354	HepG2	liver:	n/a	n/a
12	CREB1	chr4:3464885-3465183	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTBP2	chr4:3467895-3468531	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr4:3468131-3468298	K562	blood:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
15	CTCF	chr4:3468100-3468250	HCT-116	colon:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
16	CTCF	chr4:3467973-3468312	H1-hESC	embryonic stem cell:	n/a	chr4:3468077-3468090 chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
17	CTCF	chr4:3472240-3472390	SAEC	small airway:	n/a	n/a
18	CTCF	chr4:3468160-3468310	BE2_C	brain:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
19	CTCF	chr4:3468198-3468251	GM12891	blood:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
20	CTCF	chr4:3468120-3468270	AG04449	skin:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
21	CTCF	chr4:3468120-3468270	HepG2	liver:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
22	CTCF	chr4:3469869-3470164	GM19239	blood:	n/a	n/a
23	CTCF	chr4:3470205-3470215	GM19239	blood:	n/a	n/a
24	CTCF	chr4:3468100-3468250	HVMF	connective:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
25	CTCF	chr4:3467900-3468050	HAc	cerebellar:	n/a	n/a
26	CTCF	chr4:3468180-3468330	HEK293	kidney:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
27	CTCF	chr4:3468140-3468290	HCM	heart:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
28	CTCF	chr4:3467800-3467950	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr4:3470217-3470303	GM19239	blood:	n/a	n/a
30	CTCF	chr4:3468160-3468310	MCF-7	breast:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
31	CTCF	chr4:3468120-3468270	SK-N-SH_RA	brain:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
32	CTCF	chr4:3468140-3468290	AoAF	blood vessel:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
33	CTCF	chr4:3468120-3468270	NHDF-neo	bronchial:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
34	CTCF	chr4:3468200-3468350	RPTEC	kidney:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
35	CTCF	chr4:3468220-3468370	NHEK	skin:	n/a	n/a
36	CTCF	chr4:3468100-3468250	HEEpiC	esophagus:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
37	CTCF	chr4:3468140-3468290	HMEC	breast:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
38	CTCF	chr4:3468100-3468250	SAEC	small airway:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
39	CTCF	chr4:3468140-3468290	AG10803	skin:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
40	CTCF	chr4:3468180-3468330	A549	lung:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
41	CTCF	chr4:3468100-3468250	AG09309	skin:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
42	CTCF	chr4:3468074-3468324	HepG2	liver:	n/a	chr4:3468077-3468090 chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
43	CTCF	chr4:3468140-3468290	HVMF	connective:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
44	CTCF	chr4:3468220-3468370	HPF	lung:	n/a	n/a
45	CTCF	chr4:3468100-3468250	HBMEC	blood vessel:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
46	CTCF	chr4:3468160-3468286	MCF-7	breast:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
47	CTCF	chr4:3468054-3468355	K562	blood:	n/a	chr4:3468077-3468090 chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
48	CTCF	chr4:3468160-3468310	HRE	kidney:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
49	CTCF	chr4:3468140-3468290	HRPEpiC	eye:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220
50	CTCF	chr4:3468120-3468270	HFF-Myc	foreskin:	n/a	chr4:3468204-3468217 chr4:3468208-3468217 chr4:3468202-3468220

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3464754-3464804	SAEC	small airway:	n/a
2	chr4:3471397-3471447	LNCaP	prostate:	n/a
3	chr4:3464754-3464804	SAEC	small airway:	n/a
4	chr4:3471397-3471447	LNCaP	prostate:	n/a
5	chr4:3465064-3465114	HIPEpiC	eye:	n/a
6	chr4:3466246-3466296	HUVEC	blood vessel:	n/a
7	chr4:3473595-3473645	CMK	blood:	n/a
8	chr4:3464870-3464920	SAEC	small airway:	n/a
9	chr4:3471901-3471951	SK-N-MC	brain:	n/a
10	chr4:3464996-3465046	HMEC	breast:	n/a
11	chr4:3471397-3471447	T-47D	breast:	n/a
12	chr4:3468188-3468238	GM19239	blood:	n/a
13	chr4:3473450-3473500	SK-N-SH	brain:	n/a
14	chr4:3465004-3465054	RPTEC	kidney:	n/a
15	chr4:3464998-3465048	IMR90	lung:	fetal
16	chr4:3471816-3471866	SK-N-MC	brain:	n/a
17	chr4:3464996-3465046	LNCaP	prostate:	n/a
18	chr4:3473595-3473645	HEK293	kidney:	embryo
19	chr4:3472071-3472121	AG09309	skin:	n/a
20	chr4:3473232-3473282	SK-N-SH_RA	brain:	n/a
21	chr4:3468188-3468238	NHDF-neo	bronchial:	n/a
22	chr4:3464870-3464920	Hepatocyte	liver:	n/a
23	chr4:3464653-3464703	NT2-D1	testis:	n/a
24	chr4:3465367-3465417	NH-A	brain:	n/a
25	chr4:3473450-3473500	Hela-S3	cervix:	n/a
26	chr4:3468649-3468699	SKMC	muscle:	n/a
27	chr4:3464996-3465046	ovcar-3	ovarian:	n/a
28	chr4:3464870-3464920	HRE	kidney:	n/a
29	chr4:3473232-3473282	ProgFib	skin:	n/a
30	chr4:3464870-3464920	HIPEpiC	eye:	n/a
31	chr4:3464887-3464937	U87	brain:	n/a
32	chr4:3469040-3469090	SK-N-SH	brain:	n/a
33	chr4:3471901-3471951	HCM	heart:	n/a
34	chr4:3464754-3464804	NT2-D1	testis:	n/a
35	chr4:3464653-3464703	AG09309	skin:	n/a
36	chr4:3473450-3473500	HAEpiC	amniotic membrane:	n/a
37	chr4:3464754-3464804	HCPEpiC	choroid plexus:	n/a
38	chr4:3468649-3468699	HPAEpiC	pulmonary alveolar:	n/a
39	chr4:3464996-3465046	HAEpiC	amniotic membrane:	n/a
40	chr4:3473232-3473282	SK-N-SH	brain:	n/a
41	chr4:3466246-3466296	HEEpiC	esophagus:	n/a
42	chr4:3471901-3471951	LNCaP	prostate:	n/a
43	chr4:3464998-3465048	GM12892	blood:	n/a
44	chr4:3464874-3464924	U87	brain:	n/a
45	chr4:3466246-3466296	SK-N-MC	brain:	n/a
46	chr4:3468188-3468238	BE2_C	brain:	n/a
47	chr4:3464874-3464924	GM12891	blood:	n/a
48	chr4:3473232-3473282	HCT-116	colon:	n/a
49	chr4:3464887-3464937	NB4	blood:	n/a
50	chr4:3472071-3472121	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:3231157..3234122-chr4:3467560..3470032,2	MCF-7	breast:
2	chr4:3464614..3465179-chr4:3486100..3486697,2	MCF-7	breast:
3	chr4:3462755..3463727-chr4:3486334..3487219,3	MCF-7	breast:
4	chr4:3287264..3290154-chr4:3470213..3472155,2	MCF-7	breast:
5	chr4:3464468..3466347-chr4:3532849..3534407,2	MCF-7	breast:
6	chr4:3113077..3115750-chr4:3467353..3469747,2	MCF-7	breast:
7	chr4:3428894..3431544-chr4:3462169..3465013,2	MCF-7	breast:
8	chr4:3346041..3348825-chr4:3461682..3464499,2	MCF-7	breast:
9	chr4:3462844..3463532-chr4:3486166..3487066,3	MCF-7	breast:
10	chr11:61737950..61740369-chr4:3461504..3464468,2	MCF-7	breast:
11	chr11:3078361..3079999-chr4:3467036..3469656,2	MCF-7	breast:
12	chr4:3343221..3349626-chr4:3462156..3471133,16	MCF-7	breast:
13	chr4:3471602..3475518-chr4:3476351..3479966,4	K562	blood:
14	chr4:3076153..3077682-chr4:3463023..3464527,2	MCF-7	breast:
15	chr4:3465519..3467686-chr4:3526203..3530625,4	MCF-7	breast:
16	chr4:3292471..3295854-chr4:3462941..3467927,8	MCF-7	breast:
17	chr4:3294365..3296058-chr4:3468605..3470363,2	MCF-7	breast:
18	chr4:3462755..3463804-chr4:3486304..3487219,5	MCF-7	breast:
19	chr4:3464667..3465179-chr4:3486678..3487324,2	MCF-7	breast:
20	chr4:3464939..3465859-chr4:3486070..3487026,3	MCF-7	breast:
21	chr4:3464629..3465770-chr4:3486550..3487347,4	MCF-7	breast:
22	chr4:3438186..3441523-chr4:3461903..3464658,4	MCF-7	breast:
23	chr4:3365688..3366496-chr4:3463170..3464043,2	MCF-7	breast:
24	chr4:3110927..3117533-chr4:3461507..3465762,15	MCF-7	breast:
25	chr4:3075047..3077442-chr4:3472520..3475162,3	K562	blood:

Variant related genes	Relation type
DOK7	TF binding region
DOK7	CpG island
ENSG00000251075	chromatin interactions
ENSG00000159788	chromatin interactions
ENSG00000175920	chromatin interactions
ENSG00000110619	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000197386	chromatin interactions

Extended variants
information (count: 630 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:630 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1203104	chr4:3463452-3463453	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540431247	chr4:3463465-3463466	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs371641822	chr4:3463471-3463472	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs577585494	chr4:3463476-3463477	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs28478452	chr4:3463477-3463478	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs562847500	chr4:3463512-3463513	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs372360437	chr4:3463517-3463518	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs112154913	chr4:3463521-3463522	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs542300081	chr4:3463522-3463523	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs561999793	chr4:3463546-3463547	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs28413474	chr4:3463603-3463604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546446627	chr4:3463605-3463606	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs566343389	chr4:3463631-3463632	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs532257387	chr4:3463632-3463633	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs138728321	chr4:3463637-3463638	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs568512320	chr4:3463645-3463646	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs188257066	chr4:3463646-3463647	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs12649183	chr4:3463658-3463659	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs554562505	chr4:3463691-3463692	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs180776282	chr4:3463711-3463712	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs533910965	chr4:3463715-3463716	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs554373228	chr4:3463716-3463717	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs7667834	chr4:3463727-3463728	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs537071798	chr4:3463746-3463747	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs546515357	chr4:3463778-3463779	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs556936614	chr4:3463794-3463795	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs184950590	chr4:3463796-3463797	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs149365364	chr4:3463832-3463833	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs143721670	chr4:3463834-3463835	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs527747740	chr4:3463838-3463839	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs541160976	chr4:3463862-3463863	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs377071133	chr4:3463876-3463877	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs1203103	chr4:3463882-3463883	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs532222981	chr4:3463900-3463901	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs73195114	chr4:3463941-3463942	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs148131143	chr4:3463942-3463943	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs531636945	chr4:3463949-3463950	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs547849203	chr4:3463955-3463956	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs115561442	chr4:3463988-3463989	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs368012814	chr4:3463995-3463996	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs78854609	chr4:3463996-3463997	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs372017046	chr4:3464028-3464029	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs553954750	chr4:3464037-3464038	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs74572651	chr4:3464038-3464039	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs539997775	chr4:3464057-3464058	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs556797987	chr4:3464070-3464071	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs576630064	chr4:3464074-3464075	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs190986263	chr4:3464075-3464076	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs372710500	chr4:3464105-3464106	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs146131954	chr4:3464109-3464110	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3462000-3463800	Enhancers	HSMMtube	muscle
2	chr4:3462000-3464000	Enhancers	Fetal Muscle Leg	muscle
3	chr4:3462400-3463600	Enhancers	HSMM	muscle
4	chr4:3462400-3463800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr4:3462400-3464800	Enhancers	Pancreas	Pancrea
6	chr4:3462600-3464000	Enhancers	Stomach Mucosa	stomach
7	chr4:3462600-3464200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:3462600-3464200	Enhancers	Stomach Smooth Muscle	stomach
9	chr4:3462600-3464600	Enhancers	Gastric	stomach
10	chr4:3462600-3464600	Enhancers	Right Ventricle	heart
11	chr4:3462600-3464800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:3462600-3464800	Enhancers	Fetal Heart	heart
13	chr4:3462600-3464800	Enhancers	Left Ventricle	heart
14	chr4:3462600-3465000	Enhancers	HMEC	breast
15	chr4:3462600-3465800	Enhancers	Liver	Liver
16	chr4:3462800-3463800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:3462800-3463800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
18	chr4:3462800-3463800	Enhancers	Aorta	Aorta
19	chr4:3462800-3463800	Enhancers	Esophagus	oesophagus
20	chr4:3462800-3464400	Enhancers	Lung	lung
21	chr4:3462800-3464800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr4:3463000-3464000	Enhancers	Duodenum Mucosa	Duodenum
23	chr4:3463000-3464000	Enhancers	Psoas Muscle	Psoas
24	chr4:3463000-3464800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:3463000-3464800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr4:3463200-3463600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:3463200-3464200	Bivalent Enhancer	Colonic Mucosa	Colon
28	chr4:3463200-3464200	Enhancers	GM12878-XiMat	blood
29	chr4:3463200-3465600	Bivalent Enhancer	Placenta	Placenta
30	chr4:3463400-3463600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:3463400-3463600	Bivalent Enhancer	Fetal Stomach	stomach
32	chr4:3463400-3463800	Enhancers	Fetal Brain Male	brain
33	chr4:3463400-3463800	Bivalent Enhancer	HepG2	liver
34	chr4:3463400-3464200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:3463400-3464800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr4:3463400-3464800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr4:3463400-3465000	Enhancers	Hela-S3	cervix
38	chr4:3463400-3465000	Bivalent Enhancer	NHEK	skin
39	chr4:3463600-3463800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:3463600-3464000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:3463600-3464600	Flanking Active TSS	HSMM	muscle
42	chr4:3463600-3464800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:3463800-3464000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:3463800-3464000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr4:3463800-3464000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
46	chr4:3463800-3464000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr4:3463800-3464000	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr4:3463800-3464200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
49	chr4:3463800-3464600	Weak transcription	Aorta	Aorta
50	chr4:3463800-3464800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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