Variant report

Variant	esv2757031
Chromosome Location	chr4:3472162-3510598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1035)
CpG islands
(count:2928)
Chromatin interactive
region (count:68)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1035 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:3482260-3482611	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr4:3482298-3482759	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr4:3496152-3496215	K562	blood:	n/a	n/a
4	BACH1	chr4:3482512-3482601	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr4:3482323-3482523	K562	blood:	n/a	n/a
6	BATF	chr4:3491237-3491472	GM12878	blood:	n/a	n/a
7	BCL3	chr4:3475204-3475428	GM12878	blood:	n/a	n/a
8	BCL3	chr4:3475144-3475461	GM12878	blood:	n/a	n/a
9	BCL3	chr4:3508714-3509066	GM12878	blood:	n/a	n/a
10	BHLHE40	chr4:3472381-3472564	HepG2	liver:	n/a	n/a
11	BHLHE40	chr4:3480551-3480684	K562	blood:	n/a	n/a
12	BHLHE40	chr4:3478312-3478492	HepG2	liver:	n/a	n/a
13	BHLHE40	chr4:3486390-3486566	GM12878	blood:	n/a	n/a
14	BHLHE40	chr4:3472328-3472516	K562	blood:	n/a	n/a
15	BHLHE40	chr4:3486975-3487201	GM12878	blood:	n/a	n/a
16	BHLHE40	chr4:3482294-3482545	K562	blood:	n/a	n/a
17	BHLHE40	chr4:3482383-3482568	GM12878	blood:	n/a	n/a
18	BHLHE40	chr4:3496279-3496546	HepG2	liver:	n/a	chr4:3496388-3496404
19	BHLHE40	chr4:3479250-3479561	HepG2	liver:	n/a	chr4:3479409-3479418 chr4:3479409-3479418 chr4:3479408-3479417 chr4:3479403-3479424
20	BHLHE40	chr4:3501057-3501246	K562	blood:	n/a	n/a
21	BHLHE40	chr4:3491263-3491395	GM12878	blood:	n/a	n/a
22	BHLHE40	chr4:3479316-3479464	K562	blood:	n/a	chr4:3479409-3479418 chr4:3479409-3479418 chr4:3479408-3479417 chr4:3479403-3479424
23	BHLHE40	chr4:3482321-3482582	HepG2	liver:	n/a	n/a
24	BRCA1	chr4:3482384-3482586	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr4:3482275-3482539	H1-hESC	embryonic stem cell:	n/a	n/a
26	CBX3	chr4:3482279-3482637	K562	blood:	n/a	n/a
27	CCNT2	chr4:3499800-3499935	K562	blood:	n/a	n/a
28	CCNT2	chr4:3503956-3504114	K562	blood:	n/a	chr4:3504025-3504034
29	CCNT2	chr4:3482381-3482557	K562	blood:	n/a	n/a
30	CCNT2	chr4:3499440-3499519	K562	blood:	n/a	n/a
31	CCNT2	chr4:3480418-3480529	K562	blood:	n/a	n/a
32	CEBPB	chr4:3482210-3482696	ECC-1	luminal epithelium:	n/a	n/a
33	CEBPB	chr4:3482226-3482506	MCF-7	breast:	n/a	n/a
34	CEBPB	chr4:3482295-3482572	HepG2	liver:	n/a	n/a
35	CEBPB	chr4:3482293-3482579	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr4:3482236-3482560	K562	blood:	n/a	n/a
37	CEBPB	chr4:3482254-3482576	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr4:3482224-3482577	IMR90	lung:	n/a	n/a
39	CEBPB	chr4:3485772-3486821	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPB	chr4:3482279-3482561	A549	lung:	n/a	n/a
41	CEBPB	chr4:3506326-3506475	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr4:3482205-3482557	K562	blood:	n/a	n/a
43	CEBPB	chr4:3493665-3493953	IMR90	lung:	n/a	n/a
44	CEBPB	chr4:3506327-3506529	IMR90	lung:	n/a	n/a
45	CEBPD	chr4:3498169-3498383	HepG2	liver:	n/a	n/a
46	CHD1	chr4:3482157-3482731	IMR90	lung:	n/a	n/a
47	CHD2	chr4:3486506-3486633	GM12878	blood:	n/a	n/a
48	CHD2	chr4:3496377-3496397	K562	blood:	n/a	n/a
49	CHD2	chr4:3482842-3483195	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr4:3482312-3482602	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2928 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3485326-3485376	SK-N-SH_RA	brain:	n/a
2	chr4:3475093-3475143	HCM	heart:	n/a
3	chr4:3503528-3503578	ovcar-3	ovarian:	n/a
4	chr4:3482507-3482557	HRE	kidney:	n/a
5	chr4:3473232-3473282	ProgFib	skin:	n/a
6	chr4:3485263-3485313	PrEC	prostate:	n/a
7	chr4:3486380-3486430	IMR90	lung:	fetal
8	chr4:3489931-3489981	GM06990	blood:	n/a
9	chr4:3502575-3502625	ECC-1	luminal epithelium:	n/a
10	chr4:3475093-3475143	PFSK-1	brain:	n/a
11	chr4:3486204-3486254	BE2_C	brain:	n/a
12	chr4:3475233-3475283	LNCaP	prostate:	n/a
13	chr4:3489931-3489981	MCF-7	breast:	n/a
14	chr4:3482507-3482557	RPTEC	kidney:	n/a
15	chr4:3475233-3475283	HCPEpiC	choroid plexus:	n/a
16	chr4:3480656-3480706	BJ	skin:	n/a
17	chr4:3499546-3499596	Caco-2	colon:	n/a
18	chr4:3486039-3486089	HCPEpiC	choroid plexus:	n/a
19	chr4:3504980-3505030	HMEC	breast:	n/a
20	chr4:3502575-3502625	GM12878	blood:	n/a
21	chr4:3499546-3499596	SKMC	muscle:	n/a
22	chr4:3475328-3475378	AG09309	skin:	n/a
23	chr4:3499546-3499596	NB4	blood:	n/a
24	chr4:3485393-3485443	K562	blood:	n/a
25	chr4:3486380-3486430	AG09319	gingival:	n/a
26	chr4:3507188-3507238	T-47D	breast:	n/a
27	chr4:3475262-3475312	HUVEC	blood vessel:	n/a
28	chr4:3486204-3486254	GM12878	blood:	n/a
29	chr4:3487334-3487384	SK-N-MC	brain:	n/a
30	chr4:3502518-3502568	HRPEpiC	eye:	n/a
31	chr4:3502575-3502625	MCF-7	breast:	n/a
32	chr4:3475233-3475283	GM19239	blood:	n/a
33	chr4:3503528-3503578	HepG2	liver:	n/a
34	chr4:3473737-3473787	HepG2	liver:	n/a
35	chr4:3473595-3473645	HEK293	kidney:	embryo
36	chr4:3480318-3480368	GM12892	blood:	n/a
37	chr4:3478064-3478114	ECC-1	luminal epithelium:	n/a
38	chr4:3475093-3475143	LNCaP	prostate:	n/a
39	chr4:3487334-3487384	GM12892	blood:	n/a
40	chr4:3507205-3507255	HRCEpiC	kidney:	n/a
41	chr4:3485263-3485313	AG09319	gingival:	n/a
42	chr4:3475328-3475378	HCM	heart:	n/a
43	chr4:3486204-3486254	HRE	kidney:	n/a
44	chr4:3480318-3480368	AG04449	skin:	fetal
45	chr4:3473737-3473787	HCT-116	colon:	n/a
46	chr4:3485393-3485443	HepG2	liver:	n/a
47	chr4:3475328-3475378	HAEpiC	amniotic membrane:	n/a
48	chr4:3505042-3505092	PrEC	prostate:	n/a
49	chr4:3505905-3505955	SK-N-SH_RA	brain:	n/a
50	chr4:3484049-3484099	HRE	kidney:	n/a

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:3499355..3501891-chr4:3505956..3508239,2	K562	blood:
2	chr4:3491033..3494897-chr4:3496204..3500010,5	K562	blood:
3	chr4:3484714..3487220-chr4:3532599..3535251,4	MCF-7	breast:
4	chr4:3484197..3487656-chr4:3491883..3496058,4	K562	blood:
5	chr4:3346980..3350932-chr4:3475951..3478417,3	MCF-7	breast:
6	chr4:3481541..3484039-chr4:3515010..3518175,3	MCF-7	breast:
7	chr4:3498309..3502581-chr4:3507036..3510283,5	MCF-7	breast:
8	chr4:3484197..3487656-chr4:3491883..3496058,4	K562	blood:
9	chr4:3500184..3501840-chr4:3502540..3504182,2	MCF-7	breast:
10	chr4:3481517..3483185-chr4:3946552..3949445,2	MCF-7	breast:
11	chr4:3372799..3374407-chr4:3477096..3479436,2	MCF-7	breast:
12	chr4:3292637..3295776-chr4:3483843..3488274,4	MCF-7	breast:
13	chr4:3502316..3505177-chr4:3506173..3509072,3	MCF-7	breast:
14	chr4:3500639..3503471-chr4:3531403..3534143,3	K562	blood:
15	chr4:3344785..3347772-chr4:3481036..3482952,2	MCF-7	breast:
16	chr4:3500336..3503326-chr4:3533188..3535879,5	MCF-7	breast:
17	chr4:3505996..3508502-chr4:3532623..3535240,2	MCF-7	breast:
18	chr4:3464939..3465859-chr4:3486070..3487026,3	MCF-7	breast:
19	chr4:3478548..3481215-chr4:3487290..3489311,2	K562	blood:
20	chr4:3510589..3512915-chr4:3532511..3535420,4	K562	blood:
21	chr4:3501592..3503192-chr4:3503261..3504809,2	MCF-7	breast:
22	chr4:3495267..3497538-chr4:3499931..3501588,2	K562	blood:
23	chr4:3444953..3445626-chr4:3481708..3482572,4	MCF-7	breast:
24	chr4:3481020..3484183-chr4:3488790..3491004,5	K562	blood:
25	chr4:3501592..3503192-chr4:3503261..3504809,2	MCF-7	breast:
26	chr4:3439130..3442230-chr4:3483136..3486025,3	MCF-7	breast:
27	chr4:3320217..3323147-chr4:3474744..3477107,2	MCF-7	breast:
28	chr4:3471602..3475518-chr4:3476351..3479966,4	K562	blood:
29	chr4:3509156..3510726-chr4:3517866..3519837,2	K562	blood:
30	chr4:3478548..3481215-chr4:3487290..3489311,2	K562	blood:
31	chr4:3500184..3501840-chr4:3502540..3504182,2	MCF-7	breast:
32	chr4:3354072..3356995-chr4:3479067..3480969,2	MCF-7	breast:
33	chr4:3490007..3491895-chr4:3517979..3519812,2	K562	blood:
34	chr4:3485927..3488368-chr4:3533732..3536345,3	MCF-7	breast:
35	chr4:3483725..3485778-chr4:3827881..3829780,2	MCF-7	breast:
36	chr4:3347603..3348412-chr4:3481940..3482894,2	MCF-7	breast:
37	chr4:3489490..3491516-chr4:3532625..3534130,2	K562	blood:
38	chr4:3507434..3509576-chr4:3524898..3527608,2	K562	blood:
39	chr4:3293993..3296488-chr4:3491954..3495229,3	MCF-7	breast:
40	chr4:3502958..3505472-chr4:3506122..3508605,2	K562	blood:
41	chr4:3487684..3490277-chr4:3491908..3495748,6	K562	blood:
42	chr4:3495965..3498998-chr4:3502013..3504996,4	K562	blood:
43	chr4:3108064..3109057-chr4:3481789..3482473,3	K562	blood:
44	chr4:3497012..3500128-chr4:3532348..3534141,3	K562	blood:
45	chr4:3464614..3465179-chr4:3486100..3486697,2	MCF-7	breast:
46	chr4:3464667..3465179-chr4:3486678..3487324,2	MCF-7	breast:
47	chr4:3292635..3294292-chr4:3500969..3502505,2	MCF-7	breast:
48	chr4:3499074..3501837-chr4:3515567..3517558,2	K562	blood:
49	chr4:3082342..3084920-chr4:3490322..3492500,2	K562	blood:
50	chr4:3471602..3475518-chr4:3476351..3479966,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRPAP1-4	chr4:3480710-3483420	ucscGeneNc_uc003ghh_2

No data

Variant related genes	Relation type
DOK7	TF binding region
ENSG00000261643	TF binding region
DOK7	CpG island
ENSG00000261643	CpG island
ENSG00000261643	chromatin interactions
ENSG00000175920	chromatin interactions
ENSG00000159788	chromatin interactions
ENSG00000109758	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000197386	chromatin interactions
ENSG00000251075	chromatin interactions

Extended variants
information (count: 2705 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:2705 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41493052	chr4:3472162-3472163	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554007894	chr4:3472202-3472203	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs138324861	chr4:3472213-3472214	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs149650621	chr4:3472216-3472217	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs576110511	chr4:3472217-3472218	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs181768398	chr4:3472234-3472235	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs554339264	chr4:3472256-3472257	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs186126245	chr4:3472261-3472262	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs540062579	chr4:3472271-3472272	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs560348638	chr4:3472306-3472307	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs532326920	chr4:3472307-3472308	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs2344206	chr4:3472322-3472323	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs367625558	chr4:3472325-3472326	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs76613274	chr4:3472334-3472335	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs548352762	chr4:3472337-3472338	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs74705472	chr4:3472350-3472351	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs190595644	chr4:3472365-3472366	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs2344207	chr4:3472366-3472367	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs375306970	chr4:3472367-3472368	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs571087970	chr4:3472397-3472398	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs367905697	chr4:3472403-3472404	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575942675	chr4:3472492-3472493	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372397300	chr4:3472566-3472567	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs373794824	chr4:3472602-3472603	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569760832	chr4:3472615-3472616	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs142738306	chr4:3472626-3472627	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs555401112	chr4:3472647-3472648	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs572210210	chr4:3472660-3472661	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs73793903	chr4:3472671-3472672	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs376983214	chr4:3472728-3472729	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570960208	chr4:3472767-3472768	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs181418179	chr4:3472773-3472774	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs139596020	chr4:3472817-3472818	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs370016219	chr4:3472823-3472824	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs545808731	chr4:3472841-3472842	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs543059613	chr4:3472879-3472880	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs531378015	chr4:3472880-3472881	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs142605115	chr4:3472903-3472904	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs114655327	chr4:3472940-3472941	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs6850707	chr4:3473007-3473008	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs150575328	chr4:3473065-3473066	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs10007119	chr4:3473066-3473067	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs533672208	chr4:3473083-3473084	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs550100608	chr4:3473122-3473123	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs570022526	chr4:3473138-3473139	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs6831256	chr4:3473139-3473140	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
47	rs139600507	chr4:3473218-3473219	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs372767411	chr4:3473220-3473221	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs60161752	chr4:3473233-3473234	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10007223	chr4:3473246-3473247	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1247 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3466400-3482400	Weak transcription	Right Atrium	heart
2	chr4:3467000-3493600	Weak transcription	Aorta	Aorta
3	chr4:3467600-3473000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:3468600-3478400	Weak transcription	HSMMtube	muscle
5	chr4:3468800-3475000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:3468800-3486400	Weak transcription	Psoas Muscle	Psoas
7	chr4:3469200-3473200	Enhancers	Right Ventricle	heart
8	chr4:3469400-3472800	Genic enhancers	HSMM	muscle
9	chr4:3469800-3475400	Enhancers	Pancreas	Pancrea
10	chr4:3470200-3473000	Enhancers	Left Ventricle	heart
11	chr4:3470800-3472800	Enhancers	Fetal Muscle Leg	muscle
12	chr4:3470800-3473000	Enhancers	Fetal Muscle Trunk	muscle
13	chr4:3470800-3475000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:3470800-3478800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:3471000-3472600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:3471000-3473000	Enhancers	Fetal Heart	heart
17	chr4:3471000-3474800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
18	chr4:3471400-3472400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:3471600-3472200	Bivalent Enhancer	HepG2	liver
20	chr4:3471800-3473000	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr4:3471800-3473200	Bivalent Enhancer	Fetal Stomach	stomach
22	chr4:3471800-3473200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:3472000-3472200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:3472000-3472800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:3472000-3472800	Bivalent Enhancer	NHEK	skin
26	chr4:3472000-3473000	Enhancers	Gastric	stomach
27	chr4:3472200-3472400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
28	chr4:3472200-3472400	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr4:3472200-3472600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:3472200-3473000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:3472400-3472600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:3472600-3473000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:3472600-3473000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
34	chr4:3472600-3475000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:3472600-3475000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:3472800-3473800	Strong transcription	HSMM	muscle
37	chr4:3472800-3474800	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:3473000-3473800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:3473000-3474400	Weak transcription	Fetal Heart	heart
40	chr4:3473000-3474400	Weak transcription	Left Ventricle	heart
41	chr4:3473000-3475200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:3473000-3475200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr4:3473000-3478800	Weak transcription	Gastric	stomach
44	chr4:3473200-3473600	Weak transcription	Right Ventricle	heart
45	chr4:3473200-3473800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:3473600-3473800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:3473600-3473800	Enhancers	Right Ventricle	heart
48	chr4:3473600-3474000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:3473800-3474000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:3473800-3474000	Weak transcription	Right Ventricle	heart

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