Variant report

Variant	nsv461171
Chromosome Location	chr4:3485786-3522683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:809)
CpG islands
(count:4094)
Chromatin interactive
region (count:69)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:809 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:3496152-3496215	K562	blood:	n/a	n/a
2	BATF	chr4:3491237-3491472	GM12878	blood:	n/a	n/a
3	BCL11A	chr4:3510967-3511421	GM12878	blood:	n/a	n/a
4	BCL3	chr4:3512247-3512618	GM12878	blood:	n/a	n/a
5	BCL3	chr4:3508714-3509066	GM12878	blood:	n/a	n/a
6	BCL3	chr4:3512243-3512645	GM12878	blood:	n/a	n/a
7	BHLHE40	chr4:3501057-3501246	K562	blood:	n/a	n/a
8	BHLHE40	chr4:3486975-3487201	GM12878	blood:	n/a	n/a
9	BHLHE40	chr4:3496279-3496546	HepG2	liver:	n/a	chr4:3496388-3496404
10	BHLHE40	chr4:3486390-3486566	GM12878	blood:	n/a	n/a
11	BHLHE40	chr4:3491263-3491395	GM12878	blood:	n/a	n/a
12	CCNT2	chr4:3499800-3499935	K562	blood:	n/a	n/a
13	CCNT2	chr4:3516631-3516822	K562	blood:	n/a	n/a
14	CCNT2	chr4:3499440-3499519	K562	blood:	n/a	n/a
15	CCNT2	chr4:3503956-3504114	K562	blood:	n/a	chr4:3504025-3504034
16	CEBPB	chr4:3485772-3486821	ECC-1	luminal epithelium:	n/a	n/a
17	CEBPB	chr4:3493665-3493953	IMR90	lung:	n/a	n/a
18	CEBPB	chr4:3506326-3506475	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr4:3506327-3506529	IMR90	lung:	n/a	n/a
20	CEBPD	chr4:3498169-3498383	HepG2	liver:	n/a	n/a
21	CHD2	chr4:3486077-3486391	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr4:3496377-3496397	K562	blood:	n/a	n/a
23	CHD2	chr4:3498169-3498177	HepG2	liver:	n/a	n/a
24	CHD2	chr4:3486506-3486633	GM12878	blood:	n/a	n/a
25	CHD2	chr4:3486927-3487016	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr4:3486913-3487328	GM12878	blood:	n/a	n/a
27	CREB1	chr4:3485934-3486768	ECC-1	luminal epithelium:	n/a	n/a
28	CREB1	chr4:3485896-3486689	ECC-1	luminal epithelium:	n/a	n/a
29	CTCF	chr4:3516667-3516842	IMR90	lung:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
30	CTCF	chr4:3488620-3488770	SAEC	small airway:	n/a	chr4:3488719-3488740 chr4:3488722-3488730 chr4:3488717-3488735
31	CTCF	chr4:3516649-3516768	Spleen_OC	spleen:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
32	CTCF	chr4:3516680-3516830	HCT-116	colon:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
33	CTCF	chr4:3516560-3516710	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr4:3505337-3505413	GM20000	blood:	n/a	n/a
35	CTCF	chr4:3516600-3516750	HEK293	kidney:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
36	CTCF	chr4:3516660-3516810	GM12870	blood:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
37	CTCF	chr4:3516500-3516650	GM12872	blood:	n/a	n/a
38	CTCF	chr4:3516574-3516861	K562	blood:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
39	CTCF	chr4:3516600-3516750	A549	lung:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
40	CTCF	chr4:3519052-3519163	MCF-7	breast:	n/a	n/a
41	CTCF	chr4:3516600-3516750	HPAF	blood vessel:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
42	CTCF	chr4:3486294-3486304	MCF-7	breast:	n/a	n/a
43	CTCF	chr4:3516600-3516750	HA-sp	spinal cord:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
44	CTCF	chr4:3485895-3486036	NHEK	skin:	n/a	n/a
45	CTCF	chr4:3516680-3516830	HRE	kidney:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
46	CTCF	chr4:3516600-3516750	HPF	lung:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
47	CTCF	chr4:3516512-3516889	H1-hESC	embryonic stem cell:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
48	CTCF	chr4:3516625-3516795	SK-N-SH_RA	brain:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
49	CTCF	chr4:3516580-3516730	NHDF-neo	bronchial:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
50	CTCF	chr4:3516380-3517031	A549	lung:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716

(count:4094 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3520691-3520741	HL-60	blood:	n/a
2	chr4:3520716-3520766	GM12878	blood:	n/a
3	chr4:3514290-3514340	HEK293	kidney:	embryo
4	chr4:3495242-3495292	Jurkat	blood:	n/a
5	chr4:3521753-3521803	HRCEpiC	kidney:	n/a
6	chr4:3514540-3514590	BE2_C	brain:	n/a
7	chr4:3505128-3505178	K562	blood:	n/a
8	chr4:3520691-3520741	HL-60	blood:	n/a
9	chr4:3520716-3520766	GM12878	blood:	n/a
10	chr4:3514290-3514340	HEK293	kidney:	embryo
11	chr4:3495242-3495292	Jurkat	blood:	n/a
12	chr4:3521753-3521803	HRCEpiC	kidney:	n/a
13	chr4:3514540-3514590	BE2_C	brain:	n/a
14	chr4:3505128-3505178	K562	blood:	n/a
15	chr4:3517885-3517935	PANC-1	pancreas:	n/a
16	chr4:3487164-3487214	HPAEpiC	pulmonary alveolar:	n/a
17	chr4:3500688-3500738	K562	blood:	n/a
18	chr4:3504980-3505030	HepG2	liver:	n/a
19	chr4:3516692-3516742	Hepatocyte	liver:	n/a
20	chr4:3513990-3514040	ProgFib	skin:	n/a
21	chr4:3512607-3512657	HCPEpiC	choroid plexus:	n/a
22	chr4:3514800-3514850	PFSK-1	brain:	n/a
23	chr4:3507205-3507255	HEK293	kidney:	embryo
24	chr4:3521481-3521531	IMR90	lung:	fetal
25	chr4:3521738-3521788	AoSMC	blood vessel:	n/a
26	chr4:3516534-3516584	HRCEpiC	kidney:	n/a
27	chr4:3512607-3512657	GM12892	blood:	n/a
28	chr4:3520691-3520741	NT2-D1	testis:	n/a
29	chr4:3522139-3522189	SK-N-SH	brain:	n/a
30	chr4:3513846-3513896	T-47D	breast:	n/a
31	chr4:3520016-3520066	NB4	blood:	n/a
32	chr4:3514540-3514590	HAEpiC	amniotic membrane:	n/a
33	chr4:3522186-3522236	SKMC	muscle:	n/a
34	chr4:3494883-3494933	K562	blood:	n/a
35	chr4:3514709-3514759	HEEpiC	esophagus:	n/a
36	chr4:3505128-3505178	GM12878	blood:	n/a
37	chr4:3507188-3507238	GM06990	blood:	n/a
38	chr4:3499546-3499596	SK-N-MC	brain:	n/a
39	chr4:3505042-3505092	SK-N-MC	brain:	n/a
40	chr4:3486380-3486430	Jurkat	blood:	n/a
41	chr4:3510683-3510733	AG09319	gingival:	n/a
42	chr4:3514290-3514340	SK-N-SH	brain:	n/a
43	chr4:3510723-3510773	SAEC	small airway:	n/a
44	chr4:3486204-3486254	HUVEC	blood vessel:	n/a
45	chr4:3516534-3516584	AG09319	gingival:	n/a
46	chr4:3516065-3516115	T-47D	breast:	n/a
47	chr4:3520016-3520066	HCT-116	colon:	n/a
48	chr4:3520389-3520439	CMK	blood:	n/a
49	chr4:3512392-3512442	HUVEC	blood vessel:	n/a
50	chr4:3520389-3520439	AG09319	gingival:	n/a

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:3484276..3486536-chr4:3514964..3516721,2	MCF-7	breast:
2	chr4:3488541..3491242-chr4:3495615..3498535,2	K562	blood:
3	chr4:3500184..3501840-chr4:3502540..3504182,2	MCF-7	breast:
4	chr4:3509156..3510726-chr4:3517866..3519837,2	K562	blood:
5	chr4:3485927..3488368-chr4:3533732..3536345,3	MCF-7	breast:
6	chr4:3496237..3498612-chr4:3527624..3529896,2	K562	blood:
7	chr4:3505279..3507142-chr4:3509021..3511655,2	K562	blood:
8	chr4:3484714..3487220-chr4:3532599..3535251,4	MCF-7	breast:
9	chr4:3439130..3442230-chr4:3483136..3486025,3	MCF-7	breast:
10	chr4:3292637..3295776-chr4:3483843..3488274,4	MCF-7	breast:
11	chr4:3498309..3502581-chr4:3507036..3510283,5	MCF-7	breast:
12	chr4:3499074..3501837-chr4:3515567..3517558,2	K562	blood:
13	chr4:3501592..3503192-chr4:3503261..3504809,2	MCF-7	breast:
14	chr4:3498309..3502581-chr4:3507036..3510283,5	MCF-7	breast:
15	chr4:3516783..3519822-chr4:3520546..3524887,6	K562	blood:
16	chr4:3512565..3514600-chr4:3532561..3535392,2	K562	blood:
17	chr4:3510781..3520846-chr4:3531784..3535437,12	MCF-7	breast:
18	chr4:3521183..3522929-chr4:3528082..3530849,2	MCF-7	breast:
19	chr4:3495267..3497538-chr4:3499931..3501588,2	K562	blood:
20	chr4:3495965..3498998-chr4:3502013..3504996,4	K562	blood:
21	chr4:3501592..3503192-chr4:3503261..3504809,2	MCF-7	breast:
22	chr4:3521585..3525793-chr4:3532083..3534237,4	MCF-7	breast:
23	chr4:3500639..3503471-chr4:3531403..3534143,3	K562	blood:
24	chr4:3481020..3484183-chr4:3488790..3491004,5	K562	blood:
25	chr4:3464629..3465770-chr4:3486550..3487347,4	MCF-7	breast:
26	chr4:3507434..3509576-chr4:3524898..3527608,2	K562	blood:
27	chr4:3495965..3498998-chr4:3502013..3504996,4	K562	blood:
28	chr4:3082342..3084920-chr4:3490322..3492500,2	K562	blood:
29	chr4:3292635..3294292-chr4:3500969..3502505,2	MCF-7	breast:
30	chr4:3490007..3491895-chr4:3517979..3519812,2	K562	blood:
31	chr4:3510589..3512915-chr4:3532511..3535420,4	K562	blood:
32	chr4:3484197..3487656-chr4:3491883..3496058,4	K562	blood:
33	chr4:3516564..3519822-chr4:3521615..3524887,4	K562	blood:
34	chr4:3497012..3500128-chr4:3532348..3534141,3	K562	blood:
35	chr4:3293993..3296488-chr4:3491954..3495229,3	MCF-7	breast:
36	chr4:3496124..3499190-chr4:3513529..3517461,3	MCF-7	breast:
37	chr4:3464939..3465859-chr4:3486070..3487026,3	MCF-7	breast:
38	chr4:3481541..3484039-chr4:3515010..3518175,3	MCF-7	breast:
39	chr4:3491515..3496273-chr4:3521421..3525528,4	MCF-7	breast:
40	chr4:3510937..3515014-chr4:3516232..3518193,3	K562	blood:
41	chr4:3520184..3523164-chr4:3523314..3526505,3	MCF-7	breast:
42	chr4:3484197..3487656-chr4:3491883..3496058,4	K562	blood:
43	chr4:3486660..3488700-chr4:3515117..3517237,2	MCF-7	breast:
44	chr4:3490007..3491895-chr4:3517979..3519812,2	K562	blood:
45	chr4:3386285..3389665-chr4:3485168..3487566,3	MCF-7	breast:
46	chr4:3516564..3519822-chr4:3521615..3524887,4	K562	blood:
47	chr4:3497012..3499150-chr4:3532552..3535474,2	K562	blood:
48	chr4:3500184..3501840-chr4:3502540..3504182,2	MCF-7	breast:
49	chr4:3478548..3481215-chr4:3487290..3489311,2	K562	blood:
50	chr4:3493092..3495587-chr4:3516926..3518473,2	K562	blood:

No data

Variant related genes	Relation type
DOK7	TF binding region
ENSG00000268781	TF binding region
ENSG00000261643	TF binding region
DOK7	CpG island
ENSG00000268781	CpG island
ENSG00000261643	CpG island
ENSG00000159788	chromatin interactions
ENSG00000261643	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000175920	chromatin interactions
ENSG00000268781	chromatin interactions

Extended variants
information (count: 2734 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2734 , 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	rs1881803	chr4:3485786-3485787	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188615989	chr4:3485792-3485793	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs561908568	chr4:3485801-3485802	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs527483240	chr4:3485829-3485830	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs547627704	chr4:3485853-3485854	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs570670791	chr4:3485876-3485877	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs371198964	chr4:3485885-3485886	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs532913633	chr4:3485968-3485969	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs549538920	chr4:3485974-3485975	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs569395147	chr4:3485983-3485984	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs114094073	chr4:3486002-3486003	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs555048393	chr4:3486011-3486012	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs372282412	chr4:3486022-3486023	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs147478785	chr4:3486040-3486041	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs2006277	chr4:3486125-3486126	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558405297	chr4:3486128-3486129	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs181099039	chr4:3486129-3486130	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs543786824	chr4:3486131-3486132	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs140006372	chr4:3486134-3486135	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs1881804	chr4:3486135-3486136	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543095041	chr4:3486139-3486140	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs386670695	chr4:3486145-3486146	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs1881805	chr4:3486146-3486147	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570966621	chr4:3486151-3486152	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs564383713	chr4:3486167-3486168	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs113371008	chr4:3486199-3486200	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs2006171	chr4:3486203-3486204	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs370902638	chr4:3486204-3486205	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs569263972	chr4:3486209-3486210	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs528868735	chr4:3486220-3486221	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs183636629	chr4:3486235-3486236	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs565461500	chr4:3486244-3486245	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs535200745	chr4:3486248-3486249	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs558105922	chr4:3486277-3486278	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs145548589	chr4:3486331-3486332	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs114376366	chr4:3486357-3486358	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs557687422	chr4:3486380-3486381	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs574040605	chr4:3486387-3486388	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs543057825	chr4:3486394-3486395	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs144359096	chr4:3486408-3486409	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs573401259	chr4:3486495-3486496	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs3827767	chr4:3486511-3486512	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs370812076	chr4:3486531-3486532	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs114966369	chr4:3486549-3486550	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs577771403	chr4:3486564-3486565	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs543311244	chr4:3486576-3486577	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs148786174	chr4:3486618-3486619	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs528831739	chr4:3486639-3486640	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs565239496	chr4:3486666-3486667	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs548598515	chr4:3486700-3486701	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1113 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3467000-3493600	Weak transcription	Aorta	Aorta
2	chr4:3468800-3486400	Weak transcription	Psoas Muscle	Psoas
3	chr4:3476800-3490800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr4:3481000-3489200	Enhancers	Fetal Heart	heart
5	chr4:3481200-3488800	Enhancers	Left Ventricle	heart
6	chr4:3481400-3486200	Enhancers	Right Ventricle	heart
7	chr4:3481400-3491200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:3482200-3486600	Enhancers	Stomach Mucosa	stomach
9	chr4:3482400-3486400	Enhancers	Primary B cells from cord blood	blood
10	chr4:3482400-3487200	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr4:3483000-3486800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:3483200-3489600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:3484000-3486600	Enhancers	Gastric	stomach
14	chr4:3484200-3486400	Weak transcription	Lung	lung
15	chr4:3484600-3486000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:3485000-3486000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:3485000-3486600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
18	chr4:3485000-3486800	Enhancers	Brain Angular Gyrus	brain
19	chr4:3485000-3489400	Bivalent Enhancer	Placenta	Placenta
20	chr4:3485200-3485800	Enhancers	Esophagus	oesophagus
21	chr4:3485200-3486200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
22	chr4:3485200-3486400	Enhancers	A549	lung
23	chr4:3485200-3486600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr4:3485200-3486600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:3485200-3486800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:3485200-3486800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr4:3485200-3486800	Bivalent Enhancer	Fetal Stomach	stomach
28	chr4:3485200-3487400	Enhancers	Pancreas	Pancrea
29	chr4:3485200-3487400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
30	chr4:3485200-3487400	Enhancers	Spleen	Spleen
31	chr4:3485200-3488200	Flanking Active TSS	HMEC	breast
32	chr4:3485200-3489400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr4:3485200-3489600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:3485400-3485800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:3485400-3485800	Enhancers	NHDF-Ad	bronchial
36	chr4:3485400-3485800	Enhancers	Osteobl	bone
37	chr4:3485400-3486000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:3485400-3486000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr4:3485400-3486000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr4:3485400-3486200	Bivalent Enhancer	Colonic Mucosa	Colon
41	chr4:3485400-3486600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr4:3485400-3486600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr4:3485400-3486600	Enhancers	Brain Hippocampus Middle	brain
44	chr4:3485400-3486600	Bivalent Enhancer	NH-A	brain
45	chr4:3485400-3486800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:3485400-3487600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:3485400-3488200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:3485400-3488600	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr4:3485400-3489800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:3485600-3485800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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