Variant report

Variant	esv3439511
Chromosome Location	chr4:2793779-2796327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:400)
CpG islands
(count:734)
Chromatin interactive
region (count:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:2795799-2795976	HepG2	liver:	n/a	n/a
2	ATF3	chr4:2795740-2796067	K562	blood:	n/a	n/a
3	BACH1	chr4:2795327-2795641	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr4:2794428-2794788	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:2794438-2794755	K562	blood:	n/a	n/a
6	BHLHE40	chr4:2795330-2795452	K562	blood:	n/a	n/a
7	BHLHE40	chr4:2795733-2796033	K562	blood:	n/a	n/a
8	BHLHE40	chr4:2794265-2794777	HepG2	liver:	n/a	n/a
9	BRCA1	chr4:2795916-2796038	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr4:2795410-2796270	K562	blood:	n/a	n/a
11	CBX3	chr4:2794372-2794721	K562	blood:	n/a	n/a
12	CCNT2	chr4:2795205-2795945	K562	blood:	n/a	chr4:2795566-2795575
13	CCNT2	chr4:2794743-2794946	K562	blood:	n/a	n/a
14	CEBPB	chr4:2795710-2796122	MCF-7	breast:	n/a	chr4:2795902-2795913
15	CEBPB	chr4:2795760-2796054	H1-hESC	embryonic stem cell:	n/a	chr4:2795902-2795913
16	CEBPB	chr4:2795497-2796322	Hela-S3	cervix:	n/a	chr4:2795902-2795913
17	CEBPB	chr4:2795755-2796027	HepG2	liver:	n/a	chr4:2795902-2795913
18	CEBPB	chr4:2795734-2796090	A549	lung:	n/a	chr4:2795902-2795913
19	CEBPB	chr4:2795588-2796194	MCF-7	breast:	n/a	chr4:2795902-2795913
20	CEBPB	chr4:2795500-2795515	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr4:2795661-2796112	A549	lung:	n/a	chr4:2795902-2795913
22	CEBPB	chr4:2795519-2796098	IMR90	lung:	n/a	chr4:2795902-2795913
23	CEBPB	chr4:2795647-2796110	HepG2	liver:	n/a	chr4:2795902-2795913
24	CEBPB	chr4:2795638-2796102	HepG2	liver:	n/a	chr4:2795902-2795913
25	CEBPB	chr4:2795583-2796098	K562	blood:	n/a	chr4:2795902-2795913
26	CEBPB	chr4:2795770-2796025	K562	blood:	n/a	chr4:2795902-2795913
27	CEBPB	chr4:2795717-2796119	K562	blood:	n/a	chr4:2795902-2795913
28	CEBPB	chr4:2795729-2796012	HepG2	liver:	n/a	chr4:2795902-2795913
29	CEBPD	chr4:2795766-2796035	HepG2	liver:	n/a	n/a
30	CEBPD	chr4:2795565-2796083	HepG2	liver:	n/a	n/a
31	CEBPD	chr4:2794478-2794851	HepG2	liver:	n/a	n/a
32	CHD2	chr4:2795605-2795788	HepG2	liver:	n/a	n/a
33	CHD2	chr4:2794563-2794582	HepG2	liver:	n/a	n/a
34	CHD2	chr4:2794507-2794594	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr4:2795211-2796686	Hela-S3	cervix:	n/a	chr4:2795306-2795316
36	CHD2	chr4:2796007-2796106	HepG2	liver:	n/a	n/a
37	CHD2	chr4:2795510-2795553	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr4:2794677-2794681	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr4:2794470-2794537	GM12878	blood:	n/a	n/a
40	CREB1	chr4:2794515-2794802	A549	lung:	n/a	n/a
41	CREB1	chr4:2795508-2795767	A549	lung:	n/a	n/a
42	CTCF	chr4:2795587-2795597	GM19239	blood:	n/a	n/a
43	CTCF	chr4:2794780-2794930	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr4:2795220-2795370	AG04449	skin:	n/a	n/a
45	CTCF	chr4:2795857-2795904	GM19239	blood:	n/a	n/a
46	CTCF	chr4:2795860-2796010	GM12874	blood:	n/a	n/a
47	CTCF	chr4:2795671-2795690	GM19239	blood:	n/a	n/a
48	CTCF	chr4:2795600-2795642	GM19239	blood:	n/a	n/a
49	CTCF	chr4:2796130-2796139	Lung_OC	lung:	n/a	n/a
50	CTCF	chr4:2794800-2794950	GM12872	blood:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:2795456-2795506	MCF10A-Er-Src	breast:	n/a
2	chr4:2795345-2795395	Jurkat	blood:	n/a
3	chr4:2795456-2795506	MCF10A-Er-Src	breast:	n/a
4	chr4:2795345-2795395	Jurkat	blood:	n/a
5	chr4:2795105-2795155	HCM	heart:	n/a
6	chr4:2793774-2793824	NH-A	brain:	n/a
7	chr4:2794091-2794141	HMEC	breast:	n/a
8	chr4:2795501-2795551	NHBE	bronchial:	n/a
9	chr4:2794231-2794281	H1-hESC	embryonic stem cell:	embryo
10	chr4:2794616-2794666	AoSMC	blood vessel:	n/a
11	chr4:2795105-2795155	NHDF-neo	bronchial:	n/a
12	chr4:2794091-2794141	AoSMC	blood vessel:	n/a
13	chr4:2794188-2794238	H1-hESC	embryonic stem cell:	embryo
14	chr4:2793774-2793824	HIPEpiC	eye:	n/a
15	chr4:2795456-2795506	HIPEpiC	eye:	n/a
16	chr4:2794616-2794666	CMK	blood:	n/a
17	chr4:2795105-2795155	HNPCEpiC	eye:	n/a
18	chr4:2794637-2794687	BE2_C	brain:	n/a
19	chr4:2794091-2794141	HL-60	blood:	n/a
20	chr4:2795155-2795205	HUVEC	blood vessel:	n/a
21	chr4:2794091-2794141	HRE	kidney:	n/a
22	chr4:2795439-2795489	HEEpiC	esophagus:	n/a
23	chr4:2795501-2795551	HCPEpiC	choroid plexus:	n/a
24	chr4:2794091-2794141	HUVEC	blood vessel:	n/a
25	chr4:2793774-2793824	AG09319	gingival:	n/a
26	chr4:2795439-2795489	SKMC	muscle:	n/a
27	chr4:2794188-2794238	ProgFib	skin:	n/a
28	chr4:2794188-2794238	GM12892	blood:	n/a
29	chr4:2795501-2795551	HCT-116	colon:	n/a
30	chr4:2795105-2795155	ovcar-3	ovarian:	n/a
31	chr4:2795501-2795551	Hela-S3	cervix:	n/a
32	chr4:2794637-2794687	SAEC	small airway:	n/a
33	chr4:2795501-2795551	H1-hESC	embryonic stem cell:	embryo
34	chr4:2795456-2795506	SAEC	small airway:	n/a
35	chr4:2795345-2795395	T-47D	breast:	n/a
36	chr4:2795456-2795506	RPTEC	kidney:	n/a
37	chr4:2795456-2795506	NB4	blood:	n/a
38	chr4:2794616-2794666	NT2-D1	testis:	n/a
39	chr4:2793774-2793824	HepG2	liver:	n/a
40	chr4:2794231-2794281	HMEC	breast:	n/a
41	chr4:2794091-2794141	GM12891	blood:	n/a
42	chr4:2795456-2795506	PrEC	prostate:	n/a
43	chr4:2794616-2794666	ovcar-3	ovarian:	n/a
44	chr4:2794616-2794666	HRE	kidney:	n/a
45	chr4:2793774-2793824	Hela-S3	cervix:	n/a
46	chr4:2794637-2794687	HRCEpiC	kidney:	n/a
47	chr4:2795105-2795155	AG09309	skin:	n/a
48	chr4:2794637-2794687	GM12891	blood:	n/a
49	chr4:2794616-2794666	AG04449	skin:	fetal
50	chr4:2795456-2795506	A549	lung:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2764307..2766029-chr4:2796007..2799885,3	MCF-7	breast:
2	chr4:2795447..2803617-chr4:2934606..2939244,18	MCF-7	breast:
3	chr4:2793408..2795261-chr4:2937928..2940807,2	MCF-7	breast:
4	chr17:56708745..56710384-chr4:2792772..2795707,2	MCF-7	breast:
5	chr4:2795938..2798748-chr4:2909831..2911364,2	MCF-7	breast:
6	chr4:2753714..2768807-chr4:2789818..2806638,47	MCF-7	breast:
7	chr4:2794525..2804465-chr4:2841103..2847851,19	MCF-7	breast:
8	chr4:2794820..2799191-chr4:2824314..2827597,4	MCF-7	breast:
9	chr4:2747762..2749631-chr4:2792951..2795246,2	MCF-7	breast:
10	chr4:2795244..2797486-chr4:2845439..2847269,2	MCF-7	breast:
11	chr4:2793270..2794844-chr4:2830129..2831853,2	MCF-7	breast:
12	chr4:2793663..2796017-chr4:2810077..2811741,2	MCF-7	breast:
13	chr4:2795940..2798085-chr4:2962031..2964351,2	MCF-7	breast:
14	chr4:2757714..2759449-chr4:2793017..2796252,4	K562	blood:
15	chr4:2745843..2747557-chr4:2792852..2794917,2	MCF-7	breast:
16	chr4:2794178..2796870-chr4:2828744..2832985,4	MCF-7	breast:
17	chr4:2794084..2803742-chr4:2816227..2824357,23	MCF-7	breast:
18	chr4:2755902..2759354-chr4:2793552..2797883,6	K562	blood:
19	chr4:2747261..2749525-chr4:2793563..2796343,2	K562	blood:
20	chr4:2793845..2803067-chr4:2816443..2823671,22	MCF-7	breast:
21	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADD1-6	chr4:2795451-2795484	NONHSAT094808
2	lnc-ADD1-6	chr4:2795890-2795989	NONHSAT094808

No data

Variant related genes	Relation type
SH3BP2	TF binding region
SH3BP2	CpG island
ENSG00000087266	chromatin interactions
ENSG00000249673	chromatin interactions
ENSG00000087274	chromatin interactions
ENSG00000109736	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000087269	chromatin interactions
ENSG00000168884	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149462532	chr4:2793787-2793788	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs376224424	chr4:2793797-2793798	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs576295106	chr4:2793893-2793894	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs370491379	chr4:2793894-2793895	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs542093300	chr4:2793906-2793907	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs202051377	chr4:2793913-2793914	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs16844890	chr4:2793919-2793920	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs202008078	chr4:2793920-2793921	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs373657854	chr4:2793921-2793922	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs75117318	chr4:2793938-2793939	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs572465619	chr4:2793941-2793942	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs112541098	chr4:2793949-2793950	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs231338	chr4:2793950-2793951	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs370608531	chr4:2793958-2793959	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs192594006	chr4:2793963-2793964	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs551442732	chr4:2794018-2794019	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs377683115	chr4:2794104-2794105	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs543695407	chr4:2794115-2794116	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs563682991	chr4:2794208-2794209	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs529544792	chr4:2794211-2794212	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs549124203	chr4:2794231-2794232	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs369023565	chr4:2794237-2794238	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs566157741	chr4:2794239-2794240	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs527352330	chr4:2794243-2794244	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs547205116	chr4:2794309-2794310	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs397292	chr4:2794320-2794321	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs539481632	chr4:2794327-2794328	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs556495730	chr4:2794343-2794344	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs370903734	chr4:2794345-2794346	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs117548782	chr4:2794382-2794383	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs535759533	chr4:2794445-2794446	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs555569478	chr4:2794476-2794477	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs184575892	chr4:2794495-2794496	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs114908845	chr4:2794526-2794527	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs76738645	chr4:2794559-2794560	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs28656075	chr4:2794565-2794566	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs534504565	chr4:2794572-2794573	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs186760434	chr4:2794599-2794600	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs563350419	chr4:2794630-2794631	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs533495441	chr4:2794770-2794771	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs529509202	chr4:2794778-2794779	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs542935837	chr4:2794861-2794862	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs34182204	chr4:2794937-2794938	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs182820	chr4:2794954-2794955	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs231337	chr4:2794964-2794965	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs199504675	chr4:2794988-2794989	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs568269335	chr4:2795083-2795084	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs535714753	chr4:2795112-2795113	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs231336	chr4:2795190-2795191	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs547460620	chr4:2795237-2795238	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Developmental delay	21147756	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
Breast cancer	20409316	CNVD
Facial dysmorphism	22438245	CNVD
Wolf-Hirschhorn syndrome	22438245	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2786600-2794800	Enhancers	Primary B cells from cord blood	blood
2	chr4:2786800-2794800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:2786800-2794800	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:2787400-2794800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:2787800-2794400	Enhancers	Spleen	Spleen
6	chr4:2787800-2794800	Enhancers	Fetal Muscle Leg	muscle
7	chr4:2788000-2794200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:2789800-2793800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:2789800-2793800	Weak transcription	A549	lung
10	chr4:2789800-2794800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:2789800-2794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:2790000-2793800	Weak transcription	Gastric	stomach
13	chr4:2790000-2794000	Weak transcription	Hela-S3	cervix
14	chr4:2790000-2794400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr4:2790000-2794800	Weak transcription	Brain Substantia Nigra	brain
16	chr4:2790200-2795400	Weak transcription	Fetal Lung	lung
17	chr4:2790400-2793800	Weak transcription	Lung	lung
18	chr4:2790400-2794000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:2790400-2794400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:2790400-2794400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:2790400-2794600	Weak transcription	Thymus	Thymus
22	chr4:2790600-2794800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:2790600-2795000	Weak transcription	HSMMtube	muscle
24	chr4:2790600-2795200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:2790800-2793800	Weak transcription	Right Atrium	heart
26	chr4:2790800-2794000	Weak transcription	Brain Anterior Caudate	brain
27	chr4:2790800-2794000	Weak transcription	Fetal Heart	heart
28	chr4:2790800-2794200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:2790800-2794400	Weak transcription	Primary T cells from cord blood	blood
30	chr4:2790800-2794400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:2790800-2794400	Weak transcription	Brain Germinal Matrix	brain
32	chr4:2790800-2794800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:2790800-2794800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:2790800-2794800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:2791000-2795000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:2791200-2794200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr4:2791400-2794000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:2791400-2795200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr4:2791600-2794000	Weak transcription	GM12878-XiMat	blood
40	chr4:2791600-2794200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr4:2791600-2794200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:2791600-2794400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr4:2791600-2795200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:2792000-2793800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr4:2792000-2794600	Flanking Active TSS	HepG2	liver
46	chr4:2792000-2794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:2792200-2794400	Enhancers	Adipose Nuclei	Adipose
48	chr4:2792200-2794800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:2792200-2794800	Enhancers	Placenta	Placenta
50	chr4:2792800-2794800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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