Variant report

Variant	esv3404611
Chromosome Location	chr12:58026085-58030983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:578)
CpG islands
(count:977)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:58026901-58027128	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:58026897-58027055	K562	blood:	n/a	n/a
3	ATF3	chr12:58026766-58027387	A549	lung:	n/a	n/a
4	BACH1	chr12:58026741-58027208	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr12:58025589-58026517	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr12:58026957-58026986	K562	blood:	n/a	n/a
7	BACH1	chr12:58026323-58026454	K562	blood:	n/a	n/a
8	BCL3	chr12:58026683-58027353	A549	lung:	n/a	chr12:58026899-58026912 chr12:58026923-58026936 chr12:58026747-58026760
9	BCLAF1	chr12:58026813-58027182	GM12878	blood:	n/a	chr12:58026899-58026912 chr12:58026923-58026936
10	BHLHE40	chr12:58026851-58027191	K562	blood:	n/a	n/a
11	BHLHE40	chr12:58026881-58027081	GM12878	blood:	n/a	n/a
12	BHLHE40	chr12:58026000-58026564	K562	blood:	n/a	n/a
13	BRCA1	chr12:58026713-58027007	HepG2	liver:	n/a	n/a
14	BRCA1	chr12:58026964-58027147	GM12878	blood:	n/a	n/a
15	BRCA1	chr12:58027448-58027648	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr12:58027364-58027498	H1-hESC	embryonic stem cell:	n/a	n/a
17	CBX3	chr12:58026800-58027092	K562	blood:	n/a	n/a
18	CBX3	chr12:58026694-58027239	K562	blood:	n/a	n/a
19	CCNT2	chr12:58025660-58027263	K562	blood:	n/a	chr12:58026633-58026642 chr12:58026082-58026091 chr12:58026832-58026841
20	CEBPB	chr12:58026806-58026831	HepG2	liver:	n/a	n/a
21	CEBPB	chr12:58026919-58027379	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr12:58026975-58027084	K562	blood:	n/a	n/a
23	CHD1	chr12:58026770-58027192	IMR90	lung:	n/a	chr12:58026801-58026811
24	CHD2	chr12:58026699-58027208	K562	blood:	n/a	chr12:58026801-58026811
25	CHD2	chr12:58026834-58027144	GM12878	blood:	n/a	n/a
26	CHD2	chr12:58026813-58027211	HepG2	liver:	n/a	n/a
27	CHD2	chr12:58026537-58027172	Hela-S3	cervix:	n/a	chr12:58026801-58026811
28	CREB1	chr12:58026691-58027174	A549	lung:	n/a	n/a
29	CREB1	chr12:58025921-58026579	A549	lung:	n/a	n/a
30	CTBP2	chr12:58024726-58027119	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr12:58026877-58027167	GM20000	blood:	n/a	n/a
32	CTCF	chr12:58026320-58026470	GM12868	blood:	n/a	n/a
33	CTCF	chr12:58026960-58027110	GM12865	blood:	n/a	n/a
34	CTCF	chr12:58026340-58026490	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr12:58026320-58026470	Caco-2	colon:	n/a	n/a
36	CTCF	chr12:58027020-58027170	NHEK	skin:	n/a	n/a
37	CTCF	chr12:58026767-58027203	ECC-1	luminal epithelium:	n/a	n/a
38	CTCF	chr12:58026342-58026457	GM19240	blood:	n/a	n/a
39	CTCF	chr12:58026360-58026510	BJ	skin:	n/a	n/a
40	CTCF	chr12:58026960-58027110	AG04450	lung:	n/a	n/a
41	CTCF	chr12:58026700-58026714	GM12892	blood:	n/a	n/a
42	CTCF	chr12:58026940-58027090	BJ	skin:	n/a	n/a
43	CTCF	chr12:58026812-58027199	GM12892	blood:	n/a	n/a
44	CTCF	chr12:58026845-58027159	Lung_OC	lung:	n/a	n/a
45	CTCF	chr12:58026308-58026514	GM12892	blood:	n/a	n/a
46	CTCF	chr12:58026660-58026810	BJ	skin:	n/a	chr12:58026689-58026702
47	CTCF	chr12:58026337-58026398	Medullo	brain:	n/a	n/a
48	CTCF	chr12:58026820-58027141	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr12:58026870-58027114	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr12:58026940-58027090	GM12878	blood:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58026342-58026392	SAEC	small airway:	n/a
2	chr12:58026342-58026392	SAEC	small airway:	n/a
3	chr12:58026476-58026526	IMR90	lung:	fetal
4	chr12:58026342-58026392	MCF-7	breast:	n/a
5	chr12:58030134-58030184	SKMC	muscle:	n/a
6	chr12:58027504-58027554	BJ	skin:	n/a
7	chr12:58030134-58030184	U87	brain:	n/a
8	chr12:58026592-58026642	GM12878	blood:	n/a
9	chr12:58026217-58026267	AG09309	skin:	n/a
10	chr12:58027504-58027554	Jurkat	blood:	n/a
11	chr12:58026342-58026392	HRPEpiC	eye:	n/a
12	chr12:58027032-58027082	SAEC	small airway:	n/a
13	chr12:58027030-58027080	Hela-S3	cervix:	n/a
14	chr12:58027032-58027082	GM12891	blood:	n/a
15	chr12:58027199-58027249	AG10803	skin:	n/a
16	chr12:58027030-58027080	HCF	heart:	n/a
17	chr12:58027504-58027554	GM12878	blood:	n/a
18	chr12:58026149-58026199	Caco-2	colon:	n/a
19	chr12:58027055-58027105	GM19239	blood:	n/a
20	chr12:58027032-58027082	AG09309	skin:	n/a
21	chr12:58027055-58027105	AG04450	lung:	fetal
22	chr12:58027197-58027247	U87	brain:	n/a
23	chr12:58026544-58026594	SKMC	muscle:	n/a
24	chr12:58027101-58027151	HCM	heart:	n/a
25	chr12:58026705-58026755	RPTEC	kidney:	n/a
26	chr12:58026592-58026642	HL-60	blood:	n/a
27	chr12:58027032-58027082	SKMC	muscle:	n/a
28	chr12:58026592-58026642	HEEpiC	esophagus:	n/a
29	chr12:58027055-58027105	HCM	heart:	n/a
30	chr12:58027055-58027105	SK-N-SH	brain:	n/a
31	chr12:58027504-58027554	HepG2	liver:	n/a
32	chr12:58027197-58027247	ECC-1	luminal epithelium:	n/a
33	chr12:58027055-58027105	HNPCEpiC	eye:	n/a
34	chr12:58026705-58026755	Hela-S3	cervix:	n/a
35	chr12:58026217-58026267	HCM	heart:	n/a
36	chr12:58026544-58026594	AG04449	skin:	fetal
37	chr12:58027032-58027082	CMK	blood:	n/a
38	chr12:58030134-58030184	HRCEpiC	kidney:	n/a
39	chr12:58027197-58027247	IMR90	lung:	fetal
40	chr12:58026476-58026526	HIPEpiC	eye:	n/a
41	chr12:58027030-58027080	SK-N-SH_RA	brain:	n/a
42	chr12:58027199-58027249	HMEC	breast:	n/a
43	chr12:58026217-58026267	HIPEpiC	eye:	n/a
44	chr12:58027113-58027163	HMEC	breast:	n/a
45	chr12:58027055-58027105	CMK	blood:	n/a
46	chr12:58030134-58030184	AG04449	skin:	fetal
47	chr12:58026149-58026199	HRPEpiC	eye:	n/a
48	chr12:58026342-58026392	BE2_C	brain:	n/a
49	chr12:58030134-58030184	PFSK-1	brain:	n/a
50	chr12:58027197-58027247	Jurkat	blood:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57939451..57941325-chr12:58024374..58027583,3	K562	blood:
2	chr12:58024113..58026472-chr12:58028228..58030289,2	K562	blood:
3	chr12:57983391..57985108-chr12:58026747..58028430,2	MCF-7	breast:
4	chr12:58004618..58008024-chr12:58024930..58028098,5	MCF-7	breast:
5	chr12:57935626..57940631-chr12:58026197..58030320,5	K562	blood:
6	chr12:58026019..58028946-chr12:58148453..58151531,3	K562	blood:
7	chr12:57909076..57912703-chr12:58030683..58034118,3	K562	blood:
8	chr12:57908910..57916403-chr12:58022622..58028885,15	K562	blood:
9	chr12:57940164..57942070-chr12:58025601..58028102,2	MCF-7	breast:
10	chr12:58026407..58027580-chr12:58087150..58087941,5	MCF-7	breast:
11	chr12:57915782..57916713-chr12:58026905..58027434,2	MCF-7	breast:
12	chr12:57908910..57916122-chr12:58022622..58031573,17	K562	blood:
13	chr12:58017301..58018862-chr12:58026279..58027788,2	MCF-7	breast:
14	chr12:58030492..58032233-chr12:58033542..58035528,2	K562	blood:
15	chr12:57912525..57914628-chr12:58024523..58026539,2	MCF-7	breast:
16	chr12:58026893..58027508-chr12:58087361..58087934,2	K562	blood:
17	chr12:57997114..58001112-chr12:58025485..58030490,5	MCF-7	breast:
18	chr12:58026571..58028240-chr12:58118727..58121626,2	MCF-7	breast:
19	chr12:57983573..57987941-chr12:58024849..58028209,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCTN2-2	chr12:58025698-58026463	NONHSAT028949

No data

Variant related genes	Relation type
B4GALNT1	TF binding region
B4GALNT1	CpG island
ENSG00000257499	chromatin interactions
ENSG00000135502	chromatin interactions
ENSG00000240771	chromatin interactions
ENSG00000135454	chromatin interactions
ENSG00000166986	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000135506	chromatin interactions
ENSG00000178498	chromatin interactions
ENSG00000255737	chromatin interactions
ENSG00000166908	chromatin interactions
ENSG00000135446	chromatin interactions
ENSG00000139266	chromatin interactions
ENSG00000175203	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000208028	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs774897	chr12:58026159-58026160	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532393497	chr12:58026166-58026167	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
3	rs547227823	chr12:58026301-58026302	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
4	rs376361663	chr12:58026365-58026366	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
5	rs12811234	chr12:58026453-58026454	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
6	rs566963224	chr12:58026467-58026468	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs564732562	chr12:58026475-58026476	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs369972227	chr12:58026489-58026490	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs534001479	chr12:58026576-58026577	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs555751322	chr12:58026589-58026590	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs567353470	chr12:58026659-58026660	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs537836228	chr12:58026722-58026723	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs774898	chr12:58026786-58026787	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs377436793	chr12:58026902-58026903	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs577916290	chr12:58026924-58026925	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs542914972	chr12:58026965-58026966	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs528312608	chr12:58026994-58026995	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs774899	chr12:58027081-58027082	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs572121307	chr12:58027087-58027088	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs542331164	chr12:58027100-58027101	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs561022605	chr12:58027101-58027102	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs375303261	chr12:58027111-58027112	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs377601536	chr12:58027168-58027169	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs565181093	chr12:58027185-58027186	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs193031847	chr12:58027243-58027244	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs547582646	chr12:58027255-58027256	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs565706511	chr12:58027269-58027270	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs2619468	chr12:58027307-58027308	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs77195304	chr12:58027310-58027311	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs567415000	chr12:58027311-58027312	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs537897507	chr12:58027349-58027350	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs150687711	chr12:58027408-58027409	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs556093364	chr12:58027443-58027444	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs147550525	chr12:58027447-58027448	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs571618243	chr12:58027465-58027466	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs199664310	chr12:58027466-58027467	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs530867291	chr12:58027502-58027503	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs538930787	chr12:58027541-58027542	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs200569699	chr12:58027597-58027598	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs139031660	chr12:58027598-58027599	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs550890799	chr12:58027604-58027605	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs554366537	chr12:58027645-58027646	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs7979462	chr12:58027685-58027686	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs7979463	chr12:58027693-58027694	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs7953917	chr12:58027698-58027699	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs7953934	chr12:58027730-58027731	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs538583473	chr12:58027775-58027776	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs139387167	chr12:58027778-58027779	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs543196880	chr12:58027815-58027816	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs370344120	chr12:58027865-58027866	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58020600-58026200	Weak transcription	Aorta	Aorta
2	chr12:58025000-58027600	Active TSS	Brain Angular Gyrus	brain
3	chr12:58025400-58026200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:58025400-58026200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:58025400-58026200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
6	chr12:58025400-58026400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr12:58025400-58026400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:58025400-58026400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
9	chr12:58025400-58027000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:58025400-58027400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:58025400-58027400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:58025400-58027600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr12:58025400-58027600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr12:58025600-58026200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:58025600-58026200	Enhancers	Gastric	stomach
16	chr12:58025600-58026200	Enhancers	Pancreas	Pancrea
17	chr12:58025600-58026200	Bivalent/Poised TSS	NHLF	lung
18	chr12:58025600-58026400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:58025600-58026400	Bivalent Enhancer	Fetal Heart	heart
20	chr12:58025600-58026400	Bivalent Enhancer	Fetal Lung	lung
21	chr12:58025600-58026400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
22	chr12:58025600-58026400	Flanking Active TSS	HMEC	breast
23	chr12:58025600-58026600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
24	chr12:58025600-58026600	Active TSS	Fetal Brain Female	brain
25	chr12:58025600-58027000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr12:58025600-58027000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:58025600-58027000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr12:58025600-58027000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr12:58025600-58027000	Active TSS	Right Atrium	heart
30	chr12:58025600-58027200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr12:58025600-58027200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:58025600-58027200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:58025600-58027200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:58025600-58027200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
35	chr12:58025600-58027400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr12:58025600-58027400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:58025600-58027400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:58025600-58027400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:58025600-58027600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr12:58025600-58027600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:58025600-58027600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:58025600-58027600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:58025800-58026200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr12:58025800-58026200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
45	chr12:58025800-58026200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:58025800-58026200	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
47	chr12:58025800-58026200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
48	chr12:58025800-58026200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
49	chr12:58025800-58026200	Flanking Active TSS	Hela-S3	cervix
50	chr12:58025800-58026200	Flanking Active TSS	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links