Variant report

Variant	esv3423120
Chromosome Location	chr12:48335210-48338058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:48336211-48336482	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr12:48337533-48337616	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr12:48336217-48336391	Medullo	brain:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
4	CTCF	chr12:48336238-48336387	HepG2	liver:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
5	CTCF	chr12:48336160-48336310	GM12867	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304
6	CTCF	chr12:48336200-48336350	A549	lung:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
7	CTCF	chr12:48336262-48336344	Fibrobl	skin:	n/a	chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
8	CTCF	chr12:48336200-48336350	HVMF	connective:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
9	CTCF	chr12:48336240-48336390	HepG2	liver:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
10	CTCF	chr12:48336216-48336442	IMR90	lung:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
11	CTCF	chr12:48336195-48336380	Pancreas_OC	pancreas:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
12	CTCF	chr12:48336220-48336370	K562	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
13	CTCF	chr12:48336260-48336410	K562	blood:	n/a	chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
14	CTCF	chr12:48336249-48336370	Gliobla	brain:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
15	CTCF	chr12:48336240-48336390	HMEC	breast:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
16	CTCF	chr12:48336220-48336370	GM12878	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
17	CTCF	chr12:48336200-48336350	HL-60	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
18	CTCF	chr12:48336280-48336430	GM12864	blood:	n/a	chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
19	CTCF	chr12:48336240-48336390	GM12870	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
20	CTCF	chr12:48336200-48336350	SK-N-SH_RA	brain:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
21	CTCF	chr12:48336220-48336370	HPF	lung:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
22	CTCF	chr12:48336206-48336389	GM13977	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
23	CTCF	chr12:48336242-48336363	GM10248	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
24	CTCF	chr12:48336220-48336370	HCPEpiC	choroid plexus:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
25	CTCF	chr12:48336295-48336335	MCF-7	breast:	n/a	chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
26	CTCF	chr12:48336220-48336370	GM12875	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
27	CTCF	chr12:48336541-48336612	GM12891	blood:	n/a	n/a
28	CTCF	chr12:48336180-48336330	GM12874	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
29	CTCF	chr12:48336544-48336597	GM12892	blood:	n/a	n/a
30	CTCF	chr12:48336140-48336290	RPTEC	kidney:	n/a	chr12:48336256-48336269
31	CTCF	chr12:48336184-48336418	GM12891	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
32	CTCF	chr12:48336220-48336370	GM12872	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
33	CTCF	chr12:48336200-48336350	GM06990	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
34	CTCF	chr12:48336160-48336310	HCM	heart:	n/a	chr12:48336256-48336269 chr12:48336291-48336304
35	CTCF	chr12:48336240-48336390	AG10803	skin:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
36	CTCF	chr12:48336219-48336374	SK-N-SH_RA	brain:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
37	CTCF	chr12:48336166-48336457	K562	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
38	CTCF	chr12:48336276-48336326	MCF-7	breast:	n/a	chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
39	CTCF	chr12:48336220-48336370	AG09309	skin:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
40	CTCF	chr12:48336180-48336330	NHEK	skin:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
41	CTCF	chr12:48336220-48336370	HCFaa	heart:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
42	CTCF	chr12:48336053-48336552	SK-N-SH	brain:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
43	CTCF	chr12:48336295-48336326	LNCaP	prostate:	n/a	chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
44	CTCF	chr12:48336240-48336390	NB4	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
45	CTCF	chr12:48336231-48336399	A549	lung:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
46	CTCF	chr12:48336200-48336350	GM12873	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
47	CTCF	chr12:48336260-48336410	BJ	skin:	n/a	chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
48	CTCF	chr12:48336227-48336369	Kidney_OC	kidney:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
49	CTCF	chr12:48336069-48336519	H1-hESC	embryonic stem cell:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311
50	CTCF	chr12:48336193-48336403	K562	blood:	n/a	chr12:48336256-48336269 chr12:48336291-48336304 chr12:48336297-48336318 chr12:48336295-48336313 chr12:48336298-48336311

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48336164-48336214	SK-N-MC	brain:	n/a
2	chr12:48336164-48336214	HCM	heart:	n/a
3	chr12:48336655-48336705	BJ	skin:	n/a
4	chr12:48336655-48336705	LNCaP	prostate:	n/a
5	chr12:48336164-48336214	HAEpiC	amniotic membrane:	n/a
6	chr12:48336360-48336410	GM19239	blood:	n/a
7	chr12:48336360-48336410	GM12878	blood:	n/a
8	chr12:48336360-48336410	ProgFib	skin:	n/a
9	chr12:48336164-48336214	BJ	skin:	n/a
10	chr12:48336360-48336410	PFSK-1	brain:	n/a
11	chr12:48336164-48336214	HRE	kidney:	n/a
12	chr12:48336164-48336214	Jurkat	blood:	n/a
13	chr12:48336360-48336410	RPTEC	kidney:	n/a
14	chr12:48336164-48336214	PFSK-1	brain:	n/a
15	chr12:48336655-48336705	HepG2	liver:	n/a
16	chr12:48336655-48336705	Hela-S3	cervix:	n/a
17	chr12:48336164-48336214	CMK	blood:	n/a
18	chr12:48336164-48336214	HepG2	liver:	n/a
19	chr12:48336655-48336705	HNPCEpiC	eye:	n/a
20	chr12:48336655-48336705	GM19239	blood:	n/a
21	chr12:48336360-48336410	IMR90	lung:	fetal
22	chr12:48336655-48336705	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:48336164-48336214	NHDF-neo	bronchial:	n/a
24	chr12:48336164-48336214	HUVEC	blood vessel:	n/a
25	chr12:48336164-48336214	AoSMC	blood vessel:	n/a
26	chr12:48336360-48336410	NHDF-neo	bronchial:	n/a
27	chr12:48336164-48336214	Caco-2	colon:	n/a
28	chr12:48336655-48336705	GM12878	blood:	n/a
29	chr12:48336655-48336705	NHDF-neo	bronchial:	n/a
30	chr12:48336655-48336705	HAEpiC	amniotic membrane:	n/a
31	chr12:48336655-48336705	NT2-D1	testis:	n/a
32	chr12:48336360-48336410	HEEpiC	esophagus:	n/a
33	chr12:48336164-48336214	AG10803	skin:	n/a
34	chr12:48336164-48336214	AG04450	lung:	fetal
35	chr12:48336655-48336705	HIPEpiC	eye:	n/a
36	chr12:48336360-48336410	HCPEpiC	choroid plexus:	n/a
37	chr12:48336655-48336705	NH-A	brain:	n/a
38	chr12:48336360-48336410	HRPEpiC	eye:	n/a
39	chr12:48336655-48336705	Hepatocyte	liver:	n/a
40	chr12:48336655-48336705	HRPEpiC	eye:	n/a
41	chr12:48336360-48336410	MCF10A-Er-Src	breast:	n/a
42	chr12:48336655-48336705	HCT-116	colon:	n/a
43	chr12:48336164-48336214	Hela-S3	cervix:	n/a
44	chr12:48336164-48336214	GM12878	blood:	n/a
45	chr12:48336655-48336705	PrEC	prostate:	n/a
46	chr12:48336655-48336705	HCF	heart:	n/a
47	chr12:48336360-48336410	HMEC	breast:	n/a
48	chr12:48336164-48336214	HMEC	breast:	n/a
49	chr12:48336360-48336410	SKMC	muscle:	n/a
50	chr12:48336164-48336214	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48336001..48336747-chr12:48558620..48559352,3	K562	blood:
2	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
3	chr12:48337310..48342034-chr12:48342237..48346016,6	MCF-7	breast:
4	chr12:48336245..48336757-chr12:48583257..48583914,2	K562	blood:
5	chr12:48297838..48300182-chr12:48335522..48337383,2	MCF-7	breast:
6	chr12:48337421..48339727-chr12:48348343..48351115,2	MCF-7	breast:

Variant related genes	Relation type
VDR	TF binding region
VDR	CpG island
ENSG00000111424	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541472826	chr12:48335265-48335266	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561789796	chr12:48335310-48335311	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114389223	chr12:48335336-48335337	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116562197	chr12:48335419-48335420	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541592794	chr12:48335424-48335425	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564374319	chr12:48335457-48335458	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533443043	chr12:48335545-48335546	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs74086592	chr12:48335546-48335547	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563648131	chr12:48335581-48335582	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529213765	chr12:48335613-48335614	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369439620	chr12:48335649-48335650	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190045543	chr12:48335653-48335654	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566141799	chr12:48335663-48335664	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534837801	chr12:48335727-48335728	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530477461	chr12:48335778-48335779	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547558741	chr12:48335793-48335794	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76954143	chr12:48335825-48335826	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs80001683	chr12:48335842-48335843	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556458972	chr12:48335858-48335859	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576422344	chr12:48335937-48335938	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535403681	chr12:48335975-48335976	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368327428	chr12:48336046-48336047	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572091714	chr12:48336063-48336064	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540809220	chr12:48336065-48336066	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs77137222	chr12:48336141-48336142	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577774304	chr12:48336190-48336191	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375295693	chr12:48336264-48336265	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543623569	chr12:48336280-48336281	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181749660	chr12:48336281-48336282	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185471710	chr12:48336289-48336290	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs386762835	chr12:48336309-48336310	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs4393380	chr12:48336311-48336312	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185549645	chr12:48336350-48336351	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs4307774	chr12:48336389-48336390	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs4321017	chr12:48336423-48336424	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549647105	chr12:48336438-48336439	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs571780058	chr12:48336492-48336493	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76883696	chr12:48336543-48336544	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12813905	chr12:48336561-48336562	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369381537	chr12:48336562-48336563	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12815291	chr12:48336577-48336578	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12813922	chr12:48336584-48336585	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs4576885	chr12:48336613-48336614	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs4303288	chr12:48336619-48336620	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4307775	chr12:48336623-48336624	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536388928	chr12:48336633-48336634	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs555332495	chr12:48336677-48336678	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573262452	chr12:48336684-48336685	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565492944	chr12:48336725-48336726	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs138142537	chr12:48336736-48336737	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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
T-cell prolymphocytic leukemia	17713554	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48328400-48337800	Enhancers	Fetal Heart	heart
2	chr12:48332600-48339600	Weak transcription	NHDF-Ad	bronchial
3	chr12:48332800-48337400	Weak transcription	HMEC	breast
4	chr12:48332800-48337400	Weak transcription	NHEK	skin
5	chr12:48332800-48340200	Weak transcription	Right Atrium	heart
6	chr12:48333000-48335800	Weak transcription	Right Ventricle	heart
7	chr12:48333000-48339200	Weak transcription	HSMM	muscle
8	chr12:48333400-48335800	Weak transcription	Spleen	Spleen
9	chr12:48333600-48336200	Weak transcription	Small Intestine	intestine
10	chr12:48333800-48337000	Weak transcription	Hela-S3	cervix
11	chr12:48334000-48336800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:48334200-48336600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:48334400-48336400	Weak transcription	Colonic Mucosa	Colon
14	chr12:48334600-48335800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:48334800-48335400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:48335000-48335800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:48335000-48336400	Enhancers	Duodenum Mucosa	Duodenum
18	chr12:48335000-48337000	Bivalent Enhancer	Fetal Stomach	stomach
19	chr12:48335200-48335600	Bivalent Enhancer	Placenta	Placenta
20	chr12:48335200-48335800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr12:48335200-48335800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:48335200-48335800	Enhancers	Fetal Muscle Leg	muscle
23	chr12:48335200-48336000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr12:48335200-48336000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr12:48335200-48336200	Enhancers	HSMMtube	muscle
26	chr12:48335200-48336600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:48335200-48337000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:48335200-48337000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr12:48335200-48337600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr12:48335400-48336200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:48335400-48336200	Bivalent Enhancer	Fetal Thymus	thymus
32	chr12:48335600-48335800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
33	chr12:48335600-48335800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:48335600-48336200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr12:48335600-48337000	Enhancers	Placenta	Placenta
36	chr12:48335800-48336000	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
37	chr12:48335800-48336000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr12:48335800-48336000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:48335800-48336000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:48335800-48336000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:48335800-48336000	Enhancers	Fetal Intestine Small	intestine
42	chr12:48335800-48336000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr12:48335800-48336000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr12:48335800-48336200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr12:48335800-48336200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:48335800-48336200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr12:48335800-48336200	Bivalent Enhancer	Adipose Nuclei	Adipose
48	chr12:48335800-48336200	Bivalent Enhancer	Fetal Intestine Large	intestine
49	chr12:48335800-48336600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:48335800-48336600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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