Variant report

Variant	rs530933678
Chromosome Location	chr12:104659001-104659002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:104658974-104659441	GM12891	blood:	n/a	n/a
2	POLR2A	chr12:104658905-104659709	GM12891	blood:	n/a	n/a
3	POLR2A	chr12:104658910-104659192	MCF-7	breast:	n/a	n/a
4	POU2F2	chr12:104658890-104659645	GM12878	blood:	n/a	n/a
5	POU2F2	chr12:104659001-104659136	GM12878	blood:	n/a	n/a
6	ZBTB33	chr12:104658973-104659717	K562	blood:	n/a	n/a
7	TAF1	chr12:104658911-104659248	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:104658995-104659126	HepG2	liver:	n/a	n/a
9	TAF1	chr12:104658946-104659170	GM12892	blood:	n/a	n/a
10	SP1	chr12:104658958-104659177	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:104658998-104659119	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr12:104658893-104659433	SK-N-MC	brain:	n/a	n/a
13	HEY1	chr12:104658951-104659193	HepG2	liver:	n/a	n/a
14	POLR2A	chr12:104658996-104659228	GM12891	blood:	n/a	n/a
15	TAF1	chr12:104658981-104659136	GM12878	blood:	n/a	n/a
16	SIX5	chr12:104658958-104659158	GM12878	blood:	n/a	n/a
17	HEY1	chr12:104658981-104659318	K562	blood:	n/a	n/a
18	POLR2A	chr12:104658961-104659251	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:104658908-104659182	K562	blood:	n/a	n/a
20	POLR2A	chr12:104658949-104659675	Hela-S3	cervix:	n/a	n/a
21	TAF1	chr12:104658929-104659234	H1-hESC	embryonic stem cell:	n/a	n/a
22	HEY1	chr12:104658912-104659291	HepG2	liver:	n/a	n/a
23	POLR2A	chr12:104658883-104659712	Hela-S3	cervix:	n/a	n/a
24	HEY1	chr12:104658920-104659706	K562	blood:	n/a	n/a
25	REST	chr12:104658997-104659189	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr12:104658827-104659745	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:104658955-104659252	HepG2	liver:	n/a	n/a
28	GABPA	chr12:104658956-104659109	Hela-S3	cervix:	n/a	n/a
29	GABPA	chr12:104658964-104659168	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr12:104658890-104659276	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr12:104658996-104659194	HepG2	liver:	n/a	n/a
32	POLR2A	chr12:104658905-104659707	GM12892	blood:	n/a	n/a
33	POLR2A	chr12:104658804-104659723	GM12878	blood:	n/a	n/a
34	POLR2A	chr12:104658966-104659285	GM12892	blood:	n/a	n/a
35	POLR2A	chr12:104658888-104659224	A549	lung:	n/a	n/a
36	POLR2A	chr12:104658996-104659685	H1-hESC	embryonic stem cell:	n/a	n/a
37	TAF1	chr12:104658891-104659264	HepG2	liver:	n/a	n/a
38	POLR2A	chr12:104658981-104659697	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:104658880-104659737	GM12892	blood:	n/a	n/a
40	POLR2A	chr12:104658952-104659723	GM12891	blood:	n/a	n/a
41	POLR2A	chr12:104658892-104659733	GM12892	blood:	n/a	n/a
42	CTCF	chr12:104658957-104659165	T-47D	breast:	n/a	n/a
43	GATA2	chr12:104658990-104659573	K562	blood:	n/a	n/a
44	TAF1	chr12:104658993-104659211	GM12891	blood:	n/a	n/a
45	TAF1	chr12:104658990-104659214	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr12:104658965-104659171	MCF-7	breast:	n/a	n/a
47	EP300	chr12:104658990-104659184	T-47D	breast:	n/a	n/a
48	GABPA	chr12:104658960-104659164	GM12878	blood:	n/a	n/a
49	GABPA	chr12:104658960-104659168	HepG2	liver:	n/a	n/a
50	POLR2A	chr12:104658967-104659166	ProgFib	skin:	n/a	n/a

No data

Variant related genes	Relation type
RPL18AP3	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv983360	chr12:104658134-104664572	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104652000-104669600	Weak transcription	Hela-S3	cervix
2	chr12:104652800-104673000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:104658200-104659800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:104658200-104664200	Weak transcription	A549	lung
5	chr12:104658200-104665600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:104658200-104670000	Weak transcription	NHLF	lung
7	chr12:104658200-104670200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:104658200-104670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:104658200-104672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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