Variant report

Variant	rs555369252
Chromosome Location	chr1:196032599-196032600
allele	C/T
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	GATA3	chr1:196032295-196032898	SK-N-SH	brain:	n/a	chr1:196032525-196032541
2	STAT3	chr1:196032527-196032778	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr1:196032495-196032717	Hela-S3	cervix:	n/a	n/a
4	FOSL2	chr1:196032497-196032696	A549	lung:	n/a	n/a
5	SP1	chr1:196032491-196032854	A549	lung:	n/a	n/a
6	FOXA2	chr1:196032455-196032959	A549	lung:	n/a	n/a
7	TCF7L2	chr1:196032448-196032779	Hela-S3	cervix:	n/a	chr1:196032645-196032654
8	FOS	chr1:196032429-196032835	MCF10A-Er-Src	breast:	n/a	chr1:196032806-196032816 chr1:196032806-196032816 chr1:196032807-196032815
9	FOS	chr1:196032425-196032842	MCF10A-Er-Src	breast:	n/a	chr1:196032806-196032816 chr1:196032806-196032816 chr1:196032807-196032815
10	TCF12	chr1:196032340-196032937	A549	lung:	n/a	n/a
11	MAX	chr1:196032486-196032747	Hela-S3	cervix:	n/a	chr1:196032654-196032663
12	GATA3	chr1:196032574-196032708	SH-SY5Y	brain:	n/a	n/a
13	EP300	chr1:196032454-196032780	Hela-S3	cervix:	n/a	chr1:196032651-196032665
14	GATA3	chr1:196032286-196032916	SK-N-SH	brain:	n/a	chr1:196032525-196032541
15	FOS	chr1:196032427-196032841	MCF10A-Er-Src	breast:	n/a	chr1:196032806-196032816 chr1:196032806-196032816 chr1:196032807-196032815
16	TCF7L2	chr1:196032430-196032842	Hela-S3	cervix:	n/a	chr1:196032645-196032654
17	REST	chr1:196032430-196032796	A549	lung:	n/a	n/a
18	FOS	chr1:196032383-196032831	MCF10A-Er-Src	breast:	n/a	chr1:196032806-196032816 chr1:196032806-196032816 chr1:196032807-196032815
19	MYC	chr1:196032425-196032808	MCF10A-Er-Src	breast:	n/a	chr1:196032654-196032663
20	MYC	chr1:196032245-196032779	MCF10A-Er-Src	breast:	n/a	chr1:196032654-196032663
21	GATA3	chr1:196032377-196032918	A549	lung:	n/a	chr1:196032525-196032541
22	EP300	chr1:196032509-196032760	SK-N-SH_RA	brain:	n/a	chr1:196032651-196032665
23	NFIC	chr1:196032340-196032893	SK-N-SH	brain:	n/a	chr1:196032559-196032575 chr1:196032559-196032576
24	STAT3	chr1:196032481-196032757	MCF10A-Er-Src	breast:	n/a	n/a
25	TBP	chr1:196032524-196032811	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr1:196032486-196032826	Hela-S3	cervix:	n/a	n/a
27	FOSL2	chr1:196032338-196033013	A549	lung:	n/a	chr1:196032806-196032816 chr1:196032806-196032816 chr1:196032807-196032815

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196024750..196028209-chr1:196030222..196033690,4	K562	blood:

Variant related genes	Relation type
ENSG00000227421	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757765	chr1:195803764-196119454	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2758989	chr1:195803764-196119454	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv872948	chr1:195872295-196236425	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv470769	chr1:195901676-196187665	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv467339	chr1:195912579-196119310	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv548738	chr1:195912579-196119310	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv548740	chr1:195997563-196033535	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv534209	chr1:196011881-196208885	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv872951	chr1:196027872-196166278	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196032200-196032600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:196032400-196033200	Enhancers	A549	lung

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