Variant report

Variant	rs532061210
Chromosome Location	chr5:118326462-118326463
allele	A/C
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	FOS	chr5:118326416-118326511	MCF10A-Er-Src	breast:	n/a	chr5:118326467-118326477 chr5:118326466-118326478 chr5:118326467-118326477 chr5:118326467-118326477 chr5:118326468-118326476
2	STAT3	chr5:118326419-118326592	MCF10A-Er-Src	breast:	n/a	chr5:118326478-118326486 chr5:118326476-118326487
3	FOSL1	chr5:118326262-118326528	K562	blood:	n/a	chr5:118326467-118326477 chr5:118326466-118326478 chr5:118326467-118326477 chr5:118326467-118326477 chr5:118326468-118326476
4	TAL1	chr5:118326456-118326720	K562	blood:	n/a	n/a
5	GATA3	chr5:118326202-118326770	MCF-7	breast:	n/a	n/a
6	NR2F2	chr5:118326245-118326732	MCF-7	breast:	n/a	n/a
7	STAT3	chr5:118326321-118326622	MCF10A-Er-Src	breast:	n/a	chr5:118326478-118326486 chr5:118326476-118326487
8	RCOR1	chr5:118326315-118326656	K562	blood:	n/a	n/a
9	MAFF	chr5:118326356-118326631	K562	blood:	n/a	n/a
10	GATA3	chr5:118326235-118326667	T-47D	breast:	n/a	n/a
11	FOS	chr5:118326340-118326592	MCF10A-Er-Src	breast:	n/a	chr5:118326467-118326477 chr5:118326466-118326478 chr5:118326467-118326477 chr5:118326467-118326477 chr5:118326468-118326476
12	TBL1XR1	chr5:118326362-118326674	K562	blood:	n/a	n/a
13	EP300	chr5:118326367-118326616	K562	blood:	n/a	chr5:118326501-118326515
14	STAT3	chr5:118326321-118326593	MCF10A-Er-Src	breast:	n/a	chr5:118326478-118326486 chr5:118326476-118326487
15	FOS	chr5:118326367-118326576	MCF10A-Er-Src	breast:	n/a	chr5:118326467-118326477 chr5:118326466-118326478 chr5:118326467-118326477 chr5:118326467-118326477 chr5:118326468-118326476
16	BHLHE40	chr5:118326263-118326578	K562	blood:	n/a	n/a
17	RCOR1	chr5:118326332-118326743	K562	blood:	n/a	n/a
18	JUND	chr5:118326265-118326690	K562	blood:	n/a	chr5:118326467-118326477 chr5:118326466-118326478 chr5:118326467-118326477 chr5:118326467-118326477 chr5:118326468-118326476
19	TEAD4	chr5:118326217-118326766	K562	blood:	n/a	n/a
20	ELF1	chr5:118326323-118326530	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118323861..118326778-chr5:118787539..118789741,2	MCF-7	breast:
2	chr5:118322938..118326606-chr5:118602920..118605792,4	MCF-7	breast:

Variant related genes	Relation type
DTWD2	TF binding region
ENSG00000133835	Chromatin interaction
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017548	chr5:118276479-118358394	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118324800-118326800	Enhancers	Stomach Mucosa	stomach
2	chr5:118324800-118327600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:118325800-118326600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:118326000-118326800	Enhancers	Fetal Intestine Large	intestine
5	chr5:118326000-118327000	Enhancers	Fetal Intestine Small	intestine
6	chr5:118326200-118326800	Enhancers	K562	blood
7	chr5:118326200-118326800	Enhancers	NHEK	skin
8	chr5:118326400-118326600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:118326400-118326600	Enhancers	HMEC	breast
10	chr5:118326400-118326800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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