Variant report

Variant	rs376238929
Chromosome Location	chr2:209087356-209087357
allele	A/G
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	ATF3	chr2:209087130-209087430	K562	blood:	n/a	n/a
2	FOS	chr2:209087141-209087503	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr2:209087148-209087503	MCF10A-Er-Src	breast:	n/a	n/a
4	ARID3A	chr2:209087199-209087560	K562	blood:	n/a	n/a
5	FOS	chr2:209087184-209087440	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr2:209087214-209087357	MCF10A-Er-Src	breast:	n/a	n/a
7	ATF1	chr2:209087055-209087498	K562	blood:	n/a	n/a
8	JUND	chr2:209087184-209087484	HepG2	liver:	n/a	n/a
9	JUND	chr2:209087120-209087544	K562	blood:	n/a	n/a
10	JUN	chr2:209086764-209087764	K562	blood:	n/a	n/a
11	JUN	chr2:209087139-209087792	K562	blood:	n/a	n/a
12	BHLHE40	chr2:209087239-209087419	K562	blood:	n/a	n/a
13	CEBPB	chr2:209086952-209087445	K562	blood:	n/a	n/a
14	EP300	chr2:209087244-209087550	K562	blood:	n/a	n/a
15	CEBPB	chr2:209086994-209087575	HCT-116	colon:	n/a	chr2:209087453-209087470
16	MAFK	chr2:209087223-209087620	K562	blood:	n/a	chr2:209087586-209087597 chr2:209087588-209087605
17	ZMIZ1	chr2:209087213-209087452	K562	blood:	n/a	n/a
18	JUN	chr2:209087150-209087523	K562	blood:	n/a	n/a
19	MAFF	chr2:209087255-209087457	K562	blood:	n/a	n/a
20	TBL1XR1	chr2:209086883-209087420	K562	blood:	n/a	n/a
21	RCOR1	chr2:209086678-209087481	K562	blood:	n/a	n/a
22	MAZ	chr2:209087206-209087553	K562	blood:	n/a	chr2:209087367-209087377

Variant related genes	Relation type
TPT1P2	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv875751	chr2:209042963-209110784	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv525747	chr2:209087335-209116753	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209086600-209087600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:209086800-209087400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:209086800-209087600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:209086800-209087600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:209086800-209087600	Enhancers	K562	blood
6	chr2:209086800-209087600	Enhancers	NHEK	skin
7	chr2:209086800-209088200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:209086800-209088200	Enhancers	HMEC	breast
9	chr2:209087000-209087400	Enhancers	HSMM	muscle
10	chr2:209087000-209087600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:209087000-209087600	Enhancers	Osteobl	bone
12	chr2:209087000-209087800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:209087200-209087600	Enhancers	NH-A	brain

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