Variant report

Variant	rs142329250
Chromosome Location	chr1:168342629-168342630
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	CEBPD	chr1:168342121-168342789	K562	blood:	n/a	n/a
2	TEAD4	chr1:168342157-168342684	K562	blood:	n/a	n/a
3	TEAD4	chr1:168342189-168342752	K562	blood:	n/a	n/a
4	GATA2	chr1:168341595-168342635	K562	blood:	n/a	chr1:168341840-168341847 chr1:168342173-168342182
5	EP300	chr1:168342152-168342659	K562	blood:	n/a	n/a
6	CBX3	chr1:168341561-168342695	K562	blood:	n/a	n/a
7	ATF1	chr1:168342118-168342700	K562	blood:	n/a	n/a
8	CEBPD	chr1:168342091-168342677	K562	blood:	n/a	n/a
9	HMGN3	chr1:168342197-168342843	K562	blood:	n/a	n/a
10	JUND	chr1:168341627-168342692	K562	blood:	n/a	chr1:168342175-168342183 chr1:168342173-168342185
11	CEBPB	chr1:168342049-168342676	K562	blood:	n/a	n/a
12	NR2F2	chr1:168341990-168342702	K562	blood:	n/a	n/a
13	YY1	chr1:168342271-168342635	K562	blood:	n/a	n/a
14	NR2F2	chr1:168341467-168342742	K562	blood:	n/a	n/a
15	GATA1	chr1:168341967-168342851	K562	blood:	n/a	chr1:168342173-168342182
16	GATA1	chr1:168341490-168342781	PBDE	blood:	n/a	chr1:168341840-168341847 chr1:168342173-168342182
17	GATA2	chr1:168342114-168342645	K562	blood:	n/a	chr1:168342173-168342182
18	BHLHE40	chr1:168341818-168342686	K562	blood:	n/a	n/a
19	ELF1	chr1:168342107-168342741	K562	blood:	n/a	n/a
20	TAL1	chr1:168342177-168342703	K562	blood:	n/a	chr1:168342594-168342602
21	RCOR1	chr1:168341533-168342699	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:168338940..168340901-chr1:168341151..168343365,2	MCF-7	breast:
2	chr1:168187433..168189118-chr1:168341371..168344286,2	K562	blood:
3	chr1:168341145..168343864-chr1:168357058..168358969,2	K562	blood:

Variant related genes	Relation type
MIR557	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	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS 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	19 gene(s)	inside rSNPs	diseases
2	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv872527	chr1:168327555-168375973	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1013200	chr1:168332730-168357759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv818556	chr1:168338069-168343349	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3452560	chr1:168339759-168343856	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3452561	chr1:168339932-168343722	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3452562	chr1:168339932-168343722	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv872528	chr1:168341866-168384168	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168338000-168343000	Weak transcription	Aorta	Aorta
2	chr1:168338000-168343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:168338200-168343400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:168338400-168348200	Weak transcription	HepG2	liver
5	chr1:168341200-168342800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:168341400-168342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:168341600-168342800	Enhancers	Fetal Heart	heart
8	chr1:168341600-168342800	Flanking Active TSS	K562	blood
9	chr1:168341800-168342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:168341800-168343400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:168342000-168343400	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:168342200-168343800	Weak transcription	Right Ventricle	heart
13	chr1:168342600-168343600	Weak transcription	Placenta	Placenta
14	chr1:168342600-168347400	Weak transcription	Right Atrium	heart

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