Variant report

Variant	rs3845509
Chromosome Location	chr1:226408675-226408676
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	SIN3AK20	chr1:226408380-226408913	MCF-7	breast:	n/a	n/a
2	GATA3	chr1:226408507-226408888	T-47D	breast:	n/a	n/a
3	GATA3	chr1:226408412-226408991	MCF-7	breast:	n/a	n/a
4	GATA2	chr1:226408651-226408880	SH-SY5Y	brain:	n/a	n/a
5	FOXA1	chr1:226408405-226408772	T-47D	breast:	n/a	chr1:226408679-226408694
6	GATA3	chr1:226408638-226408986	MCF-7	breast:	n/a	n/a
7	RAD21	chr1:226408194-226408711	H1-hESC	embryonic stem cell:	n/a	chr1:226408481-226408500 chr1:226408245-226408264
8	GATA3	chr1:226408261-226408914	MCF-7	breast:	n/a	n/a
9	ZNF217	chr1:226408563-226408837	MCF-7	breast:	n/a	n/a
10	GATA3	chr1:226408568-226408748	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr1:226408499-226408924	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:226394091..226396385-chr1:226408482..226410465,2	K562	blood:
2	chr1:226401377..226404931-chr1:226406831..226410956,4	MCF-7	breast:
3	chr1:226312553..226313092-chr1:226408460..226409205,2	K562	blood:

Variant related genes	Relation type
MIXL1	TF binding region

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11810473	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12122761	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226375200-226411000	Weak transcription	Right Atrium	heart
2	chr1:226399000-226411200	Weak transcription	Gastric	stomach
3	chr1:226401000-226410800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:226403400-226410800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:226403600-226410800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:226407600-226408800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:226407600-226408800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:226407600-226408800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:226407600-226408800	Enhancers	K562	blood
10	chr1:226407800-226408800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:226407800-226408800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:226407800-226408800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:226407800-226408800	Flanking Active TSS	HepG2	liver
14	chr1:226407800-226409000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:226408000-226409000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:226408000-226409200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:226408400-226408800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:226408600-226408800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:226408600-226408800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr1:226408600-226409200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:226408600-226411000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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