Variant report

Variant	rs72931230
Chromosome Location	chr4:125635331-125635332
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	POLR2A	chr4:125632157-125635624	MCF10A-Er-Src	breast:	n/a	n/a
2	IRF1	chr4:125635306-125635490	K562	blood:	n/a	chr4:125635382-125635396 chr4:125635385-125635395

No.	Distal block	Cell Line	Cell type
1	chr4:125607408..125609812-chr4:125634396..125636485,2	K562	blood:
2	chr4:125634057..125636507-chr4:125646321..125649119,3	MCF-7	breast:
3	chr4:125634681..125637272-chr4:125648619..125650581,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD50	TF binding region

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12507238	0.91[AFR][1000 genomes]
rs17008500	0.91[AFR][1000 genomes]
rs17008503	0.91[AFR][1000 genomes]
rs72931227	0.90[AFR][1000 genomes]
rs72931232	0.91[AFR][1000 genomes]
rs72931241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343011	chr4:125632527-125635375	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 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	chr4:125634800-125635400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:125634800-125635400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:125634800-125635400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:125634800-125636400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:125634800-125639200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:125635000-125635400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:125635000-125635600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:125635000-125637600	Enhancers	Fetal Lung	lung
9	chr4:125635000-125638000	Weak transcription	Dnd41	blood
10	chr4:125635000-125639800	Weak transcription	HepG2	liver
11	chr4:125635000-125644800	Weak transcription	NHDF-Ad	bronchial
12	chr4:125635200-125635400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:125635200-125635400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:125635200-125635400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:125635200-125635400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:125635200-125635600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:125635200-125636000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:125635200-125636400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:125635200-125636600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:125635200-125638200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:125635200-125648000	Weak transcription	HSMM	muscle

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