Variant report

Variant	rs73847022
Chromosome Location	chr4:128553199-128553200
allele	G/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	E2F4	chr4:128553142-128553262	MCF10A-Er-Src	breast:	n/a	n/a
2	JUN	chr4:128552337-128553232	K562	blood:	n/a	chr4:128552760-128552767 chr4:128552760-128552769 chr4:128552758-128552770 chr4:128552759-128552769 chr4:128552760-128552768 chr4:128552759-128552768

No.	Distal block	Cell Line	Cell type
1	chr4:128553197..128555974-chr4:128981706..128984336,2	K562	blood:
2	chr4:128547130..128549718-chr4:128550417..128553383,2	K562	blood:
3	chr4:128543078..128545882-chr4:128552977..128554729,2	MCF-7	breast:

Variant related genes	Relation type
INTU	TF binding region
ENSG00000164066	Chromatin interaction
ENSG00000138709	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55856325	1.00[AMR][1000 genomes]
rs57569721	1.00[AMR][1000 genomes]
rs61002561	1.00[AMR][1000 genomes]
rs6827230	1.00[AMR][1000 genomes]
rs6836676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847013	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847014	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847020	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847024	1.00[AMR][1000 genomes]
rs73847026	1.00[AMR][1000 genomes]
rs7654838	1.00[AMR][1000 genomes]
rs7655450	1.00[AMR][1000 genomes]
rs7689666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9942182	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9942183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1029214	chr4:128292215-128683123	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537247	chr4:128292215-128683123	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv879916	chr4:128422400-128694288	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv879917	chr4:128478408-128841252	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv1800085	chr4:128502675-128557864	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv830056	chr4:128517139-128676557	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv879918	chr4:128543742-128694288	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv879919	chr4:128543742-128697519	Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128545600-128553400	Weak transcription	Fetal Brain Male	brain
2	chr4:128548200-128553200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:128548200-128553400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:128550800-128553600	Weak transcription	Esophagus	oesophagus
5	chr4:128551000-128553200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:128551400-128553200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:128552200-128553200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:128552200-128553200	Enhancers	HMEC	breast
9	chr4:128552400-128553200	Weak transcription	Brain Angular Gyrus	brain
10	chr4:128552400-128553200	Enhancers	NHEK	skin
11	chr4:128552400-128553400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:128552600-128553200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:128552600-128553200	Weak transcription	Brain Anterior Caudate	brain
14	chr4:128552600-128553400	Enhancers	HUVEC	blood vessel
15	chr4:128552800-128553200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:128552800-128553200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:128552800-128553400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:128552800-128553400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:128552800-128553400	Weak transcription	Psoas Muscle	Psoas
20	chr4:128552800-128553400	Weak transcription	NHLF	lung
21	chr4:128552800-128553600	Weak transcription	K562	blood
22	chr4:128553000-128553200	Weak transcription	Adipose Nuclei	Adipose
23	chr4:128553000-128553400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:128553000-128554800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr4:128553000-128555200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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