Variant report

Variant	rs4473708
Chromosome Location	chr4:57410548-57410549
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:57331872..57334097-chr4:57409955..57412226,2	K562	blood:
2	chr4:57403751..57405504-chr4:57409367..57410934,2	MCF-7	breast:
3	chr4:57404387..57407422-chr4:57408370..57410710,3	K562	blood:
4	chr4:57253237..57254163-chr4:57410431..57411376,2	MCF-7	breast:
5	chr4:57410442..57411299-chr4:57666045..57666637,6	MCF-7	breast:
6	chr4:57300340..57303210-chr4:57409200..57410900,2	MCF-7	breast:
7	chr4:57290763..57291840-chr4:57410409..57411390,5	MCF-7	breast:
8	chr4:57395510..57398242-chr4:57409161..57410740,2	K562	blood:
9	chr4:57301315..57304319-chr4:57408879..57411014,4	K562	blood:
10	chr4:57301315..57303904-chr4:57409260..57411014,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157426	Chromatin interaction
ENSG00000269921	Chromatin interaction
ENSG00000128059	Chromatin interaction
ENSG00000174780	Chromatin interaction
ENSG00000249693	Chromatin interaction
ENSG00000128050	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10428296	0.90[CEU][hapmap]
rs12642524	0.81[EUR][1000 genomes]
rs4128534	0.83[JPT][hapmap]
rs4311366	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4623083	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4631106	0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61492226	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62310214	0.80[EUR][1000 genomes]
rs62310215	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62310216	0.81[EUR][1000 genomes]
rs62310217	0.81[EUR][1000 genomes]
rs62310218	0.81[EUR][1000 genomes]
rs62310220	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62310222	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62310223	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv829941	chr4:57359551-57553136	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57397800-57410600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:57399400-57410800	Weak transcription	K562	blood
3	chr4:57404600-57411000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:57407200-57410600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:57407200-57411000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:57408000-57410800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:57408400-57410800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:57408600-57410800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:57410200-57410800	Enhancers	Right Ventricle	heart
10	chr4:57410400-57410600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:57410400-57410600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:57410400-57410600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr4:57410400-57410600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr4:57410400-57410600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:57410400-57410600	Enhancers	Brain Anterior Caudate	brain
16	chr4:57410400-57410600	Active TSS	Colon Smooth Muscle	Colon
17	chr4:57410400-57410800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:57410400-57410800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr4:57410400-57410800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr4:57410400-57410800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:57410400-57410800	Enhancers	Brain Hippocampus Middle	brain
22	chr4:57410400-57411200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr4:57410400-57411400	Enhancers	Brain Substantia Nigra	brain

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