Variant report

Variant	rs4308986
Chromosome Location	chr1:222015254-222015255
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	chr1:222015219-222015419	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222014971..222016915-chr1:222026148..222029054,2	K562	blood:

Variant related genes	Relation type
RNU6-403P	TF binding region
ENSG00000227925	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10863664	0.95[EUR][1000 genomes]
rs11118874	0.82[EUR][1000 genomes]
rs11118875	0.93[EUR][1000 genomes]
rs12125690	0.86[YRI][hapmap]
rs12130910	0.93[EUR][1000 genomes]
rs35090621	0.94[EUR][1000 genomes]
rs4384245	0.93[EUR][1000 genomes]
rs4528124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6604675	0.93[EUR][1000 genomes]
rs6604676	0.93[EUR][1000 genomes]
rs6604677	0.93[EUR][1000 genomes]
rs6691170	0.81[EUR][1000 genomes]
rs6699132	0.93[EUR][1000 genomes]
rs7519761	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7544478	0.93[EUR][1000 genomes]
rs7550628	0.93[EUR][1000 genomes]
rs9441981	0.97[ASN][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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222000600-222019000	Weak transcription	Lung	lung
2	chr1:222005800-222019000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:222008800-222018800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:222011600-222015600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:222011600-222018800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:222011800-222015600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:222011800-222016000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:222012600-222015400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:222012600-222015600	Enhancers	HSMMtube	muscle
10	chr1:222012600-222015800	Enhancers	HSMM	muscle
11	chr1:222012800-222015400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:222012800-222015600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:222012800-222015600	Enhancers	NHDF-Ad	bronchial
14	chr1:222013000-222015600	Enhancers	NHLF	lung
15	chr1:222013000-222015800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:222013000-222015800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:222013600-222018800	Weak transcription	NH-A	brain
18	chr1:222013800-222015400	Enhancers	Fetal Lung	lung
19	chr1:222014000-222015400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:222014000-222015600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:222014000-222018600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:222014200-222019000	Weak transcription	A549	lung
23	chr1:222014400-222022000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:222014600-222018800	Weak transcription	Stomach Mucosa	stomach
25	chr1:222014600-222019000	Weak transcription	Esophagus	oesophagus
26	chr1:222014600-222019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:222015000-222015400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:222015000-222017800	Weak transcription	HMEC	breast
29	chr1:222015000-222018200	Weak transcription	Hela-S3	cervix
30	chr1:222015000-222018600	Weak transcription	NHEK	skin
31	chr1:222015000-222019000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:222015000-222019200	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:222015000-222019200	Weak transcription	HUVEC	blood vessel
34	chr1:222015000-222022200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:222015200-222017800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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