Variant report

Variant	rs1450460
Chromosome Location	chr4:121844888-121844889
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	chr4:121844865-121844971	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PRDM5	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11098590	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11098591	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1551079	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs168224	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs168225	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17051279	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167204	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2390060	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28611188	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3114956	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs343169	1.00[EUR][1000 genomes]
rs343171	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs343172	1.00[EUR][1000 genomes]
rs343193	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs343196	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs343199	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4274874	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72923591	1.00[EUR][1000 genomes];1.00[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	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3405799	chr4:121842552-121845050	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121842800-121845000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr4:121842800-121845000	Active TSS	NHLF	lung
3	chr4:121843000-121845000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:121844200-121845000	Flanking Active TSS	Osteobl	bone
5	chr4:121844400-121845000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr4:121844400-121845000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:121844400-121845000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr4:121844600-121845000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:121844600-121845000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:121844600-121845000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:121844600-121845000	Enhancers	Brain Cingulate Gyrus	brain
12	chr4:121844600-121845000	Enhancers	Fetal Stomach	stomach
13	chr4:121844800-121845000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr4:121844800-121845000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:121844800-121845000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:121844800-121845000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr4:121844800-121845000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:121844800-121845000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:121844800-121845000	Enhancers	Adipose Nuclei	Adipose
20	chr4:121844800-121845000	Enhancers	Colon Smooth Muscle	Colon
21	chr4:121844800-121845000	Enhancers	Duodenum Mucosa	Duodenum
22	chr4:121844800-121845000	Active TSS	Fetal Heart	heart
23	chr4:121844800-121845000	Enhancers	Fetal Intestine Large	intestine
24	chr4:121844800-121845000	Enhancers	Fetal Kidney	kidney
25	chr4:121844800-121845000	Enhancers	Fetal Lung	lung
26	chr4:121844800-121845000	Enhancers	Ovary	ovary
27	chr4:121844800-121845000	Enhancers	Rectal Smooth Muscle	rectum
28	chr4:121844800-121845000	Enhancers	Stomach Smooth Muscle	stomach
29	chr4:121844800-121845200	Enhancers	Fetal Intestine Small	intestine
30	chr4:121844800-121845400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:121844800-121845600	Weak transcription	Pancreas	Pancrea
32	chr4:121844800-121846400	Enhancers	HUVEC	blood vessel
33	chr4:121844800-121848800	Weak transcription	NHDF-Ad	bronchial

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