Variant report

Variant	rs925244
Chromosome Location	chr4:126314569-126314570
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	STAT3	chr4:126314537-126314731	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
FAT4	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11733424	1.00[AMR][1000 genomes]
rs11942648	1.00[AMR][1000 genomes]
rs12711125	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs1396700	1.00[AMR][1000 genomes]
rs1509288	1.00[AMR][1000 genomes]
rs2055768	1.00[AMR][1000 genomes]
rs2102461	1.00[AMR][1000 genomes]
rs2457262	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs2663253	1.00[AMR][1000 genomes]
rs2663258	1.00[AMR][1000 genomes]
rs2663262	1.00[AMR][1000 genomes]
rs2663284	1.00[AMR][1000 genomes]
rs2710537	1.00[AMR][1000 genomes]
rs2710565	1.00[AMR][1000 genomes]
rs2710577	1.00[AMR][1000 genomes]
rs2710581	1.00[AMR][1000 genomes]
rs2710585	1.00[AMR][1000 genomes]
rs2710586	1.00[AMR][1000 genomes]
rs2710588	1.00[AMR][1000 genomes]
rs28470542	1.00[AMR][1000 genomes]
rs28871071	1.00[AMR][1000 genomes]
rs4834029	1.00[AMR][1000 genomes]
rs6844307	1.00[AMR][1000 genomes]
rs906793	1.00[AMR][1000 genomes]
rs906794	1.00[AMR][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	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv470070	chr4:126299145-126408586	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126290800-126317600	Weak transcription	Fetal Brain Male	brain
2	chr4:126308400-126336000	Weak transcription	Left Ventricle	heart
3	chr4:126310800-126317200	Weak transcription	Fetal Kidney	kidney
4	chr4:126310800-126336000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:126311000-126317600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:126311600-126336000	Weak transcription	Aorta	Aorta
7	chr4:126311800-126318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:126311800-126318400	Weak transcription	Fetal Lung	lung
9	chr4:126311800-126323000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:126311800-126341800	Weak transcription	Fetal Heart	heart
11	chr4:126311800-126343600	Weak transcription	Fetal Stomach	stomach
12	chr4:126312000-126315000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:126312000-126315000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:126312000-126315000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:126312000-126319400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:126312000-126338200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:126312000-126354400	Weak transcription	HSMM	muscle
18	chr4:126312200-126342800	Weak transcription	NHLF	lung
19	chr4:126312800-126315400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:126312800-126318200	Weak transcription	NHEK	skin
21	chr4:126313400-126314600	Enhancers	Colon Smooth Muscle	Colon
22	chr4:126313400-126316000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:126313800-126315200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:126313800-126315400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:126314000-126314600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:126314000-126314600	Enhancers	Rectal Smooth Muscle	rectum
27	chr4:126314000-126314600	Flanking Active TSS	HUVEC	blood vessel
28	chr4:126314000-126315200	Enhancers	NHDF-Ad	bronchial
29	chr4:126314000-126315600	Enhancers	Adipose Nuclei	Adipose
30	chr4:126314000-126316000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:126314000-126316600	Enhancers	Osteobl	bone
32	chr4:126314400-126314600	Enhancers	Brain Substantia Nigra	brain
33	chr4:126314400-126315800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:126314400-126319400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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