Variant report

Variant	rs61744328
Chromosome Location	chr3:119451232-119451233
allele	C/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	PBX3	chr3:119450740-119451313	SK-N-SH	brain:	n/a	chr3:119450932-119450941
2	FOSL2	chr3:119450719-119451281	SK-N-SH	brain:	n/a	chr3:119451012-119451021 chr3:119451015-119451027 chr3:119451013-119451020 chr3:119451010-119451022
3	FOS	chr3:119450804-119451360	HUVEC	blood vessel:	n/a	chr3:119451012-119451021 chr3:119451015-119451027 chr3:119451013-119451020 chr3:119451010-119451021 chr3:119451010-119451022
4	PBX3	chr3:119450715-119451259	SK-N-SH	brain:	n/a	chr3:119450932-119450941
5	TCF12	chr3:119450622-119451370	SK-N-SH	brain:	n/a	n/a
6	JUND	chr3:119450728-119451303	SK-N-SH	brain:	n/a	chr3:119451012-119451021 chr3:119451015-119451027 chr3:119451013-119451020 chr3:119451010-119451022
7	TCF12	chr3:119450662-119451347	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
MAATS1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28697000	1.00[AMR][1000 genomes]
rs72554006	1.00[AMR][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	nsv460834	chr3:119384163-119458851	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv591390	chr3:119384163-119458851	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119422200-119458200	Weak transcription	Aorta	Aorta
2	chr3:119423000-119463000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:119423000-119464400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:119423200-119464200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:119423200-119471600	Weak transcription	Fetal Kidney	kidney
6	chr3:119423400-119458200	Weak transcription	Brain Substantia Nigra	brain
7	chr3:119428800-119469200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:119431200-119470400	Weak transcription	Gastric	stomach
9	chr3:119435400-119478200	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:119436800-119462800	Weak transcription	Pancreas	Pancrea
11	chr3:119444000-119453000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:119450400-119451400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:119450400-119451400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:119450400-119451600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:119450400-119452400	Enhancers	HUVEC	blood vessel
16	chr3:119450400-119452600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:119450400-119463000	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:119450600-119451400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:119450600-119453200	Strong transcription	Ovary	ovary
20	chr3:119450600-119474200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:119451000-119451400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:119451000-119456400	Weak transcription	Osteobl	bone
23	chr3:119451000-119456600	Weak transcription	Brain Anterior Caudate	brain
24	chr3:119451000-119473400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:119451200-119451400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:119451200-119465000	Weak transcription	Fetal Brain Female	brain
27	chr3:119451200-119475200	Weak transcription	Fetal Brain Male	brain

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