Variant report

Variant	rs28729861
Chromosome Location	chr3:115754185-115754186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:115751729..115754397-chr3:115759672..115761602,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13324008	0.89[AMR][1000 genomes]
rs28406209	1.00[AMR][1000 genomes]
rs28416469	1.00[AMR][1000 genomes]
rs9827294	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931948	chr3:114884574-115802562	Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2760762	chr3:115476222-115807650	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv829685	chr3:115643521-115812913	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1012260	chr3:115680931-115935968	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2756413	chr3:115721898-115908480	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1001538	chr3:115746561-115791116	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115743200-115758200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:115748400-115757200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:115751800-115754200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:115751800-115755200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:115752000-115755200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:115753000-115754400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:115753000-115754400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:115753200-115754200	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:115753200-115757400	Weak transcription	Brain Anterior Caudate	brain
10	chr3:115753200-115765000	Weak transcription	Brain Angular Gyrus	brain
11	chr3:115753400-115755000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr3:115753400-115756200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:115753600-115754400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:115753600-115758200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:115753800-115757400	Weak transcription	Fetal Brain Female	brain
16	chr3:115753800-115757600	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:115753800-115758200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:115753800-115758600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:115753800-115767400	Weak transcription	Fetal Lung	lung
20	chr3:115754000-115754600	Weak transcription	K562	blood
21	chr3:115754000-115770400	Weak transcription	Brain Substantia Nigra	brain

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