Variant report

Variant	rs16830616
Chromosome Location	chr2:152884605-152884606
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	chr2:152883871..152886522-chr2:152888183..152890031,2	K562	blood:
2	chr2:152882906..152885628-chr2:153031018..153032994,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10190546	0.93[YRI][hapmap]
rs10930888	0.89[EUR][1000 genomes]
rs10930892	0.89[CEU][hapmap]
rs12471157	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12477734	0.83[AMR][1000 genomes]
rs12616521	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12619485	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16830598	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1949521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2139417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2345160	0.81[CHB][hapmap]
rs2881059	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35478891	0.88[EUR][1000 genomes]
rs3845845	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4146376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.89[EUR][1000 genomes]
rs4362556	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4664075	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4664076	0.87[CHB][hapmap];0.93[YRI][hapmap]
rs4664513	0.87[CHB][hapmap]
rs58248711	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58402146	0.89[EUR][1000 genomes]
rs58761979	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61156093	0.89[EUR][1000 genomes]
rs6433726	0.82[CHB][hapmap]
rs6433777	0.87[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs6721518	0.87[CHB][hapmap]
rs6728019	0.88[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6755776	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes]
rs72621651	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7604835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7607695	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes]
rs9917162	0.89[EUR][1000 genomes]
rs9917211	0.89[EUR][1000 genomes]
rs9917218	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv875290	chr2:152803129-152920126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152879000-152887600	Weak transcription	Fetal Brain Male	brain
2	chr2:152882600-152884800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:152882600-152884800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:152882600-152884800	Weak transcription	NHDF-Ad	bronchial
5	chr2:152882600-152885000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:152882600-152885000	Weak transcription	Fetal Kidney	kidney
7	chr2:152882600-152885200	Weak transcription	Fetal Lung	lung
8	chr2:152882600-152887400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:152882600-152887400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:152882600-152887800	Weak transcription	Fetal Brain Female	brain
11	chr2:152882800-152889600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:152882800-152894200	Weak transcription	Brain Anterior Caudate	brain
13	chr2:152883400-152884800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:152883400-152885000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:152884000-152885200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:152884200-152885200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:152884200-152887400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:152884200-152889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:152884400-152885600	Enhancers	GM12878-XiMat	blood
20	chr2:152884400-152885600	Enhancers	NH-A	brain
21	chr2:152884600-152885400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:152884600-152885600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:152884600-152885600	Enhancers	HMEC	breast
24	chr2:152884600-152885600	Enhancers	Osteobl	bone
25	chr2:152884600-152885800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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