Variant report

Variant	rs16823448
Chromosome Location	chr2:183485704-183485705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183485234..183486908-chr2:183488749..183490647,2	K562	blood:
2	chr2:183485446..183488008-chr2:183493899..183496895,2	K562	blood:
3	chr2:183484463..183486734-chr2:183489147..183491693,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10189496	0.85[ASN][1000 genomes]
rs10204014	0.85[ASN][1000 genomes]
rs10207865	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10211307	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497610	0.86[AMR][1000 genomes]
rs12693315	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12693316	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12693317	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12693318	0.86[AMR][1000 genomes]
rs12990399	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12991615	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023449	1.00[ASN][1000 genomes]
rs13382205	0.86[AMR][1000 genomes]
rs13389338	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13389590	0.86[AMR][1000 genomes]
rs13402255	0.85[ASN][1000 genomes]
rs13416838	0.86[AMR][1000 genomes]
rs13419447	0.86[AMR][1000 genomes]
rs13419727	0.86[AMR][1000 genomes]
rs13420165	0.83[AMR][1000 genomes]
rs13423751	0.86[AMR][1000 genomes]
rs13426633	0.86[AMR][1000 genomes]
rs13432896	0.86[AMR][1000 genomes]
rs16823445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823449	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16823467	1.00[ASN][1000 genomes]
rs34984487	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35102928	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35615098	0.82[AMR][1000 genomes]
rs35750735	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71427857	1.00[ASN][1000 genomes]
rs7577744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv875480	chr2:183442443-183489249	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1837855	chr2:183452578-183499313	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv999603	chr2:183465151-183551522	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183459600-183493800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183478600-183486000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:183482000-183485800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:183482000-183485800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:183482000-183487000	Weak transcription	Fetal Stomach	stomach
6	chr2:183482400-183486800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:183483600-183485800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:183483600-183486800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:183484200-183490200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:183485400-183485800	Enhancers	HSMMtube	muscle
11	chr2:183485400-183486400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:183485600-183485800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr2:183485600-183486000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:183485600-183486000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:183485600-183486000	Enhancers	K562	blood
16	chr2:183485600-183486200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:183485600-183486200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:183485600-183487200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:183485600-183487200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:183485600-183487600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:183485600-183487600	Enhancers	Colon Smooth Muscle	Colon
22	chr2:183485600-183487800	Enhancers	Rectal Smooth Muscle	rectum

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