Variant report

Variant	rs1112983
Chromosome Location	chr2:168347864-168347865
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11899757	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12105560	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1227120	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1238298	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12466695	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996381	0.93[EUR][1000 genomes]
rs13032189	0.90[EUR][1000 genomes]
rs1431908	0.86[ASN][1000 genomes]
rs1541889	0.87[EUR][1000 genomes]
rs1653420	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653425	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1653430	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16853648	0.88[EUR][1000 genomes]
rs1730713	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1730725	0.88[EUR][1000 genomes]
rs1813255	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1919854	0.92[EUR][1000 genomes]
rs1919855	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983514	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35523753	0.90[EUR][1000 genomes]
rs35580310	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35827395	0.94[EUR][1000 genomes]
rs4667955	0.88[EUR][1000 genomes]
rs6433000	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710395	0.92[EUR][1000 genomes]
rs67697939	0.80[EUR][1000 genomes]
rs7567362	0.92[EUR][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	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3388045	chr2:168289403-168424317	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv963936	chr2:168347505-168352736	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168337000-168355400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:168337200-168348200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:168338200-168348200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:168338200-168366000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:168338400-168349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:168338400-168352400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:168341600-168352600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:168341600-168352800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:168341600-168365200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:168342200-168352400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:168343600-168352400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:168346200-168358800	Weak transcription	Fetal Lung	lung
13	chr2:168346800-168349800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:168347000-168348000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:168347200-168348400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:168347400-168354000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:168347600-168352600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:168347800-168352800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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