Variant report

Variant	rs4468852
Chromosome Location	chr2:178753407-178753408
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10201731	0.80[ASN][1000 genomes]
rs10497480	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs11899873	0.86[ASN][1000 genomes]
rs12618253	0.81[ASN][1000 genomes]
rs13018609	0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs13021998	0.81[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs1370661	0.82[JPT][hapmap]
rs1405647	0.82[JPT][hapmap]
rs1405648	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1405650	0.82[JPT][hapmap]
rs1405651	0.82[JPT][hapmap]
rs1438051	0.82[JPT][hapmap]
rs1438064	0.81[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs16865819	0.87[ASN][1000 genomes]
rs16865901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866000	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs17329531	0.81[CHB][hapmap];0.85[CHD][hapmap];0.85[ASN][1000 genomes]
rs17330075	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs1837164	0.82[JPT][hapmap]
rs1898587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083156	0.85[ASN][1000 genomes]
rs2118482	0.82[JPT][hapmap]
rs2365899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2695091	0.82[JPT][hapmap]
rs2695092	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2695098	0.82[JPT][hapmap]
rs2695099	0.82[JPT][hapmap]
rs2695740	0.82[JPT][hapmap]
rs2695741	0.81[JPT][hapmap]
rs2695742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3108451	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs34365395	0.87[ASN][1000 genomes]
rs35873373	0.87[ASN][1000 genomes]
rs3770054	0.81[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs3915272	0.82[JPT][hapmap]
rs56748987	0.85[ASN][1000 genomes]
rs6738098	0.81[CHB][hapmap]
rs71423509	0.85[ASN][1000 genomes]
rs753346	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs7570981	0.88[ASW][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.89[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7588062	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7591800	0.81[CHB][hapmap]
rs7592459	0.85[ASN][1000 genomes]
rs7595421	0.85[ASN][1000 genomes]
rs7595479	0.81[CHB][hapmap]
rs7609487	0.81[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv2756313	chr2:178750158-178768683	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2754225	chr2:178750493-178768493	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178741000-178759200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:178746000-178759200	Weak transcription	Fetal Intestine Small	intestine
3	chr2:178751000-178754200	Enhancers	Liver	Liver
4	chr2:178751800-178755600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:178752600-178753600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:178752600-178754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:178753200-178755400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:178753400-178753600	Enhancers	Psoas Muscle	Psoas
9	chr2:178753400-178753800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:178753400-178753800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:178753400-178755200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:178753400-178755200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:178753400-178755400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:178753400-178755400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:178753400-178755600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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