Variant report

Variant	rs2012448
Chromosome Location	chr6:63946407-63946408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12213195	0.88[EUR][1000 genomes]
rs12664417	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1587814	0.93[ASN][1000 genomes]
rs16894126	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16894193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4710422	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72872930	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019831	chr6:63279677-64230736	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1025099	chr6:63514227-64055649	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv538270	chr6:63682752-64147241	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2758058	chr6:63706622-63985889	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2759434	chr6:63706622-63985889	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv33308	chr6:63919357-63956379	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2762595	chr6:63931504-63948305	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv517212	chr6:63931621-63948305	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv970133	chr6:63936480-63950132	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63943000-63946800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:63946200-63946600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:63946200-63946800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:63946200-63947200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:63946200-63947200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:63946200-63947400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:63946200-63947400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:63946200-63947600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:63946400-63946800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr6:63946400-63946800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:63946400-63946800	Enhancers	Fetal Lung	lung
12	chr6:63946400-63947200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:63946400-63947400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:63946400-63947400	Enhancers	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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