Variant report

Variant	rs1414751
Chromosome Location	chr6:142311653-142311654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2039607	0.98[EUR][1000 genomes]
rs4551186	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6902780	0.82[JPT][hapmap]
rs6927937	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7741528	0.98[EUR][1000 genomes]
rs9373333	0.80[CEU][hapmap];0.82[JPT][hapmap]
rs9385984	0.98[EUR][1000 genomes]
rs9385985	0.83[JPT][hapmap]
rs9389968	0.90[EUR][1000 genomes]
rs9484600	0.83[JPT][hapmap]
rs9496207	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv1029504	chr6:142131846-142333198	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538458	chr6:142131846-142333198	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1017195	chr6:142142454-142336722	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv604792	chr6:142192725-142399251	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1019170	chr6:142234933-142397088	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv464068	chr6:142263201-142316177	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv886731	chr6:142287143-142364628	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv886732	chr6:142290338-142536049	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv522300	chr6:142301227-142316672	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142304800-142316000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:142310000-142312200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:142310000-142312200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:142310200-142311800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:142310200-142312200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:142310200-142312200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:142310200-142312200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:142310600-142312000	Enhancers	Osteobl	bone
9	chr6:142310800-142334400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:142311000-142312200	Enhancers	NHDF-Ad	bronchial
11	chr6:142311000-142316200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:142311000-142329000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:142311400-142312000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:142311600-142312200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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