Variant report

Variant	rs1860686
Chromosome Location	chr7:103292444-103292445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103282215..103284239-chr7:103291796..103293845,2	K562	blood:
2	chr7:103290439..103294290-chr7:103295616..103299130,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10487164	0.91[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12705141	0.82[CEU][hapmap]
rs12705148	0.80[LWK][hapmap]
rs13238300	0.89[AFR][1000 genomes]
rs2240965	1.00[LWK][hapmap];0.83[MKK][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes]
rs2299338	1.00[JPT][hapmap]
rs2299348	0.90[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362628	1.00[ASN][1000 genomes]
rs362631	0.86[ASW][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs362672	1.00[ASN][1000 genomes]
rs3808021	0.82[AFR][1000 genomes]
rs41276151	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476848	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs493189	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs517912	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs540058	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs56041591	0.92[ASN][1000 genomes]
rs563264	0.84[ASW][hapmap];0.85[CHD][hapmap]
rs56384750	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568519	0.87[EUR][1000 genomes]
rs631989	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs67423770	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67811550	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67823578	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720078	1.00[ASW][hapmap];0.91[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177965	1.00[ASN][1000 genomes]
rs73177970	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs82878	0.85[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs997447	0.91[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.94[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	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1835816	chr7:103255144-103354223	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	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	chr7:103278800-103300800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:103288800-103301000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:103289000-103300800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:103289200-103294800	Strong transcription	HepG2	liver
5	chr7:103290000-103300600	Weak transcription	Liver	Liver
6	chr7:103291000-103296000	Weak transcription	K562	blood
7	chr7:103292000-103292800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:103292000-103293200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:103292000-103293400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:103292000-103293800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:103292000-103293800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:103292200-103293000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:103292400-103293000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:103292400-103293400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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