Variant report

Variant	rs12076074
Chromosome Location	chr1:94274146-94274147
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	chr1:94273349..94275410-chr1:94286366..94287981,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10874804	1.00[ASN][1000 genomes]
rs10874805	1.00[ASN][1000 genomes]
rs11165011	0.92[EUR][1000 genomes]
rs11165027	1.00[ASN][1000 genomes]
rs11165028	1.00[ASN][1000 genomes]
rs11165029	1.00[ASN][1000 genomes]
rs11165032	1.00[ASN][1000 genomes]
rs11805379	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808380	1.00[ASN][1000 genomes]
rs12059028	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062272	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062925	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069476	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078134	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12080386	1.00[ASN][1000 genomes]
rs12081399	1.00[ASN][1000 genomes]
rs12090038	1.00[ASN][1000 genomes]
rs12090230	1.00[ASN][1000 genomes]
rs12094966	1.00[ASN][1000 genomes]
rs17110374	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110608	1.00[ASN][1000 genomes]
rs2234729	1.00[ASN][1000 genomes]
rs4075342	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292667	1.00[ASN][1000 genomes]
rs41292669	1.00[ASN][1000 genomes]
rs41292671	1.00[ASN][1000 genomes]
rs41292673	1.00[ASN][1000 genomes]
rs4542218	0.86[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57136451	1.00[ASN][1000 genomes]
rs58790885	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59444123	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59545065	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60057678	0.91[EUR][1000 genomes]
rs61750895	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541397	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680755	1.00[CEU][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686765	1.00[ASN][1000 genomes]
rs6692306	1.00[ASN][1000 genomes]
rs6701957	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702045	1.00[ASN][1000 genomes]
rs6702064	1.00[ASN][1000 genomes]
rs6704348	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965451	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967332	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967387	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969374	1.00[ASN][1000 genomes]
rs7514067	1.00[ASN][1000 genomes]
rs7515991	1.00[ASN][1000 genomes]
rs7525516	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552401	1.00[ASN][1000 genomes]
rs7555872	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546822	chr1:94246577-94289863	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1815663	chr1:94246577-94291252	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1877	chr1:94247756-94292908	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv508415	chr1:94256122-94305339	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1802380	chr1:94272119-94291252	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94271000-94279200	Weak transcription	Adipose Nuclei	Adipose
2	chr1:94271200-94275400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:94271200-94275800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:94271200-94276000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:94271200-94276000	Weak transcription	Placenta	Placenta
6	chr1:94271200-94276000	Weak transcription	Right Atrium	heart
7	chr1:94271200-94276000	Weak transcription	Right Ventricle	heart
8	chr1:94271200-94276600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:94271200-94276600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:94271200-94278200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:94272000-94276000	Weak transcription	HSMM	muscle
12	chr1:94272000-94276000	Weak transcription	NHLF	lung
13	chr1:94272400-94274800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:94273000-94274600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:94273200-94274400	ZNF genes & repeats	HMEC	breast
16	chr1:94273400-94275800	Weak transcription	Hela-S3	cervix
17	chr1:94273600-94276000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:94273600-94278600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:94273600-94282800	Weak transcription	Lung	lung
20	chr1:94273800-94274200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr1:94274000-94274600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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