Variant report

Variant	rs73121758
Chromosome Location	chr3:84159333-84159334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11127832	0.83[AMR][1000 genomes]
rs13353445	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1609241	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1609242	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2037806	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2178131	0.91[ASN][1000 genomes]
rs2325772	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2325775	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2325824	0.91[ASN][1000 genomes]
rs28373681	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35678260	0.83[AMR][1000 genomes]
rs4856240	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4856482	0.91[ASN][1000 genomes]
rs4856483	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs55807627	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55857229	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56133340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73121754	0.86[AFR][1000 genomes]
rs73121759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73121799	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs73123446	0.83[AFR][1000 genomes]
rs7428025	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7630889	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9831113	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9837793	0.83[AMR][1000 genomes]
rs9849196	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9853140	0.91[ASN][1000 genomes]
rs9858116	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9861365	0.83[AFR][1000 genomes]
rs9985384	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006081	chr3:83421626-84262106	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1012918	chr3:83784488-84191829	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv536610	chr3:83784488-84191829	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv877075	chr3:83952144-84199075	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv877078	chr3:83991464-84199075	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1007008	chr3:84069044-84653896	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv536612	chr3:84069044-84653896	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv877081	chr3:84094818-84199075	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv460743	chr3:84094818-84644186	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv590814	chr3:84094818-84644186	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84157000-84159400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:84157000-84159400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:84157200-84159600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:84157200-84159800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:84157200-84159800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:84158000-84160400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:84158000-84160400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:84158000-84160400	Enhancers	NHEK	skin
9	chr3:84158400-84159600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:84158400-84160400	Enhancers	HMEC	breast
11	chr3:84158800-84159400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:84158800-84159400	Enhancers	A549	lung
13	chr3:84158800-84160200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:84158800-84160200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:84158800-84160200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:84158800-84160400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:84159000-84160000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:84159000-84164200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:84159200-84159400	Enhancers	Brain Anterior Caudate	brain
20	chr3:84159200-84159800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:84159200-84159800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:84159200-84165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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