Variant report

Variant	rs10230060
Chromosome Location	chr7:19600550-19600551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10234936	0.89[AFR][1000 genomes]
rs10254021	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10441041	0.80[AFR][1000 genomes]
rs11970989	0.81[AFR][1000 genomes]
rs11983432	0.82[AMR][1000 genomes]
rs12112355	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16872310	0.87[AMR][1000 genomes]
rs16872317	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17141582	0.93[AFR][1000 genomes]
rs17141585	0.93[AFR][1000 genomes]
rs2024354	0.83[ASN][1000 genomes]
rs2215859	0.87[AFR][1000 genomes]
rs55910326	0.83[ASN][1000 genomes]
rs66584548	0.90[AFR][1000 genomes]
rs66811386	0.87[AMR][1000 genomes]
rs67204384	0.92[AFR][1000 genomes]
rs67252107	0.91[AFR][1000 genomes]
rs67350748	0.85[ASN][1000 genomes]
rs68126843	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6966080	0.82[AMR][1000 genomes]
rs6966676	0.87[AMR][1000 genomes]
rs73072946	0.81[ASN][1000 genomes]
rs7458820	0.80[ASN][1000 genomes]
rs7780413	0.87[AFR][1000 genomes]
rs7803426	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887819	chr7:19262091-19658389	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	esv2752996	chr7:19392086-19684019	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2759517	chr7:19396146-19620962	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv2758107	chr7:19436043-19620962	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv2752153	chr7:19509002-19620651	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv887824	chr7:19524863-19687779	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv887825	chr7:19536977-19615992	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1026185	chr7:19564488-19612246	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1016344	chr7:19574677-19654624	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1032609	chr7:19575555-19654624	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1021494	chr7:19589814-19610128	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19597200-19601400	Enhancers	HMEC	breast
2	chr7:19597400-19601400	Enhancers	HSMMtube	muscle
3	chr7:19597600-19601000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:19597800-19602000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:19598200-19601600	Enhancers	HSMM	muscle
6	chr7:19599400-19601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:19599600-19600800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:19599600-19601200	Enhancers	Osteobl	bone
9	chr7:19599800-19600600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:19600000-19600800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:19600000-19601600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:19600200-19600600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:19600200-19601000	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr7:19600400-19600600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:19600400-19600600	Enhancers	NHEK	skin

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