Variant report

Variant	rs7530787
Chromosome Location	chr1:62632248-62632249
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2251367	0.86[EUR][1000 genomes]
rs2264960	0.87[EUR][1000 genomes]
rs2457821	0.80[EUR][1000 genomes]
rs2457832	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2476195	0.81[EUR][1000 genomes]
rs2476196	0.85[EUR][1000 genomes]
rs2476197	0.85[EUR][1000 genomes]
rs2481667	0.82[EUR][1000 genomes]
rs2481668	0.81[EUR][1000 genomes]
rs2481669	0.85[EUR][1000 genomes]
rs2481672	0.86[EUR][1000 genomes]
rs2481674	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2481675	0.80[EUR][1000 genomes]
rs2481680	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2481706	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2666468	0.86[EUR][1000 genomes]
rs2666491	0.87[EUR][1000 genomes]
rs2666493	0.87[EUR][1000 genomes]
rs2774932	0.87[EUR][1000 genomes]
rs2984823	0.86[EUR][1000 genomes]
rs2989012	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6587956	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7535875	0.83[EUR][1000 genomes]
rs7538266	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv461650	chr1:62542717-62657530	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv546417	chr1:62542717-62657530	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1012683	chr1:62587852-62643998	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62593600-62636200	Weak transcription	Spleen	Spleen
2	chr1:62608400-62643600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:62612400-62632600	Weak transcription	Brain Angular Gyrus	brain
4	chr1:62613400-62636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:62618600-62637800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:62621000-62632600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:62621200-62636600	Weak transcription	Fetal Intestine Large	intestine
8	chr1:62622600-62638000	Weak transcription	Fetal Intestine Small	intestine
9	chr1:62627000-62642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:62628200-62632400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:62628200-62633000	Weak transcription	Left Ventricle	heart
12	chr1:62628200-62633400	Weak transcription	Liver	Liver
13	chr1:62628400-62634000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:62630400-62632400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:62630400-62632400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:62631000-62633000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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