Variant report

Variant	rs17123167
Chromosome Location	chr1:62631592-62631593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17123076	0.83[EUR][1000 genomes]
rs17123079	0.83[EUR][1000 genomes]
rs17123147	0.83[EUR][1000 genomes]
rs17123158	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17123164	1.00[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62593600-62636200	Weak transcription	Spleen	Spleen
2	chr1:62605000-62631800	Weak transcription	Lung	lung
3	chr1:62608400-62643600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:62612400-62632600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:62613400-62636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:62616200-62631800	Weak transcription	Right Ventricle	heart
7	chr1:62617200-62632000	Weak transcription	HMEC	breast
8	chr1:62617800-62631600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:62618600-62631800	Weak transcription	Pancreas	Pancrea
10	chr1:62618600-62637800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:62621000-62632600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:62621200-62636600	Weak transcription	Fetal Intestine Large	intestine
13	chr1:62622600-62638000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:62627000-62642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:62628200-62632000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:62628200-62632200	Weak transcription	Aorta	Aorta
17	chr1:62628200-62632200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:62628200-62632400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:62628200-62633000	Weak transcription	Left Ventricle	heart
20	chr1:62628200-62633400	Weak transcription	Liver	Liver
21	chr1:62628400-62634000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:62630400-62632400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:62630400-62632400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:62631000-62633000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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