Variant report

Variant	rs72729561
Chromosome Location	chr1:95066080-95066081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1104365	1.00[ASN][1000 genomes]
rs1146490	1.00[ASN][1000 genomes]
rs1146493	1.00[ASN][1000 genomes]
rs1146502	1.00[ASN][1000 genomes]
rs11587053	1.00[ASN][1000 genomes]
rs1245216	1.00[ASN][1000 genomes]
rs2022033	1.00[ASN][1000 genomes]
rs2066285	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847205	1.00[ASN][1000 genomes]
rs6683135	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698941	1.00[ASN][1000 genomes]
rs72729550	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729555	1.00[ASN][1000 genomes]
rs7519356	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs841680	1.00[ASN][1000 genomes]
rs841702	1.00[ASN][1000 genomes]
rs841703	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	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1804937	chr1:95051930-95081587	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95056200-95067800	Weak transcription	Gastric	stomach
2	chr1:95056800-95069000	Weak transcription	Right Atrium	heart
3	chr1:95057400-95069000	Weak transcription	Aorta	Aorta
4	chr1:95059400-95074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:95061400-95076800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:95061600-95067600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:95061600-95068800	Weak transcription	NHLF	lung
8	chr1:95061600-95071600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:95062000-95066600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:95062000-95072200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:95062400-95070800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:95062600-95067600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr1:95063200-95067800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:95063400-95066200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:95063400-95066200	Weak transcription	Left Ventricle	heart
16	chr1:95063600-95067200	Weak transcription	Placenta	Placenta
17	chr1:95064000-95069600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:95064400-95069200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:95065000-95067200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:95065000-95069000	Enhancers	HMEC	breast
21	chr1:95065200-95066200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr1:95065200-95066400	Enhancers	HepG2	liver
23	chr1:95065200-95067400	Weak transcription	Brain Anterior Caudate	brain
24	chr1:95065200-95081000	Enhancers	Stomach Mucosa	stomach
25	chr1:95065400-95081400	Enhancers	Fetal Intestine Small	intestine
26	chr1:95065600-95067800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:95065600-95087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:95065800-95066200	Weak transcription	Adipose Nuclei	Adipose
29	chr1:95065800-95067600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:95066000-95066400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:95066000-95070000	Enhancers	Fetal Intestine Large	intestine

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