Variant report

Variant	rs872691
Chromosome Location	chr1:58556145-58556146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10889083	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1106366	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1106367	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11207168	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11207169	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11207170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12058945	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088082	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1213764	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1213770	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1213771	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1359494	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17116867	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17116869	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1776184	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4320799	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58029039	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58745009	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59081310	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72906581	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74076064	0.83[EUR][1000 genomes]
rs7522031	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs821525	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs821527	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs821529	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs821530	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs873989	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9782935	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58554200-58557400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr1:58554800-58556600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:58554800-58557400	Enhancers	Fetal Brain Male	brain
4	chr1:58555000-58556200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:58555000-58556600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:58555200-58556200	Enhancers	Fetal Thymus	thymus
7	chr1:58555200-58556800	Enhancers	Fetal Lung	lung
8	chr1:58555400-58556200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:58555400-58556200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:58555400-58556400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:58555400-58556400	Enhancers	Thymus	Thymus
12	chr1:58555400-58556400	Enhancers	HepG2	liver
13	chr1:58555400-58557400	Enhancers	Brain Germinal Matrix	brain
14	chr1:58555600-58557200	Enhancers	Fetal Brain Female	brain
15	chr1:58555600-58557400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:58555800-58556200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:58555800-58556600	Enhancers	Primary T cells from cord blood	blood
18	chr1:58555800-58557400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:58555800-58557400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:58555800-58563400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:58556000-58556400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:58556000-58557000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:58556000-58557400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:58556000-58557400	Enhancers	Fetal Kidney	kidney

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