Variant report

Variant	rs58388470
Chromosome Location	chr1:212386930-212386931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212385419..212387445-chr1:212414285..212417488,3	K562	blood:
2	chr1:212386087..212387745-chr1:212388194..212390712,2	K562	blood:
3	chr1:212386318..212388694-chr1:212411240..212413390,2	K562	blood:

Variant related genes	Relation type
ENSG00000226251	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11800208	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11801902	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11803526	1.00[EUR][1000 genomes]
rs17018697	1.00[EUR][1000 genomes]
rs17018717	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018784	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1873299	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1908141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4369290	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764484	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56410034	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57461449	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58031667	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59665922	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59988047	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61331273	1.00[EUR][1000 genomes]
rs6676652	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687793	1.00[EUR][1000 genomes]
rs6701982	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078491	1.00[EUR][1000 genomes]
rs73078499	1.00[EUR][1000 genomes]
rs73078504	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73078520	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078526	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078531	1.00[EUR][1000 genomes]
rs73078536	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73080522	0.81[AMR][1000 genomes]
rs74138110	1.00[AMR][1000 genomes]
rs7515005	1.00[EUR][1000 genomes]
rs7530958	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7533954	1.00[EUR][1000 genomes]
rs7534621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536393	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536704	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537172	1.00[EUR][1000 genomes]
rs7538315	1.00[EUR][1000 genomes]
rs884208	1.00[AMR][1000 genomes];1.00[EUR][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212368800-212391000	Weak transcription	Thymus	Thymus
2	chr1:212379600-212391600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:212381800-212391200	Weak transcription	Right Atrium	heart
4	chr1:212382800-212387200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:212382800-212387800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:212382800-212388800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:212382800-212391000	Weak transcription	Stomach Mucosa	stomach
8	chr1:212383000-212387200	Weak transcription	K562	blood
9	chr1:212383000-212393000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:212383400-212394600	Weak transcription	Left Ventricle	heart
11	chr1:212385600-212387200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:212385800-212387800	Enhancers	Adipose Nuclei	Adipose
13	chr1:212386000-212387200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:212386200-212388800	Enhancers	Fetal Intestine Small	intestine
15	chr1:212386400-212387600	Enhancers	Spleen	Spleen
16	chr1:212386400-212391200	Weak transcription	Fetal Kidney	kidney
17	chr1:212386600-212387200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:212386800-212387000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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