Variant report

Variant	rs9430049
Chromosome Location	chr1:210931210-210931211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12562303	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12562536	1.00[CEU][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12563193	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12565452	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12566234	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1538755	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17016821	0.91[JPT][hapmap]
rs1934614	0.83[JPT][hapmap]
rs1970589	1.00[JPT][hapmap]
rs2022442	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951563	0.91[JPT][hapmap]
rs4951566	0.91[JPT][hapmap]
rs4951576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4951591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs55723924	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56849437	0.92[ASN][1000 genomes]
rs57144255	0.95[ASN][1000 genomes]
rs59441822	0.95[ASN][1000 genomes]
rs59843981	0.96[ASN][1000 genomes]
rs6656459	0.81[YRI][hapmap]
rs6694502	0.83[JPT][hapmap]
rs6698206	0.88[AFR][1000 genomes]
rs74156047	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74156059	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74156061	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74156063	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74156064	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74156066	0.83[AFR][1000 genomes]
rs9430047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9430048	0.88[AFR][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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873153	chr1:210900481-210994339	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv999018	chr1:210907239-210999306	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210871200-210932000	Weak transcription	HSMM	muscle
2	chr1:210921600-210931400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:210928600-210931600	Weak transcription	Esophagus	oesophagus
4	chr1:210929200-210933000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:210929400-210931600	Weak transcription	HSMMtube	muscle
6	chr1:210930000-210931400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:210930000-210931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:210930000-210931400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:210930600-210931800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:210930800-210931400	Enhancers	Brain Hippocampus Middle	brain
11	chr1:210930800-210931600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:210930800-210931600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:210930800-210931800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:210930800-210931800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:210931000-210931400	Enhancers	Brain Germinal Matrix	brain
16	chr1:210931000-210931600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:210931000-210931800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:210931000-210931800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:210931200-210931600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:210931200-210931800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:210931200-210932000	Enhancers	Brain Angular Gyrus	brain

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