Variant report

Variant	rs1718921
Chromosome Location	chr1:77337976-77337977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1252583	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1252587	0.95[EUR][1000 genomes]
rs1269004	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1403243	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1522618	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1718919	1.00[CEU][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1949697	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2350527	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4271261	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4949643	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74089800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74089801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9660631	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9661207	1.00[EUR][1000 genomes]
rs9726090	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1005649	chr1:77141039-77398747	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1003386	chr1:77305197-77375536	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77335000-77360000	Weak transcription	Ovary	ovary
2	chr1:77335000-77371000	Weak transcription	Aorta	Aorta
3	chr1:77335200-77338400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:77335200-77341200	Weak transcription	Fetal Stomach	stomach
5	chr1:77335800-77341000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:77335800-77341600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:77336200-77339200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:77336600-77338200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:77337000-77339000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:77337200-77339000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:77337200-77339200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:77337400-77338400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:77337400-77344200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:77337600-77338000	Enhancers	Fetal Brain Male	brain
15	chr1:77337600-77338200	Enhancers	GM12878-XiMat	blood
16	chr1:77337600-77339000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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