Variant report

Variant	rs16960377
Chromosome Location	chr18:44253407-44253408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10502875	0.82[CEU][hapmap];0.87[CHD][hapmap];0.87[EUR][1000 genomes]
rs11082549	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];0.90[ASN][1000 genomes]
rs11082550	0.89[ASN][1000 genomes]
rs12454493	1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap];0.90[LWK][hapmap];0.86[MKK][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12457282	1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[ASN][1000 genomes]
rs12458591	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16939921	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34009866	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744861	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs532849	0.95[CHB][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs57043929	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57266350	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57714274	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619376	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.80[MKK][hapmap];0.90[ASN][1000 genomes]
rs632814	0.85[ASN][1000 genomes]
rs634070	0.83[ASN][1000 genomes]
rs662191	0.86[ASN][1000 genomes]
rs73433027	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS 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	5 gene(s)	inside rSNPs	diseases
2	esv15009	chr18:44222960-44263857	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv515609	chr18:44223365-44263237	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1056493	chr18:44224972-44259409	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1064019	chr18:44224972-44263237	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1065369	chr18:44224972-44263913	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1058904	chr18:44224972-44264578	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1060496	chr18:44229485-44263237	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS 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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44248200-44256400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr18:44248200-44256400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr18:44248400-44253800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr18:44248600-44258800	Weak transcription	Brain Germinal Matrix	brain
5	chr18:44249200-44253800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:44249400-44253800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr18:44251400-44254200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr18:44252000-44253600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr18:44252600-44253600	Enhancers	Fetal Stomach	stomach
10	chr18:44252800-44256200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr18:44252800-44256200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr18:44252800-44256400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr18:44253000-44254200	Weak transcription	Fetal Brain Male	brain
14	chr18:44253000-44256400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr18:44253000-44291400	Weak transcription	Brain Cingulate Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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