Variant report

Variant	rs57505949
Chromosome Location	chr18:44289655-44289656
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:10)

rs_ID	r²[population]
rs11082552	0.91[ASN][1000 genomes]
rs2447526	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56772863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646607	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs647582	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs648584	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs649806	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs659682	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73433069	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946000	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv909589	chr18:44279892-44330604	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv909590	chr18:44279892-44332911	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv909591	chr18:44279892-44370518	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv909592	chr18:44279892-44385150	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909593	chr18:44279892-44396246	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv909594	chr18:44279892-44400621	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44253000-44291400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr18:44285200-44291600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr18:44285800-44290000	Weak transcription	Psoas Muscle	Psoas
4	chr18:44286800-44290600	Weak transcription	Left Ventricle	heart
5	chr18:44286800-44291600	Weak transcription	Brain Hippocampus Middle	brain
6	chr18:44286800-44291600	Weak transcription	Brain Substantia Nigra	brain
7	chr18:44286800-44298800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr18:44287200-44289800	Weak transcription	Fetal Heart	heart
9	chr18:44287200-44290800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:44287200-44291000	Weak transcription	Brain Angular Gyrus	brain
11	chr18:44287400-44291600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr18:44287400-44291800	Weak transcription	NHLF	lung
13	chr18:44287600-44290600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr18:44287600-44291400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr18:44287600-44291400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr18:44287800-44298800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:44288000-44291200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr18:44288000-44291400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr18:44288400-44291000	Weak transcription	NHDF-Ad	bronchial
20	chr18:44288400-44292000	Weak transcription	Brain Germinal Matrix	brain
21	chr18:44288600-44291400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:44289000-44291000	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links