Variant report

Variant	rs983657
Chromosome Location	chr5:37769421-37769422
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37766392..37770111-chr5:37772363..37774992,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10055929	0.83[AMR][1000 genomes]
rs10058348	1.00[AMR][1000 genomes]
rs10064268	1.00[AMR][1000 genomes]
rs10067274	1.00[AMR][1000 genomes]
rs10069946	1.00[AMR][1000 genomes]
rs10071998	0.83[AMR][1000 genomes]
rs10072096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10072199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10074395	1.00[AMR][1000 genomes]
rs10075048	1.00[AMR][1000 genomes]
rs11954051	0.83[AMR][1000 genomes]
rs11957206	0.83[AMR][1000 genomes]
rs11957694	1.00[AMR][1000 genomes]
rs13358095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13359573	0.83[AMR][1000 genomes]
rs13436949	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972940	1.00[AMR][1000 genomes]
rs2973065	1.00[AMR][1000 genomes]
rs2973071	1.00[AMR][1000 genomes]
rs2973072	1.00[AMR][1000 genomes]
rs2973073	0.83[AMR][1000 genomes]
rs34034635	0.83[AMR][1000 genomes]
rs7709443	0.83[AMR][1000 genomes]
rs7723792	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7730584	1.00[AMR][1000 genomes]
rs7737381	1.00[AMR][1000 genomes]
rs9292667	0.83[AMR][1000 genomes]
rs983658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37765200-37772200	Enhancers	Liver	Liver
2	chr5:37767600-37770000	Enhancers	Brain Hippocampus Middle	brain
3	chr5:37767600-37771600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr5:37767800-37770400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:37768200-37771400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:37768800-37770000	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:37769000-37769600	Enhancers	Brain Angular Gyrus	brain
8	chr5:37769000-37770000	Enhancers	Brain Anterior Caudate	brain
9	chr5:37769200-37769600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:37769200-37769600	Enhancers	Fetal Intestine Small	intestine
11	chr5:37769200-37770000	Enhancers	Brain Substantia Nigra	brain
12	chr5:37769200-37770600	Enhancers	Fetal Intestine Large	intestine
13	chr5:37769200-37770800	Enhancers	HSMMtube	muscle
14	chr5:37769200-37771200	Enhancers	HSMM	muscle
15	chr5:37769200-37771200	Enhancers	NHDF-Ad	bronchial
16	chr5:37769200-37773400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:37769200-37773800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:37769200-37773800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:37769400-37770600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:37769400-37770800	Enhancers	Osteobl	bone
21	chr5:37769400-37771000	Enhancers	HepG2	liver
22	chr5:37769400-37772800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:37769400-37773200	Enhancers	HMEC	breast
24	chr5:37769400-37773400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:37769400-37774000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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