Variant report

Variant	rs504927
Chromosome Location	chr7:16629232-16629233
allele	G/T
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:16)

rs_ID	r²[population]
rs4719472	0.80[AMR][1000 genomes]
rs4721517	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs476489	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs481026	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs481543	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs503157	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs506640	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs506875	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs511938	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs514114	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs516038	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs517203	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs541797	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs561370	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs568211	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6942828	1.00[CHB][hapmap];0.89[ASN][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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16622200-16635000	Weak transcription	K562	blood
2	chr7:16624000-16645600	Weak transcription	Gastric	stomach
3	chr7:16626000-16638000	Weak transcription	Fetal Stomach	stomach
4	chr7:16626400-16639400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:16626600-16637800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:16626800-16630600	Enhancers	Fetal Heart	heart
7	chr7:16627000-16637800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:16627400-16633800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:16627600-16635200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:16627800-16633800	Weak transcription	Osteobl	bone
11	chr7:16627800-16637800	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:16627800-16639400	Weak transcription	Brain Germinal Matrix	brain
13	chr7:16627800-16640200	Weak transcription	Fetal Brain Female	brain
14	chr7:16627800-16640200	Weak transcription	Right Ventricle	heart
15	chr7:16627800-16654200	Weak transcription	Brain Angular Gyrus	brain
16	chr7:16628000-16637800	Weak transcription	Adipose Nuclei	Adipose
17	chr7:16628200-16639000	Weak transcription	Left Ventricle	heart
18	chr7:16628400-16632000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:16628400-16639000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:16629000-16629600	Enhancers	Fetal Brain Male	brain
21	chr7:16629200-16629400	Enhancers	Pancreas	Pancrea
22	chr7:16629200-16629400	Enhancers	Right Atrium	heart
23	chr7:16629200-16631200	Enhancers	Fetal Intestine Large	intestine

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