Variant report

Variant	rs57897982
Chromosome Location	chr2:72697677-72697678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55978045	1.00[AMR][1000 genomes]
rs57194904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58912718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60460654	1.00[AMR][1000 genomes]
rs62148066	1.00[AMR][1000 genomes]
rs73942569	1.00[AMR][1000 genomes]
rs73942574	1.00[AMR][1000 genomes]
rs73943193	0.90[AFR][1000 genomes]
rs73943194	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73943198	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73943321	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72672000-72702200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:72680800-72702000	Weak transcription	Fetal Stomach	stomach
3	chr2:72685600-72702000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:72689800-72702200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:72690000-72702200	Weak transcription	Pancreas	Pancrea
6	chr2:72690400-72702200	Weak transcription	Fetal Kidney	kidney
7	chr2:72691200-72702000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:72691200-72702000	Weak transcription	Right Ventricle	heart
9	chr2:72691400-72702400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:72691400-72712600	Weak transcription	Osteobl	bone
11	chr2:72691400-72724200	Weak transcription	Psoas Muscle	Psoas
12	chr2:72691400-72726400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:72691600-72698800	Weak transcription	Fetal Heart	heart
14	chr2:72691600-72699000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:72691600-72702000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:72691600-72702200	Weak transcription	Aorta	Aorta
17	chr2:72691600-72702200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:72691600-72702200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:72691600-72702200	Weak transcription	Lung	lung
20	chr2:72691600-72702400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:72691600-72702400	Weak transcription	NHEK	skin
22	chr2:72691600-72707600	Weak transcription	Brain Angular Gyrus	brain
23	chr2:72691600-72724200	Weak transcription	HUVEC	blood vessel
24	chr2:72691600-72741800	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:72691800-72702000	Weak transcription	Brain Anterior Caudate	brain
26	chr2:72691800-72702000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:72691800-72702200	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:72691800-72702200	Weak transcription	Brain Substantia Nigra	brain
29	chr2:72691800-72702200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:72691800-72702200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:72692400-72702000	Weak transcription	Ovary	ovary
32	chr2:72692400-72702000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:72692400-72702200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:72692400-72742000	Weak transcription	Small Intestine	intestine
35	chr2:72692600-72699200	Weak transcription	Liver	Liver
36	chr2:72692600-72701800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:72692600-72702000	Weak transcription	Placenta	Placenta
38	chr2:72692600-72702200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:72692600-72702200	Weak transcription	Left Ventricle	heart
40	chr2:72692600-72702200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:72692600-72727600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:72692800-72702200	Weak transcription	Adipose Nuclei	Adipose
43	chr2:72693000-72698600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:72693000-72703400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:72693200-72698600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:72693600-72702200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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