Variant report

Variant	rs73121227
Chromosome Location	chr2:235111604-235111605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56143539	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59548955	0.85[AMR][1000 genomes]
rs61490499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6742442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6755661	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73121231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73121234	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73121235	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73121237	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73121253	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73999245	0.83[AMR][1000 genomes]
rs73999271	0.86[AFR][1000 genomes];0.83[AMR][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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv584713	chr2:235092011-235236611	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235109200-235114000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:235110400-235113800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:235110600-235114200	Enhancers	NHEK	skin
4	chr2:235111000-235113000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:235111200-235111800	Enhancers	NH-A	brain
6	chr2:235111200-235114400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:235111400-235112600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:235111400-235112600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:235111400-235113800	Enhancers	HMEC	breast
10	chr2:235111400-235114000	Enhancers	HUVEC	blood vessel
11	chr2:235111600-235111800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:235111600-235111800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:235111600-235111800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:235111600-235111800	Enhancers	NHDF-Ad	bronchial
15	chr2:235111600-235112000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:235111600-235112000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:235111600-235112000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:235111600-235112000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr2:235111600-235112000	Enhancers	Esophagus	oesophagus
20	chr2:235111600-235112000	Enhancers	Pancreas	Pancrea
21	chr2:235111600-235112000	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr2:235111600-235112000	Flanking Active TSS	HSMM	muscle
23	chr2:235111600-235112000	Flanking Active TSS	HSMMtube	muscle
24	chr2:235111600-235112000	Flanking Active TSS	Osteobl	bone
25	chr2:235111600-235112200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:235111600-235112200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:235111600-235112400	Enhancers	Colon Smooth Muscle	Colon
28	chr2:235111600-235112400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:235111600-235112400	Enhancers	Stomach Mucosa	stomach
30	chr2:235111600-235112800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:235111600-235112800	Enhancers	NHLF	lung
32	chr2:235111600-235113000	Flanking Active TSS	A549	lung
33	chr2:235111600-235113600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:235111600-235113800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:235111600-235114200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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