Variant report

Variant	rs57189309
Chromosome Location	chr2:33527146-33527147
allele	A/G
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:8)

rs_ID	r²[population]
rs11674005	0.87[EUR][1000 genomes]
rs11685019	0.87[EUR][1000 genomes]
rs17012763	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17038524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55873210	0.87[EUR][1000 genomes]
rs56203414	0.82[EUR][1000 genomes]
rs6708335	0.88[EUR][1000 genomes]
rs73925010	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv1011020	chr2:33508811-33527784	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2754325	chr2:33524956-33527587	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:33501200-33528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:33502600-33537000	Weak transcription	Fetal Intestine Large	intestine
4	chr2:33507000-33528600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:33517000-33528800	Weak transcription	Psoas Muscle	Psoas
6	chr2:33517000-33529200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:33517000-33529400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:33517000-33529600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:33517200-33533000	Weak transcription	Brain Substantia Nigra	brain
10	chr2:33517200-33533200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:33517200-33537400	Weak transcription	Fetal Brain Male	brain
12	chr2:33517200-33545000	Weak transcription	Fetal Kidney	kidney
13	chr2:33517200-33545800	Weak transcription	Fetal Lung	lung
14	chr2:33517200-33546400	Weak transcription	Brain Angular Gyrus	brain
15	chr2:33517600-33532600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:33517600-33532800	Weak transcription	Brain Anterior Caudate	brain
17	chr2:33517800-33543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:33522400-33527200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:33523200-33529400	Weak transcription	HUVEC	blood vessel
20	chr2:33523400-33527200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:33523400-33528800	Weak transcription	Ovary	ovary
22	chr2:33523400-33532600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:33523400-33545200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:33523600-33528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:33523600-33529400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:33523600-33529400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:33523600-33546200	Weak transcription	K562	blood
28	chr2:33523800-33529000	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:33523800-33536400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:33523800-33550600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:33524200-33529400	Weak transcription	HSMMtube	muscle
32	chr2:33524200-33546600	Weak transcription	Small Intestine	intestine
33	chr2:33524400-33527400	Strong transcription	NHDF-Ad	bronchial
34	chr2:33524600-33530000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:33524600-33531600	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr2:33524600-33535800	Strong transcription	Osteobl	bone
37	chr2:33524600-33537600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:33524800-33533400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:33525000-33537600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:33525200-33530000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:33525400-33527400	Strong transcription	Right Ventricle	heart
42	chr2:33525400-33527600	Strong transcription	Left Ventricle	heart
43	chr2:33525400-33528400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:33525400-33531000	Strong transcription	NHLF	lung
45	chr2:33525800-33527600	Strong transcription	Liver	Liver
46	chr2:33525800-33531000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:33526200-33527800	Strong transcription	Placenta	Placenta
48	chr2:33526400-33527800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr2:33526600-33527800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:33526600-33528800	Strong transcription	Fetal Stomach	stomach

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