Variant report

Variant	rs6753469
Chromosome Location	chr2:134525022-134525023
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs13424416	1.00[EUR][1000 genomes]
rs16828766	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16829423	1.00[EUR][1000 genomes]
rs16829506	1.00[EUR][1000 genomes]
rs16829743	1.00[EUR][1000 genomes]
rs16829792	1.00[EUR][1000 genomes]
rs16829808	1.00[EUR][1000 genomes]
rs34979285	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56170261	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57028673	1.00[EUR][1000 genomes]
rs57898906	1.00[EUR][1000 genomes]
rs58799403	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59471650	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59601058	1.00[EUR][1000 genomes]
rs59785320	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60573351	1.00[EUR][1000 genomes]
rs61290996	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61465743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6430445	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6726548	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745294	1.00[EUR][1000 genomes]
rs6757963	1.00[EUR][1000 genomes]
rs72999768	1.00[EUR][1000 genomes]
rs72999775	1.00[EUR][1000 genomes]
rs72999782	1.00[EUR][1000 genomes]
rs73003855	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003879	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003897	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003900	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005709	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005714	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005722	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73007661	1.00[EUR][1000 genomes]
rs73957243	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73960110	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584447	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7592843	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	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	chr2:134522800-134525200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:134523000-134526400	Enhancers	Liver	Liver
3	chr2:134523000-134526400	Enhancers	Fetal Heart	heart
4	chr2:134523600-134532400	Weak transcription	Right Ventricle	heart
5	chr2:134524000-134529400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:134524000-134530800	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:134524000-134531200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:134524200-134525800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:134524200-134526000	Weak transcription	Fetal Lung	lung
10	chr2:134524200-134526000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:134524200-134531600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:134524400-134525200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:134524400-134526000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:134524400-134526200	Weak transcription	Brain Anterior Caudate	brain
15	chr2:134524400-134531000	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:134524600-134526200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:134524600-134526200	Weak transcription	Right Atrium	heart
18	chr2:134524600-134531200	Weak transcription	Brain Substantia Nigra	brain
19	chr2:134524600-134531600	Weak transcription	Fetal Stomach	stomach
20	chr2:134524600-134537200	Weak transcription	NHLF	lung
21	chr2:134524800-134525800	Weak transcription	Osteobl	bone
22	chr2:134524800-134526000	Weak transcription	Brain Angular Gyrus	brain
23	chr2:134524800-134531400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:134524800-134531600	Weak transcription	Left Ventricle	heart
25	chr2:134524800-134531800	Weak transcription	Ovary	ovary

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