Variant report

Variant	rs4392185
Chromosome Location	chr2:210541923-210541924
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10048829	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10189166	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10189639	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10196953	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10197252	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11897507	0.81[EUR][1000 genomes]
rs11899684	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12328955	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13383482	0.81[EUR][1000 genomes]
rs13384979	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13392785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13394033	0.81[EUR][1000 genomes]
rs13399574	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13428159	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16843177	0.84[AFR][1000 genomes]
rs16843513	1.00[EUR][1000 genomes]
rs16843555	1.00[EUR][1000 genomes]
rs17745550	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55677311	1.00[EUR][1000 genomes]
rs55888621	1.00[EUR][1000 genomes]
rs6435535	1.00[EUR][1000 genomes]
rs6716675	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6751280	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072898	1.00[EUR][1000 genomes]
rs73074703	1.00[EUR][1000 genomes]
rs73074704	1.00[EUR][1000 genomes]
rs73074714	1.00[EUR][1000 genomes]
rs73074716	1.00[EUR][1000 genomes]
rs73074718	1.00[EUR][1000 genomes]
rs73074722	1.00[EUR][1000 genomes]
rs73074726	1.00[EUR][1000 genomes]
rs73074728	1.00[EUR][1000 genomes]
rs7577387	1.00[EUR][1000 genomes]
rs877782	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754281	chr2:210484777-210543711	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv875765	chr2:210537660-210618203	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:210518200-210543200	Weak transcription	Aorta	Aorta
2	chr2:210528600-210550200	Weak transcription	Brain Substantia Nigra	brain
3	chr2:210528800-210550200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:210531400-210587800	Weak transcription	Brain Angular Gyrus	brain
5	chr2:210536400-210544800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:210536600-210545400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:210536600-210552200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:210537000-210543200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:210537000-210545800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:210537000-210550400	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:210537000-210596800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:210537200-210543800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:210537600-210547000	Weak transcription	Brain Germinal Matrix	brain
14	chr2:210537600-210550200	Weak transcription	Fetal Brain Male	brain
15	chr2:210537800-210545000	Weak transcription	Fetal Brain Female	brain
16	chr2:210539400-210543000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:210540200-210552200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:210540400-210543200	Weak transcription	Ovary	ovary
19	chr2:210541600-210543400	Weak transcription	Left Ventricle	heart
20	chr2:210541600-210550600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:210541800-210542400	Enhancers	Brain Anterior Caudate	brain
22	chr2:210541800-210551600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:210541800-210596400	Weak transcription	Gastric	stomach

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