Variant report

Variant	rs2388750
Chromosome Location	chr6:99309607-99309608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12173555	0.83[AMR][1000 genomes]
rs1474606	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1884185	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2016597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2124137	0.85[EUR][1000 genomes]
rs2300062	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2300063	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2572095	0.85[AMR][1000 genomes]
rs2572099	0.89[AMR][1000 genomes]
rs2572109	0.89[AMR][1000 genomes]
rs2747731	0.89[AMR][1000 genomes]
rs2747733	0.89[AMR][1000 genomes]
rs28488166	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35727107	0.90[ASN][1000 genomes]
rs3756986	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55923681	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6924301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73503620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73505759	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7450561	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7742800	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9372960	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9372961	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9372982	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9372983	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9375721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375729	0.85[EUR][1000 genomes]
rs9385544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9388785	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388789	0.85[EUR][1000 genomes]
rs9388899	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9388909	0.89[AMR][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	nsv604253	chr6:98857397-99630038	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv334246	chr6:99309607-99309607	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:99294600-99347800	Weak transcription	Brain Substantia Nigra	brain
2	chr6:99297000-99386000	Weak transcription	Fetal Brain Male	brain
3	chr6:99298200-99333200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:99298600-99345400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:99300000-99313800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:99303800-99317000	Weak transcription	Primary T cells from cord blood	blood
7	chr6:99304000-99326600	Weak transcription	Left Ventricle	heart
8	chr6:99304000-99358600	Weak transcription	Aorta	Aorta
9	chr6:99304200-99312400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:99304600-99387200	Weak transcription	A549	lung
11	chr6:99305800-99319400	Weak transcription	Dnd41	blood
12	chr6:99309200-99323200	Weak transcription	HSMM	muscle
13	chr6:99309400-99312200	Weak transcription	Ovary	ovary
14	chr6:99309400-99326600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:99309600-99319000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:99309600-99319400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:99309600-99346800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:99309600-99351600	Weak transcription	NHDF-Ad	bronchial
19	chr6:99309600-99383400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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