Variant report

Variant	rs1805085
Chromosome Location	chr2:190927160-190927161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10201285	0.83[AMR][1000 genomes]
rs10205577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206643	0.83[AMR][1000 genomes]
rs13387425	0.84[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13428131	0.87[ASW][hapmap];1.00[MEX][hapmap]
rs16823986	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832260	0.83[AMR][1000 genomes]
rs59802059	0.83[AMR][1000 genomes]
rs9288169	1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190924000-190927600	Active TSS	Fetal Muscle Trunk	muscle
2	chr2:190924400-190927200	Active TSS	Muscle Satellite Cultured Cells	--
3	chr2:190924400-190927800	Active TSS	HSMMtube	muscle
4	chr2:190924600-190927600	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr2:190924800-190927600	Active TSS	Fetal Muscle Leg	muscle
6	chr2:190925000-190927600	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr2:190925000-190927600	Active TSS	HSMM	muscle
8	chr2:190925800-190927600	Active TSS	Psoas Muscle	Psoas
9	chr2:190926200-190928400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:190926800-190927200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:190926800-190927200	Active TSS	Brain Angular Gyrus	brain
12	chr2:190926800-190927200	Active TSS	Brain Cingulate Gyrus	brain
13	chr2:190926800-190927200	Active TSS	Fetal Lung	lung
14	chr2:190926800-190927200	Active TSS	NH-A	brain
15	chr2:190926800-190927200	Active TSS	NHLF	lung
16	chr2:190926800-190927400	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr2:190926800-190927400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr2:190926800-190927400	Active TSS	Fetal Stomach	stomach
19	chr2:190926800-190927400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr2:190926800-190927400	Active TSS	Stomach Smooth Muscle	stomach
21	chr2:190926800-190927600	Active TSS	Brain Hippocampus Middle	brain
22	chr2:190926800-190927600	Active TSS	Brain Substantia Nigra	brain
23	chr2:190926800-190927600	Active TSS	NHDF-Ad	bronchial
24	chr2:190927000-190927200	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr2:190927000-190927200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr2:190927000-190927400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr2:190927000-190927400	Active TSS	Fetal Kidney	kidney
28	chr2:190927000-190927600	Active TSS	Brain Anterior Caudate	brain
29	chr2:190927000-190928800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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