Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173209408..173211805-chr2:173214277..173217021,2	K562	blood:

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10930550	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4484005	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4487062	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4552157	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4972502	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972802	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6433351	0.82[CHB][hapmap]
rs6716471	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6717736	0.80[ASN][1000 genomes]
rs6719962	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729717	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6729987	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757748	0.80[ASN][1000 genomes]
rs7425380	0.80[ASN][1000 genomes]
rs7583083	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594561	0.82[CHB][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173204600-173218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:173207200-173219200	Weak transcription	Right Atrium	heart
3	chr2:173210400-173219000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:173214400-173216400	Weak transcription	HSMMtube	muscle
5	chr2:173214800-173217200	Enhancers	Fetal Muscle Leg	muscle
6	chr2:173214800-173218600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:173215200-173216400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:173215400-173216800	Enhancers	Fetal Muscle Trunk	muscle
9	chr2:173215400-173216800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:173215400-173217000	Enhancers	Liver	Liver
11	chr2:173215400-173217200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:173215600-173216200	Weak transcription	Left Ventricle	heart
13	chr2:173215600-173217200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:173215600-173217200	Enhancers	Psoas Muscle	Psoas
15	chr2:173215600-173219800	Enhancers	Pancreas	Pancrea
16	chr2:173215800-173216200	Enhancers	Spleen	Spleen
17	chr2:173215800-173216600	Enhancers	Brain Anterior Caudate	brain
18	chr2:173215800-173217400	Enhancers	Aorta	Aorta
19	chr2:173215800-173217600	Enhancers	Stomach Mucosa	stomach
20	chr2:173216000-173221000	Weak transcription	Fetal Thymus	thymus

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