Variant report

Variant	rs73942281
Chromosome Location	chr2:58259719-58259720
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58257859..58260468-chr2:58264282..58266737,2	MCF-7	breast:
2	chr2:58259305..58261530-chr2:58312995..58315728,2	MCF-7	breast:
3	chr2:58258986..58262667-chr2:58264897..58267784,3	K562	blood:
4	chr2:58258901..58260862-chr2:58271685..58273683,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17049347	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049370	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049374	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049404	1.00[AMR][1000 genomes]
rs55925609	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56878245	1.00[AMR][1000 genomes]
rs58495080	1.00[AMR][1000 genomes]
rs58984910	0.89[AFR][1000 genomes]
rs59264390	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59299963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59871174	1.00[AMR][1000 genomes]
rs60912631	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61126591	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61415878	1.00[AMR][1000 genomes]
rs6741122	1.00[AMR][1000 genomes]
rs73942251	1.00[AMR][1000 genomes]
rs73942258	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944812	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944819	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944823	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944825	0.84[AFR][1000 genomes]
rs73944826	1.00[AMR][1000 genomes]
rs73944827	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944828	1.00[AMR][1000 genomes]
rs73944835	1.00[AMR][1000 genomes]
rs73944837	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944838	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944839	1.00[AMR][1000 genomes]
rs73944840	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7587116	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7587229	0.98[AFR][1000 genomes];1.00[AMR][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	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv874200	chr2:58163178-58262016	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58249600-58259800	Weak transcription	Ovary	ovary
2	chr2:58251400-58272000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:58255600-58267600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:58256600-58271800	Weak transcription	Left Ventricle	heart
5	chr2:58256800-58272800	Weak transcription	Adipose Nuclei	Adipose
6	chr2:58256800-58273000	Weak transcription	Pancreas	Pancrea
7	chr2:58257800-58260000	Enhancers	NH-A	brain
8	chr2:58258200-58259800	Weak transcription	Psoas Muscle	Psoas
9	chr2:58258200-58271800	Weak transcription	Brain Substantia Nigra	brain
10	chr2:58258400-58260800	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:58258400-58273000	Weak transcription	Liver	Liver
12	chr2:58258600-58272000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:58258800-58260200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:58258800-58260200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:58258800-58260400	Enhancers	Primary B cells from cord blood	blood
16	chr2:58258800-58273000	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:58259000-58259800	Enhancers	Osteobl	bone
18	chr2:58259400-58259800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:58259400-58269400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:58259600-58259800	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:58259600-58260000	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:58259600-58260000	Enhancers	Spleen	Spleen
23	chr2:58259600-58260200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:58259600-58260600	Flanking Active TSS	GM12878-XiMat	blood

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