Variant report

Variant	rs13028213
Chromosome Location	chr2:173250267-173250268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10207752	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10930552	0.89[EUR][1000 genomes]
rs10930553	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11677757	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11687888	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12477699	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12997279	0.82[AMR][1000 genomes]
rs13020542	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13027402	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4972814	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4972815	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4972817	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4972818	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4972819	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]

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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173239200-173260200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:173244600-173254400	Weak transcription	Lung	lung
3	chr2:173246200-173254400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:173246200-173258400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:173246200-173260200	Weak transcription	Right Atrium	heart
6	chr2:173246400-173251200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:173246400-173251800	Weak transcription	Fetal Lung	lung
8	chr2:173246600-173251600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:173246600-173251800	Weak transcription	Fetal Heart	heart
10	chr2:173246600-173252200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:173247000-173258200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:173247600-173251400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:173248600-173254600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:173249600-173250600	Enhancers	Fetal Thymus	thymus
15	chr2:173249800-173250400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:173249800-173251800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:173249800-173262600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:173250000-173251800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:173250200-173260400	Weak transcription	Thymus	Thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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