Variant report

Variant	rs12997279
Chromosome Location	chr2:173248909-173248910
allele	C/T
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]
rs10930553	0.80[AMR][1000 genomes]
rs12477699	0.80[AMR][1000 genomes]
rs13027402	0.82[AMR][1000 genomes]
rs13028213	0.82[AMR][1000 genomes]
rs4972814	0.80[AMR][1000 genomes]
rs4972815	0.80[AMR][1000 genomes]
rs4972817	0.81[AMR][1000 genomes]
rs4972818	0.81[AMR][1000 genomes]
rs4972819	0.81[AMR][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:21 , 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	chr2:173246200-173249400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:173246200-173254400	Weak transcription	Fetal Intestine Small	intestine
5	chr2:173246200-173258400	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:173246200-173260200	Weak transcription	Right Atrium	heart
7	chr2:173246400-173249600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:173246400-173249600	Weak transcription	Fetal Thymus	thymus
9	chr2:173246400-173249600	Weak transcription	Thymus	Thymus
10	chr2:173246400-173251200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:173246400-173251800	Weak transcription	Fetal Lung	lung
12	chr2:173246600-173251600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:173246600-173251800	Weak transcription	Fetal Heart	heart
14	chr2:173246600-173252200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:173247000-173258200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:173247200-173249400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:173247600-173251400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:173247800-173249800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:173248400-173249200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:173248400-173250000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:173248600-173254600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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