Variant report

Variant	rs56006800
Chromosome Location	chr12:48378933-48378934
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10219510	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17801742	0.85[EUR][1000 genomes]
rs41263845	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41317929	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41317933	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41317939	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55698101	0.92[EUR][1000 genomes]
rs55744743	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56010633	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs740023	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv899061	chr12:48360620-48389023	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv519659	chr12:48366449-48389245	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr12:48358600-48381400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:48359200-48384000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:48363400-48383000	Weak transcription	Spleen	Spleen
4	chr12:48364400-48381200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:48365200-48381600	Weak transcription	Right Atrium	heart
6	chr12:48365400-48381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:48366200-48381200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:48366200-48381400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:48366200-48381600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:48374800-48379000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:48375000-48381600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:48375200-48381200	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:48376400-48380800	Strong transcription	Fetal Intestine Small	intestine
14	chr12:48376800-48391000	Weak transcription	Fetal Intestine Large	intestine
15	chr12:48378400-48379400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:48378400-48380000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:48378400-48381400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:48378800-48379000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:48378800-48379000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach

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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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