Variant report

Variant	rs2650170
Chromosome Location	chr12:118021755-118021756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117888393..117890211-chr12:118019935..118021783,2	K562	blood:

Variant related genes	Relation type
ENSG00000089250	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11068568	0.86[EUR][1000 genomes]
rs12422920	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12425044	1.00[ASN][1000 genomes]
rs12425446	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12425491	0.81[ASN][1000 genomes]
rs12425928	0.81[ASN][1000 genomes]
rs12426011	1.00[ASN][1000 genomes]
rs17510713	1.00[ASN][1000 genomes]
rs17510790	1.00[ASN][1000 genomes]
rs1875142	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][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	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118019000-118025000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:118020000-118021800	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr12:118021200-118022800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:118021200-118023000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:118021400-118021800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:118021400-118021800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr12:118021400-118021800	Enhancers	Adipose Nuclei	Adipose
8	chr12:118021400-118021800	Enhancers	Brain Germinal Matrix	brain
9	chr12:118021400-118022000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr12:118021400-118022000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr12:118021400-118022000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:118021400-118022000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr12:118021400-118022400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:118021600-118021800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:118021600-118021800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:118021600-118021800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:118021600-118021800	Bivalent Enhancer	Fetal Kidney	kidney
18	chr12:118021600-118021800	Bivalent Enhancer	NHEK	skin
19	chr12:118021600-118022000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:118021600-118022000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:118021600-118022000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:118021600-118022000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr12:118021600-118022000	Bivalent Enhancer	Fetal Stomach	stomach
24	chr12:118021600-118022200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:118021600-118022200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr12:118021600-118022200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:118021600-118022400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:118021600-118022600	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links