Variant report

Variant	rs72874628
Chromosome Location	chr2:172143963-172143964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172143733..172145363-chr2:172148715..172151458,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4668381	0.93[EUR][1000 genomes]
rs55982809	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403470	0.81[AMR][1000 genomes]
rs72874622	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72874632	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73976130	0.84[ASN][1000 genomes]
rs9750596	0.86[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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172141200-172145200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:172141800-172145400	Weak transcription	Esophagus	oesophagus
3	chr2:172143400-172144400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:172143400-172144400	Enhancers	HMEC	breast
5	chr2:172143400-172144600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:172143400-172144600	Enhancers	NHEK	skin
7	chr2:172143400-172146600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:172143600-172144000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:172143600-172144000	Bivalent Enhancer	HepG2	liver
10	chr2:172143600-172144200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:172143600-172144200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:172143600-172144400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:172143600-172144400	Enhancers	A549	lung
14	chr2:172143600-172144800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:172143600-172144800	Enhancers	Brain Germinal Matrix	brain
16	chr2:172143600-172145000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:172143600-172145200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:172143600-172145600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:172143600-172147200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:172143800-172144000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:172143800-172144000	Enhancers	Stomach Smooth Muscle	stomach
22	chr2:172143800-172144000	Enhancers	NHLF	lung
23	chr2:172143800-172144200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:172143800-172144200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:172143800-172144200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:172143800-172144200	Enhancers	NHDF-Ad	bronchial
27	chr2:172143800-172144400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:172143800-172144400	Enhancers	Adipose Nuclei	Adipose
29	chr2:172143800-172144400	Enhancers	HSMMtube	muscle
30	chr2:172143800-172144600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:172143800-172144600	Enhancers	Fetal Muscle Leg	muscle
32	chr2:172143800-172144800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:172143800-172145000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:172143800-172145000	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links