Variant report

Variant	rs72878133
Chromosome Location	chr2:50346383-50346384
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	chr2:50343694..50346494-chr2:50347691..50350682,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs58228125	1.00[AMR][1000 genomes]
rs59133746	1.00[AMR][1000 genomes]
rs60693233	1.00[AMR][1000 genomes]
rs72874408	1.00[AMR][1000 genomes]
rs72874678	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874680	1.00[AMR][1000 genomes]
rs72874682	1.00[AMR][1000 genomes]
rs72878177	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72881248	1.00[AMR][1000 genomes]
rs72881277	1.00[AMR][1000 genomes]
rs72881278	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885885	1.00[AMR][1000 genomes]
rs72885888	1.00[AMR][1000 genomes]
rs72885889	1.00[AMR][1000 genomes]
rs72885894	1.00[AMR][1000 genomes]
rs72885897	1.00[AMR][1000 genomes]
rs72885898	1.00[AMR][1000 genomes]
rs72887723	1.00[AMR][1000 genomes]
rs72887744	1.00[AMR][1000 genomes]
rs72887745	1.00[AMR][1000 genomes]
rs72887746	1.00[AMR][1000 genomes]
rs72887830	1.00[AMR][1000 genomes]
rs72887834	1.00[AMR][1000 genomes]
rs72887861	1.00[AMR][1000 genomes]
rs72887901	1.00[AMR][1000 genomes]
rs72889504	1.00[AMR][1000 genomes]
rs72889507	1.00[AMR][1000 genomes]
rs72889549	1.00[AMR][1000 genomes]
rs72891409	1.00[AMR][1000 genomes]
rs72891421	1.00[AMR][1000 genomes]
rs72891431	1.00[AMR][1000 genomes]
rs72891432	1.00[AMR][1000 genomes]
rs72891470	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2756536	chr2:50313811-50375695	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50337400-50349400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:50343200-50346800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:50343200-50347200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:50343600-50346800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:50344600-50349400	Weak transcription	Fetal Brain Female	brain
6	chr2:50344600-50352400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:50345200-50347200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:50345200-50354200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:50345600-50347600	Enhancers	Fetal Brain Male	brain
10	chr2:50345800-50346400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:50345800-50346600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr2:50345800-50347200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr2:50345800-50347600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr2:50346000-50346600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr2:50346000-50347600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:50346000-50347800	Weak transcription	Stomach Mucosa	stomach
17	chr2:50346000-50349000	Weak transcription	Brain Angular Gyrus	brain
18	chr2:50346000-50349200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:50346200-50346400	Enhancers	Brain Germinal Matrix	brain
20	chr2:50346200-50349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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