Variant report

Variant	rs2255119
Chromosome Location	chr4:100543745-100543746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100542517..100545384-chr4:100546339..100548897,2	K562	blood:
2	chr4:100541883..100543841-chr4:100866288..100868388,2	K562	blood:
3	chr4:100541785..100543841-chr4:100866888..100869744,2	K562	blood:
4	chr4:100542629..100544781-chr4:100550166..100551692,2	K562	blood:

Variant related genes	Relation type
ENSG00000164031	Chromatin interaction
ENSG00000248676	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10007794	0.86[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs10008896	0.90[ASN][1000 genomes]
rs10008928	0.90[ASN][1000 genomes]
rs10013868	0.90[ASN][1000 genomes]
rs10013883	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10020461	0.86[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs10022775	0.90[ASN][1000 genomes]
rs10026790	0.88[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs10030937	0.88[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs1032827	0.85[JPT][hapmap]
rs10516443	0.90[ASN][1000 genomes]
rs10516444	0.88[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs10516445	0.83[LWK][hapmap];1.00[YRI][hapmap]
rs1054730	0.87[ASN][1000 genomes]
rs1057615	0.92[ASN][1000 genomes]
rs11097668	0.90[ASN][1000 genomes]
rs11933250	0.86[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs11933337	0.88[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs11933520	0.88[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs11933937	0.92[ASN][1000 genomes]
rs11934921	0.92[ASN][1000 genomes]
rs11935423	0.88[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs11935581	0.90[ASN][1000 genomes]
rs11937107	0.92[ASN][1000 genomes]
rs11937273	0.92[ASN][1000 genomes]
rs11943031	0.92[ASN][1000 genomes]
rs11944749	0.88[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs11944750	0.90[ASN][1000 genomes]
rs11944752	0.88[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs11946292	0.87[ASN][1000 genomes]
rs11946367	0.82[CHB][hapmap];0.90[ASN][1000 genomes]
rs11946658	0.88[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs11947558	0.92[ASN][1000 genomes]
rs1503777	0.88[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs1503778	0.92[ASN][1000 genomes]
rs17029163	0.92[ASN][1000 genomes]
rs17531824	0.88[ASN][1000 genomes]
rs17598226	0.92[ASN][1000 genomes]
rs1800591	0.92[ASN][1000 genomes]
rs1800804	0.88[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2637768	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2654838	0.84[JPT][hapmap]
rs2718684	0.97[ASN][1000 genomes]
rs28368786	0.92[ASN][1000 genomes]
rs28376611	0.92[ASN][1000 genomes]
rs28431971	0.92[ASN][1000 genomes]
rs28435607	0.92[ASN][1000 genomes]
rs28444681	0.90[ASN][1000 genomes]
rs28473262	0.92[ASN][1000 genomes]
rs28497720	0.92[ASN][1000 genomes]
rs28500697	0.90[ASN][1000 genomes]
rs2851225	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28595160	0.92[ASN][1000 genomes]
rs28608631	0.90[ASN][1000 genomes]
rs28621060	0.90[ASN][1000 genomes]
rs28647519	0.92[ASN][1000 genomes]
rs2866164	0.92[ASN][1000 genomes]
rs28666735	0.91[ASN][1000 genomes]
rs28678377	0.90[ASN][1000 genomes]
rs28704064	0.92[ASN][1000 genomes]
rs28789770	0.92[ASN][1000 genomes]
rs28849180	0.92[ASN][1000 genomes]
rs2903201	0.87[ASN][1000 genomes]
rs3816873	0.88[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs3817083	0.88[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs4423880	0.90[ASN][1000 genomes]
rs45440196	0.90[ASN][1000 genomes]
rs6815231	0.82[ASN][1000 genomes]
rs6815416	0.92[ASN][1000 genomes]
rs6825248	0.91[ASN][1000 genomes]
rs6839296	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6841211	0.91[ASN][1000 genomes]
rs6841282	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6854911	0.88[CHB][hapmap];0.87[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs72681967	0.90[ASN][1000 genomes]
rs7656665	0.92[ASN][1000 genomes]
rs7661656	0.90[ASN][1000 genomes]
rs7661964	0.92[ASN][1000 genomes]
rs7682548	0.92[ASN][1000 genomes]
rs7686425	0.90[ASN][1000 genomes]
rs7687762	0.88[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs7693203	0.92[ASN][1000 genomes]
rs881981	0.85[LWK][hapmap];0.86[YRI][hapmap]
rs9307240	0.88[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs991811	0.85[LWK][hapmap];1.00[YRI][hapmap]
rs9997840	0.85[CHB][hapmap];0.88[JPT][hapmap];0.90[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	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100516400-100546200	Strong transcription	Liver	Liver
2	chr4:100518800-100545200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:100522600-100545800	Strong transcription	Fetal Intestine Large	intestine
4	chr4:100532800-100545200	Weak transcription	Aorta	Aorta
5	chr4:100534800-100545400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:100536800-100545200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:100537600-100544200	Strong transcription	HepG2	liver
8	chr4:100538200-100556000	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:100539400-100545200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:100539800-100544200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:100541000-100544200	Strong transcription	Duodenum Mucosa	Duodenum
12	chr4:100541800-100544000	Strong transcription	Fetal Intestine Small	intestine
13	chr4:100541800-100547200	Weak transcription	Small Intestine	intestine
14	chr4:100542200-100545400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:100542400-100545200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:100542800-100546800	Enhancers	Fetal Lung	lung
17	chr4:100543200-100544200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:100543400-100543800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:100543400-100543800	Enhancers	Colon Smooth Muscle	Colon
20	chr4:100543400-100544000	Enhancers	Psoas Muscle	Psoas
21	chr4:100543600-100543800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:100543600-100545200	Weak transcription	Fetal Stomach	stomach

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