Variant report

Variant	rs59053231
Chromosome Location	chr4:56921734-56921735
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	chr4:56918589..56921533-chr4:56921686..56923610,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10517367	0.95[ASN][1000 genomes]
rs11938852	0.91[ASN][1000 genomes]
rs13112752	0.96[ASN][1000 genomes]
rs17086249	0.93[ASN][1000 genomes]
rs2412720	0.96[ASN][1000 genomes]
rs2412721	0.93[ASN][1000 genomes]
rs2412722	0.96[ASN][1000 genomes]
rs2412725	0.88[ASN][1000 genomes]
rs2412726	0.91[ASN][1000 genomes]
rs2899054	0.93[ASN][1000 genomes]
rs34546346	0.86[ASN][1000 genomes]
rs34577487	0.93[ASN][1000 genomes]
rs35976456	0.91[ASN][1000 genomes]
rs36092812	0.88[ASN][1000 genomes]
rs4355456	0.95[ASN][1000 genomes]
rs4645275	0.95[ASN][1000 genomes]
rs59838410	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60296378	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6819574	0.90[ASN][1000 genomes]
rs6826903	0.96[ASN][1000 genomes]
rs6836376	0.88[ASN][1000 genomes]
rs6839870	0.93[ASN][1000 genomes]
rs73155600	0.91[ASN][1000 genomes]
rs73155601	0.95[ASN][1000 genomes]
rs73162699	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73162701	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7672541	0.93[ASN][1000 genomes]
rs7676365	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59053231	KIAA1211	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56916400-56936200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:56916600-56929400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:56916600-56931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:56916600-56934200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:56917200-56922400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:56917200-56923600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:56917200-56934600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:56920200-56922000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:56920200-56922200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:56920600-56922000	Enhancers	Fetal Brain Male	brain
11	chr4:56921000-56921800	Flanking Active TSS	Fetal Brain Female	brain
12	chr4:56921000-56922000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:56921000-56922000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:56921000-56922200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:56921000-56922200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:56921000-56922200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:56921000-56922400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:56921000-56922400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:56921000-56922600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:56921000-56922600	Enhancers	Duodenum Mucosa	Duodenum
21	chr4:56921000-56923600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:56921200-56922000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr4:56921200-56922200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:56921200-56922200	Enhancers	Primary hematopoietic stem cells	blood
25	chr4:56921200-56922200	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr4:56921200-56922600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:56921200-56922600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:56921200-56923000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:56921200-56923800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:56921200-56923800	Enhancers	Fetal Intestine Large	intestine
31	chr4:56921200-56923800	Enhancers	Fetal Intestine Small	intestine
32	chr4:56921200-56923800	Enhancers	HepG2	liver
33	chr4:56921400-56922000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:56921400-56922200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr4:56921600-56921800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:56921600-56921800	Enhancers	Fetal Kidney	kidney
37	chr4:56921600-56922000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:56921600-56922200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr4:56921600-56922200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:56921600-56922400	Enhancers	Fetal Lung	lung

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