Variant report

Variant	rs13139132
Chromosome Location	chr4:56928913-56928914
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56914879..56917642-chr4:56927334..56929102,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1108947	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1108948	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11721368	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11729231	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11934389	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11938852	0.90[EUR][1000 genomes]
rs13102087	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13109242	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13113844	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13121092	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13147381	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17086249	0.91[EUR][1000 genomes]
rs2412717	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2412718	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2412719	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2412721	0.91[EUR][1000 genomes]
rs2412723	0.82[ASN][1000 genomes]
rs2412726	0.90[EUR][1000 genomes]
rs2412728	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2611818	0.83[EUR][1000 genomes]
rs2702332	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2899054	0.90[EUR][1000 genomes]
rs34181414	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34683632	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34796075	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35204688	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35400594	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35417087	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35736349	0.82[EUR][1000 genomes]
rs35770075	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35786306	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35786805	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35976456	0.89[EUR][1000 genomes]
rs4364320	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58795379	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58927874	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6554328	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6810857	0.85[EUR][1000 genomes]
rs6819574	0.84[EUR][1000 genomes]
rs6836376	0.89[EUR][1000 genomes]
rs6839220	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6839870	0.90[EUR][1000 genomes]
rs71601617	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7657181	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7659294	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7659694	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7663270	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7672541	0.91[EUR][1000 genomes]
rs7676365	0.85[EUR][1000 genomes]
rs7681714	0.82[ASN][1000 genomes]
rs7685766	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[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
rs13139132	KIAA1211	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 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	chr4:56917200-56934600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:56922000-56934200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:56922000-56934400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:56922000-56935600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:56922200-56934000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:56922200-56935000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:56922800-56934000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:56922800-56934200	Weak transcription	Fetal Stomach	stomach
13	chr4:56922800-56934800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:56923800-56936400	Weak transcription	Fetal Intestine Small	intestine
15	chr4:56923800-56936800	Weak transcription	Fetal Intestine Large	intestine
16	chr4:56925200-56932800	Weak transcription	Brain Germinal Matrix	brain
17	chr4:56925200-56933400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:56926800-56936200	Weak transcription	Fetal Kidney	kidney
19	chr4:56927000-56930000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:56927200-56939800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:56927400-56929000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:56928000-56929400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:56928400-56929400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:56928400-56930000	Enhancers	HepG2	liver
25	chr4:56928600-56929000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:56928600-56929600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:56928600-56929600	Enhancers	Placenta	Placenta
28	chr4:56928600-56930600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:56928600-56931200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:56928800-56929000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:56928800-56929800	Enhancers	Fetal Brain Male	brain
32	chr4:56928800-56929800	Enhancers	Fetal Brain Female	brain

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