Variant report

Variant	rs13391151
Chromosome Location	chr2:72982609-72982610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72981525..72984417-chr2:72997552..72999644,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10187814	0.90[AMR][1000 genomes]
rs10188019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10195520	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205532	0.90[ASW][hapmap];1.00[MEX][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10469964	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11883986	0.90[AMR][1000 genomes]
rs11891034	1.00[MEX][hapmap]
rs11902280	0.90[AMR][1000 genomes]
rs12105464	0.89[AMR][1000 genomes]
rs13390314	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13397183	0.90[AMR][1000 genomes]
rs13399612	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405937	0.90[AMR][1000 genomes]
rs13416510	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13426439	0.88[AFR][1000 genomes]
rs28581818	0.90[AMR][1000 genomes]
rs6546784	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6738020	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7563870	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7585242	0.90[AMR][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	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13391151	PRRX1	trans	lymphoblastoid	seeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72905800-72984400	Weak transcription	Aorta	Aorta
2	chr2:72923000-73008600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:72938200-72987800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:72971800-72982800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:72975200-72982800	Weak transcription	Brain Substantia Nigra	brain
6	chr2:72976000-72988400	Weak transcription	Fetal Lung	lung
7	chr2:72979400-72984400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:72980400-72982800	Enhancers	Fetal Intestine Large	intestine
9	chr2:72980400-72984600	Enhancers	HepG2	liver
10	chr2:72980600-72983000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:72980800-72983000	Enhancers	Small Intestine	intestine
12	chr2:72981000-72982800	Weak transcription	Right Ventricle	heart
13	chr2:72981400-73000800	Weak transcription	Pancreas	Pancrea
14	chr2:72981800-72982800	Weak transcription	Left Ventricle	heart
15	chr2:72982200-72982800	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:72982200-72983000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr2:72982200-72983000	Enhancers	Fetal Intestine Small	intestine
18	chr2:72982200-72983200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:72982200-72983200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:72982200-72983200	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:72982200-72983800	Enhancers	HMEC	breast
22	chr2:72982200-72983800	Enhancers	NHDF-Ad	bronchial
23	chr2:72982200-72984000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:72982200-72985200	Enhancers	Stomach Mucosa	stomach
25	chr2:72982200-72985800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:72982200-72987600	Enhancers	Fetal Heart	heart
27	chr2:72982400-72982800	Enhancers	Colon Smooth Muscle	Colon
28	chr2:72982400-72982800	Enhancers	Fetal Stomach	stomach
29	chr2:72982400-72983400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:72982400-72983400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:72982400-72983600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:72982400-72983800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:72982400-72984000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:72982400-72984800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:72982400-72985200	Enhancers	HUVEC	blood vessel
36	chr2:72982600-72983000	Enhancers	A549	lung
37	chr2:72982600-72983000	Enhancers	Hela-S3	cervix
38	chr2:72982600-72983200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:72982600-72983200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:72982600-72983200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:72982600-72984600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:72982600-72985200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:72982600-72985200	Enhancers	NHEK	skin

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