Variant report

Variant	rs2269434
Chromosome Location	chr11:47360412-47360413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47265171..47267198-chr11:47359586..47362493,2	K562	blood:
2	chr11:47357637..47360736-chr11:47361620..47364167,4	K562	blood:
3	chr11:47289934..47292740-chr11:47359778..47361586,3	MCF-7	breast:
4	chr11:47359409..47362242-chr11:47362245..47364967,2	MCF-7	breast:
5	chr11:47358646..47361164-chr11:47367434..47369849,2	MCF-7	breast:
6	chr11:47358496..47361439-chr11:47361620..47365193,4	K562	blood:
7	chr11:47344879..47353948-chr11:47354460..47361122,13	K562	blood:
8	chr11:47360279..47361915-chr11:47365938..47368150,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134575	Chromatin interaction
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10501321	0.95[CHB][hapmap];0.84[EUR][1000 genomes]
rs1052373	0.94[CEU][hapmap];0.95[CHB][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1055510	0.84[EUR][1000 genomes]
rs10742799	0.84[EUR][1000 genomes]
rs10742801	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10769252	0.80[ASN][1000 genomes]
rs10838690	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10838691	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10838692	0.94[CEU][hapmap];0.95[CHB][hapmap];0.80[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10838693	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11039156	0.80[AFR][1000 genomes]
rs11039166	0.94[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11570094	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs12575456	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1375688	0.94[CEU][hapmap];0.95[CHB][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1449627	0.94[CEU][hapmap];0.95[CHB][hapmap];0.84[EUR][1000 genomes]
rs2013867	0.89[CEU][hapmap]
rs2167079	0.88[CEU][hapmap]
rs2301216	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2856650	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs326214	0.94[CEU][hapmap];0.95[CHB][hapmap];0.84[EUR][1000 genomes]
rs326222	0.89[CEU][hapmap]
rs3758673	0.88[CEU][hapmap]
rs3781621	0.85[EUR][1000 genomes]
rs3781622	0.94[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3816725	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs3847502	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4752824	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4752825	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4752980	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61896050	0.85[EUR][1000 genomes]
rs7109147	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7120118	0.89[CEU][hapmap]
rs7120957	0.85[EUR][1000 genomes]
rs7124955	0.88[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes]
rs7127907	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7395581	0.83[CEU][hapmap]
rs753993	0.80[YRI][hapmap]
rs7940809	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs830085	0.89[CEU][hapmap]
rs901746	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv554209	chr11:47353498-47364127	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2269434	ACP2	cis	multi-tissue	Pritchard
rs2269434	ACP2	Cis_1M	lymphoblastoid	RTeQTL
rs2269434	ACP2	cis	Thyroid	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47343200-47370600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:47351400-47375600	Weak transcription	Primary B cells from cord blood	blood
3	chr11:47352400-47364000	Weak transcription	Lung	lung
4	chr11:47352600-47363200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:47352600-47366000	Weak transcription	Brain Germinal Matrix	brain
6	chr11:47352800-47361600	Weak transcription	Brain Anterior Caudate	brain
7	chr11:47353000-47360600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:47353600-47362800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:47353600-47375400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:47354000-47369800	Weak transcription	Right Atrium	heart
11	chr11:47354200-47361000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:47354400-47361600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:47354400-47362600	Weak transcription	Fetal Intestine Small	intestine
14	chr11:47354800-47372800	Weak transcription	Gastric	stomach
15	chr11:47355000-47362800	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:47356600-47362000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:47356800-47367200	Strong transcription	Right Ventricle	heart
18	chr11:47358400-47363600	Enhancers	Placenta	Placenta
19	chr11:47358400-47364000	Genic enhancers	Fetal Heart	heart
20	chr11:47358600-47361400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr11:47358800-47361200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:47359400-47361600	Weak transcription	K562	blood
23	chr11:47359800-47363600	Strong transcription	Left Ventricle	heart
24	chr11:47360000-47363200	Weak transcription	Hela-S3	cervix
25	chr11:47360200-47360800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:47360400-47361000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:47360400-47361400	Strong transcription	Spleen	Spleen
28	chr11:47360400-47361800	Bivalent Enhancer	HepG2	liver

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