Variant report

Variant	rs11431
Chromosome Location	chr14:55255673-55255674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55031208..55035304-chr14:55253192..55258095,4	K562	blood:
2	chr14:55031998..55034454-chr14:55254526..55256468,2	MCF-7	breast:
3	chr14:55255469..55258062-chr14:55260338..55262456,2	K562	blood:

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10136563	0.96[EUR][1000 genomes]
rs10138916	0.96[EUR][1000 genomes]
rs1040877	0.96[EUR][1000 genomes]
rs1114050	0.96[CEU][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes]
rs1114051	0.96[CEU][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes]
rs12586289	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12886835	0.80[EUR][1000 genomes]
rs12886870	0.96[EUR][1000 genomes]
rs12887011	0.96[EUR][1000 genomes]
rs2181049	0.96[EUR][1000 genomes]
rs2281650	0.85[CEU][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2281652	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.87[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2281653	0.92[CEU][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs3813402	0.89[ASW][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs4402472	0.96[CEU][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes]
rs4409990	0.96[CEU][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes]
rs4506812	1.00[CEU][hapmap];0.80[JPT][hapmap];0.96[EUR][1000 genomes]
rs4508355	0.96[EUR][1000 genomes]
rs4511452	0.84[EUR][1000 genomes]
rs4516125	0.96[EUR][1000 genomes]
rs4898855	0.83[EUR][1000 genomes]
rs4901542	0.81[LWK][hapmap];0.83[YRI][hapmap]
rs4901547	0.95[EUR][1000 genomes]
rs4901548	0.81[CEU][hapmap]
rs6572975	0.96[CEU][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes]
rs6572976	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6572977	0.96[CEU][hapmap];0.80[JPT][hapmap];0.95[EUR][1000 genomes]
rs6572978	0.95[EUR][1000 genomes]
rs6572980	0.88[CEU][hapmap];0.83[YRI][hapmap];0.91[EUR][1000 genomes]
rs709939	0.90[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7148657	0.96[EUR][1000 genomes]
rs7150498	0.88[CEU][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs7150628	0.96[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7151853	0.96[EUR][1000 genomes]
rs7153975	0.96[EUR][1000 genomes]
rs8006657	0.81[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs8011598	0.96[EUR][1000 genomes]
rs8011837	0.96[EUR][1000 genomes]
rs8011848	0.96[EUR][1000 genomes]
rs8013211	0.96[EUR][1000 genomes]
rs8021151	0.96[CEU][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs8021325	0.96[CEU][hapmap];0.81[JPT][hapmap];0.95[EUR][1000 genomes]
rs8021957	0.96[CEU][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs8022503	0.96[CEU][hapmap];0.81[JPT][hapmap];0.95[EUR][1000 genomes]
rs911614	0.82[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs911615	0.85[AFR][1000 genomes]
rs927379	0.96[EUR][1000 genomes]
rs927380	0.96[EUR][1000 genomes]
rs927381	0.96[EUR][1000 genomes]
rs927382	0.96[CEU][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes]
rs927383	0.96[CEU][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes]
rs971256	0.81[CEU][hapmap]

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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv1004703	chr14:55252382-55256132	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11431	RPL13AP3	cis	parietal	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55237600-55261200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:55240600-55257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:55240800-55256000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:55240800-55256400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:55240800-55256400	Weak transcription	Brain Angular Gyrus	brain
6	chr14:55240800-55259200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:55240800-55261600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:55240800-55261600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:55241000-55256400	Weak transcription	Ovary	ovary
10	chr14:55241000-55258400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:55241000-55259200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:55241000-55260200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:55241000-55263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:55241200-55257600	Weak transcription	K562	blood
15	chr14:55241200-55272200	Weak transcription	A549	lung
16	chr14:55241800-55257400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:55243400-55256000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:55243600-55261400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:55243800-55257400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:55243800-55258000	Strong transcription	HUVEC	blood vessel
21	chr14:55244000-55257400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:55244000-55257400	Strong transcription	NHEK	skin
23	chr14:55244000-55258200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:55244200-55257800	Strong transcription	HSMMtube	muscle
25	chr14:55244200-55258000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:55244200-55258200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:55244400-55256400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:55244400-55259400	Strong transcription	NHLF	lung
29	chr14:55244800-55257800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:55245800-55257400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:55246600-55259400	Strong transcription	NHDF-Ad	bronchial
32	chr14:55247000-55257600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:55247200-55258000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr14:55250000-55258000	Strong transcription	Rectal Smooth Muscle	rectum
35	chr14:55250000-55258800	Weak transcription	Primary B cells from cord blood	blood
36	chr14:55250400-55257800	Strong transcription	Fetal Stomach	stomach
37	chr14:55250600-55258600	Weak transcription	Colonic Mucosa	Colon
38	chr14:55250600-55259000	Strong transcription	Adipose Nuclei	Adipose
39	chr14:55250600-55259000	Weak transcription	Fetal Lung	lung
40	chr14:55250800-55258000	Strong transcription	HepG2	liver
41	chr14:55251000-55257200	Weak transcription	Esophagus	oesophagus
42	chr14:55251000-55258000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr14:55251400-55258200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:55251600-55258000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:55251800-55258000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:55252000-55256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:55252000-55257800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr14:55252000-55258200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:55252200-55257400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:55252400-55255800	Genic enhancers	Right Ventricle	heart

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