Variant report

Variant	rs4449824
Chromosome Location	chr8:117767507-117767508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117766167..117768500-chr8:117885619..117887391,2	K562	blood:
2	chr8:117767454..117768307-chr8:117778310..117778850,2	MCF-7	breast:
3	chr8:117766057..117771164-chr8:117775647..117780363,13	MCF-7	breast:
4	chr8:117745368..117747957-chr8:117764763..117767614,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147677	Chromatin interaction
ENSG00000147679	Chromatin interaction
ENSG00000264875	Chromatin interaction
ENSG00000164754	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10089815	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10094452	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10095889	0.85[ASN][1000 genomes]
rs10104144	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10109369	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10283122	0.80[ASW][hapmap];1.00[CEU][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10283129	0.80[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs10505284	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10505285	0.84[YRI][hapmap]
rs10808485	1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11775890	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs11776214	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11781754	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11783824	0.84[AMR][1000 genomes]
rs12546186	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12547063	0.83[YRI][hapmap]
rs12547108	0.82[EUR][1000 genomes]
rs12548402	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12675093	0.80[CHD][hapmap];0.92[JPT][hapmap]
rs13250873	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13258789	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13266314	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13268448	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1374299	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1436767	0.86[ASW][hapmap];0.96[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes]
rs16888705	0.84[YRI][hapmap]
rs16888709	0.84[YRI][hapmap]
rs16888721	0.83[YRI][hapmap]
rs17663673	0.90[AMR][1000 genomes]
rs17664079	1.00[CEU][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1867841	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2121339	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35792844	0.89[AFR][1000 genomes]
rs41339048	0.84[YRI][hapmap]
rs4372028	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4464999	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs4514005	0.83[ASN][1000 genomes]
rs4532623	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4876365	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4876671	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4876672	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4876673	0.81[AFR][1000 genomes]
rs4876675	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876677	0.89[AFR][1000 genomes]
rs4876679	0.87[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs4876680	0.83[ASN][1000 genomes]
rs62510194	0.90[ASN][1000 genomes]
rs6469659	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs6469660	0.80[CHD][hapmap];0.92[JPT][hapmap]
rs6981932	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6983034	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988190	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6990665	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6992589	1.00[CEU][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6995838	0.82[EUR][1000 genomes]
rs7006087	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7011256	0.85[AFR][1000 genomes]
rs7013007	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7014156	0.96[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7814084	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7817878	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7823870	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7828774	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7843792	0.86[ASW][hapmap];0.96[CEU][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4449824	MRPL13	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117766200-117768600	Active TSS	GM12878-XiMat	blood
2	chr8:117766400-117769200	Active TSS	K562	blood
3	chr8:117766600-117768600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:117766600-117768800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:117766600-117768800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:117766600-117768800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:117766800-117767600	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr8:117766800-117767600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr8:117766800-117767600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr8:117766800-117767600	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr8:117766800-117767600	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr8:117766800-117767600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:117766800-117767600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr8:117766800-117767600	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr8:117766800-117767600	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr8:117766800-117767800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:117766800-117767800	Flanking Active TSS	Liver	Liver
18	chr8:117766800-117768000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:117766800-117768600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr8:117766800-117768600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:117766800-117768600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr8:117766800-117768600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:117766800-117768600	Active TSS	Right Ventricle	heart
24	chr8:117766800-117768600	Active TSS	HSMMtube	muscle
25	chr8:117766800-117768800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:117766800-117768800	Active TSS	A549	lung
27	chr8:117767000-117767600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr8:117767000-117767600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr8:117767000-117767600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:117767000-117767600	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr8:117767000-117767600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr8:117767000-117767800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr8:117767000-117768400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:117767000-117768400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:117767000-117768600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:117767000-117768600	Active TSS	Fetal Intestine Large	intestine
37	chr8:117767000-117768600	Active TSS	Fetal Muscle Leg	muscle
38	chr8:117767000-117768600	Active TSS	Placenta	Placenta
39	chr8:117767000-117768600	Active TSS	Psoas Muscle	Psoas
40	chr8:117767000-117768600	Active TSS	HSMM	muscle
41	chr8:117767000-117768600	Active TSS	NHEK	skin
42	chr8:117767000-117768800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:117767000-117768800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:117767000-117768800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:117767000-117768800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr8:117767000-117768800	Active TSS	Muscle Satellite Cultured Cells	--
47	chr8:117767000-117768800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:117767000-117768800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:117767000-117768800	Active TSS	Fetal Kidney	kidney
50	chr8:117767000-117768800	Active TSS	HMEC	breast

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