Variant report

Variant	rs4450608
Chromosome Location	chr2:114576118-114576119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114574865..114577393-chr2:114628655..114630821,2	MCF-7	breast:
2	chr2:114567071..114569401-chr2:114573274..114576258,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10172576	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10173891	0.86[JPT][hapmap]
rs11123215	0.86[JPT][hapmap]
rs11895582	0.86[JPT][hapmap]
rs11895596	0.86[JPT][hapmap]
rs11903680	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13428539	0.86[JPT][hapmap]
rs1467292	0.86[JPT][hapmap]
rs1504043	0.86[JPT][hapmap]
rs3828257	0.86[JPT][hapmap]
rs4292100	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4362566	0.86[JPT][hapmap]
rs4389338	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848353	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4848357	0.82[JPT][hapmap]
rs4849289	0.92[YRI][hapmap]
rs4849290	0.94[YRI][hapmap]
rs62170141	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62170142	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62170143	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62170145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62170146	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62170148	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66867371	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6705329	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6706992	0.86[JPT][hapmap]
rs6715643	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6724586	0.86[JPT][hapmap]
rs6732402	0.86[JPT][hapmap]
rs6741741	0.86[JPT][hapmap]
rs6741785	0.85[JPT][hapmap]
rs6742452	0.86[JPT][hapmap]
rs6747278	1.00[JPT][hapmap]
rs72835407	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7561061	0.86[JPT][hapmap]
rs7589706	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs924804	0.86[JPT][hapmap]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4450608	RPL23AP7	cis	Artery Tibial	GTEx
rs4450608	SLC35F5	cis	Thyroid	GTEx
rs4450608	DDX11L2	cis	Heart Left Ventricle	GTEx
rs4450608	DDX11L2	cis	Adipose Subcutaneous	GTEx
rs4450608	DDX11L2	cis	Muscle Skeletal	GTEx
rs4450608	ACTR3	Cis_1M	lymphoblastoid	RTeQTL
rs4450608	RPL23AP7	cis	Whole Blood	GTEx
rs4450608	DDX11L2	cis	Whole Blood	GTEx
rs4450608	DDX11L2	cis	Esophagus Mucosa	GTEx
rs4450608	DDX11L2	cis	lung	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114568200-114586000	Weak transcription	Primary T cells from cord blood	blood
2	chr2:114574200-114603600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:114575400-114576200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:114575400-114576400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:114575400-114576400	Enhancers	Lung	lung
6	chr2:114575400-114576400	Enhancers	Pancreas	Pancrea
7	chr2:114575400-114576400	Active TSS	Right Atrium	heart
8	chr2:114575400-114576800	Enhancers	HUVEC	blood vessel
9	chr2:114575400-114577200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:114575400-114577200	Enhancers	Fetal Intestine Small	intestine
11	chr2:114575400-114578000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:114575400-114578200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:114575400-114578200	Enhancers	Fetal Intestine Large	intestine
14	chr2:114575600-114576400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:114575600-114576400	Enhancers	Psoas Muscle	Psoas
16	chr2:114575600-114576400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr2:114575600-114576600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:114575600-114576800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:114575600-114577000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:114575600-114577000	Enhancers	Fetal Kidney	kidney
21	chr2:114575600-114577000	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:114575600-114577000	Enhancers	HSMM	muscle
23	chr2:114575600-114577200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:114575800-114576200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:114575800-114576200	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr2:114575800-114576400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:114575800-114576400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:114575800-114576400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr2:114575800-114576400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:114575800-114576400	Enhancers	Fetal Stomach	stomach
31	chr2:114575800-114576600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr2:114575800-114576600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:114575800-114576600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:114575800-114576600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:114575800-114576600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:114575800-114576600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr2:114575800-114576600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:114575800-114576600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr2:114575800-114576600	Flanking Active TSS	A549	lung
40	chr2:114575800-114576600	Flanking Active TSS	NH-A	brain
41	chr2:114575800-114576600	Flanking Active TSS	Osteobl	bone
42	chr2:114575800-114576800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:114575800-114576800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:114575800-114576800	Enhancers	Fetal Heart	heart
45	chr2:114575800-114577000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:114575800-114577200	Weak transcription	Ovary	ovary
47	chr2:114576000-114576200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:114576000-114576200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:114576000-114576200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr2:114576000-114576400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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