Variant report

Variant	rs5018263
Chromosome Location	chr1:157993760-157993761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11264874	1.00[ASN][1000 genomes]
rs11264878	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs12021619	1.00[CHB][hapmap]
rs12037357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12039337	1.00[CHB][hapmap]
rs1925038	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1972216	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs2224932	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs4445460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4971174	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap];0.92[ASN][1000 genomes]
rs4971177	0.92[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4971179	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4971180	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4971181	0.81[EUR][1000 genomes]
rs4971182	0.82[EUR][1000 genomes]
rs4971183	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4971184	0.80[EUR][1000 genomes]
rs55712021	0.95[ASN][1000 genomes]
rs59269620	0.95[ASN][1000 genomes]
rs6427415	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6661149	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6661160	0.81[EUR][1000 genomes]
rs6664509	0.82[EUR][1000 genomes]
rs6665898	1.00[CEU][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs6666443	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6680191	0.82[CEU][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs7414379	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7527064	1.00[ASN][1000 genomes]
rs7530591	1.00[ASN][1000 genomes]
rs7537784	1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs7548850	0.90[YRI][hapmap]
rs7554764	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7555783	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157975400-157996800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:157984400-157995400	Weak transcription	Fetal Brain Female	brain
3	chr1:157985200-157995000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:157985200-158006000	Weak transcription	Fetal Thymus	thymus
5	chr1:157987200-157996400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr1:157989400-158007400	Weak transcription	Gastric	stomach
7	chr1:157989800-157993800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:157990000-157993800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:157990000-157994600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:157990000-157996400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:157991200-157994600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:157991200-157994600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:157991200-157996600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:157991400-157996200	Enhancers	NHDF-Ad	bronchial
15	chr1:157991400-157997000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:157991400-158000400	Weak transcription	Fetal Intestine Large	intestine
17	chr1:157991800-157995000	Weak transcription	Stomach Mucosa	stomach
18	chr1:157991800-158002200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:157991800-158007400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:157992000-157994400	Weak transcription	Small Intestine	intestine
21	chr1:157992000-157999200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:157992200-157995200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:157992200-157995600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:157992200-157996200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:157992600-157994400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:157992600-157996400	Genic enhancers	NHLF	lung
27	chr1:157992800-157995200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:157992800-158000600	Weak transcription	Thymus	Thymus
29	chr1:157993000-157993800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:157993000-157994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:157993000-157994200	Weak transcription	Right Atrium	heart
32	chr1:157993000-157994400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:157993000-157994400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:157993000-157994400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:157993000-157994400	Weak transcription	Aorta	Aorta
36	chr1:157993000-157994400	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:157993000-157994400	Weak transcription	Fetal Heart	heart
38	chr1:157993000-157994400	Weak transcription	Left Ventricle	heart
39	chr1:157993000-157994400	Weak transcription	Ovary	ovary
40	chr1:157993000-157994400	Weak transcription	HSMM	muscle
41	chr1:157993000-157994400	Weak transcription	NH-A	brain
42	chr1:157993000-157994600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:157993000-157994600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:157993000-157994600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:157993000-157994800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:157993000-157994800	Weak transcription	Colonic Mucosa	Colon
47	chr1:157993000-157994800	Weak transcription	Lung	lung
48	chr1:157993000-157994800	Weak transcription	Right Ventricle	heart
49	chr1:157993000-157995600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:157993000-157995600	Weak transcription	Spleen	Spleen

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