Variant report

Variant	rs13305
Chromosome Location	chr5:127594414-127594415
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10070365	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070942	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077809	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478806	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1478448	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17676236	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17676260	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17839651	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862294	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862295	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60245354	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60594762	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595812	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595814	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6863338	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872315	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872517	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876760	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6891025	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891306	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891472	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891479	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891484	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891984	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893195	1.00[CHB][hapmap]
rs7288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73784555	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707861	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127588400-127595200	Weak transcription	Left Ventricle	heart
2	chr5:127588800-127613400	Weak transcription	Ovary	ovary
3	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
4	chr5:127589200-127595200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:127589200-127600000	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:127589200-127612200	Weak transcription	Osteobl	bone
7	chr5:127591200-127600400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:127591200-127607400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:127591400-127598400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:127591800-127598400	Weak transcription	Right Ventricle	heart
11	chr5:127592200-127606600	Weak transcription	NH-A	brain
12	chr5:127592400-127594600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:127592400-127596400	Weak transcription	NHEK	skin
14	chr5:127592400-127603800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr5:127592600-127594800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:127592600-127597400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:127592600-127597400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:127592600-127598200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:127592600-127598600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:127592600-127598800	Weak transcription	Fetal Brain Female	brain
21	chr5:127592600-127604600	Strong transcription	Placenta	Placenta
22	chr5:127592600-127614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:127592800-127597400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:127592800-127612200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr5:127592800-127624400	Weak transcription	A549	lung
26	chr5:127592800-127631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:127593000-127597800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:127593000-127613400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:127593200-127595000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:127593400-127597200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:127593400-127600400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:127593800-127594800	Strong transcription	HMEC	breast
33	chr5:127593800-127595200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:127593800-127596200	Enhancers	Fetal Thymus	thymus
35	chr5:127593800-127597200	Weak transcription	Fetal Intestine Large	intestine
36	chr5:127593800-127597400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:127593800-127598400	Weak transcription	Fetal Intestine Small	intestine
38	chr5:127593800-127599400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:127593800-127600800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:127593800-127635200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr5:127594000-127594600	Strong transcription	Fetal Heart	heart
42	chr5:127594000-127594600	Strong transcription	Fetal Lung	lung
43	chr5:127594000-127594800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:127594000-127594800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:127594000-127595200	Strong transcription	Fetal Stomach	stomach
46	chr5:127594000-127595800	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr5:127594000-127598600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:127594000-127599400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:127594000-127599600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr5:127594200-127595600	Strong transcription	Fetal Muscle Trunk	muscle

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