Variant report

Variant	rs468438
Chromosome Location	chr5:127604149-127604150
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11948128	1.00[AFR][1000 genomes]
rs17697567	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127588800-127613400	Weak transcription	Ovary	ovary
2	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
3	chr5:127589200-127612200	Weak transcription	Osteobl	bone
4	chr5:127591200-127607400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:127592200-127606600	Weak transcription	NH-A	brain
6	chr5:127592600-127604600	Strong transcription	Placenta	Placenta
7	chr5:127592600-127614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:127592800-127612200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:127592800-127624400	Weak transcription	A549	lung
10	chr5:127592800-127631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:127593000-127613400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:127593800-127635200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:127594800-127613600	Weak transcription	HMEC	breast
14	chr5:127596200-127623800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:127598800-127611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:127598800-127622600	Weak transcription	Fetal Intestine Large	intestine
17	chr5:127598800-127623800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:127599000-127606800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:127599000-127606800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:127599000-127611600	Weak transcription	NHEK	skin
21	chr5:127599000-127612000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:127599200-127605600	Weak transcription	Right Ventricle	heart
23	chr5:127599200-127606800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:127599200-127611600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:127599200-127613600	Weak transcription	Fetal Kidney	kidney
26	chr5:127599200-127622400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:127599200-127623000	Weak transcription	Fetal Intestine Small	intestine
28	chr5:127599400-127606800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:127599400-127606800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:127599400-127606800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:127599400-127606800	Weak transcription	Left Ventricle	heart
32	chr5:127599400-127607600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:127599400-127612200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:127599400-127624200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:127599400-127624200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:127599600-127605000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr5:127599600-127608800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:127600000-127606800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:127600600-127605200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:127600600-127607600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:127600600-127607600	Weak transcription	Fetal Lung	lung
42	chr5:127600600-127607600	Weak transcription	Fetal Muscle Leg	muscle
43	chr5:127600800-127607600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:127600800-127624200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:127601000-127607000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:127601000-127609200	Weak transcription	Fetal Stomach	stomach
47	chr5:127602200-127606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:127602400-127606600	Weak transcription	Fetal Heart	heart
49	chr5:127603400-127605400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:127603600-127610400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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