Variant report

Variant	rs17697567
Chromosome Location	chr5:127593201-127593202
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	chr5:127590444..127593312-chr5:127595170..127597999,2	K562	blood:
2	chr5:127592052..127594063-chr5:127598247..127600436,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs468438	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4836371	0.83[AMR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127588400-127593800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:127588400-127595200	Weak transcription	Left Ventricle	heart
3	chr5:127588600-127593400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:127588600-127594000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:127588800-127613400	Weak transcription	Ovary	ovary
6	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
7	chr5:127589200-127594000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:127589200-127595200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:127589200-127600000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:127589200-127612200	Weak transcription	Osteobl	bone
11	chr5:127589400-127593800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:127589800-127594200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:127590600-127594200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:127591000-127594200	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:127591200-127594000	Weak transcription	Fetal Heart	heart
16	chr5:127591200-127600400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:127591200-127607400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:127591400-127594000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr5:127591400-127598400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:127591800-127593400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:127591800-127593800	Weak transcription	HMEC	breast
22	chr5:127591800-127598400	Weak transcription	Right Ventricle	heart
23	chr5:127592200-127593800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:127592200-127594200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:127592200-127606600	Weak transcription	NH-A	brain
26	chr5:127592400-127594000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:127592400-127594000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:127592400-127594000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:127592400-127594600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:127592400-127596400	Weak transcription	NHEK	skin
31	chr5:127592400-127603800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:127592600-127594000	Weak transcription	Fetal Kidney	kidney
33	chr5:127592600-127594800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:127592600-127597400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:127592600-127597400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:127592600-127598200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:127592600-127598600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:127592600-127598800	Weak transcription	Fetal Brain Female	brain
39	chr5:127592600-127604600	Strong transcription	Placenta	Placenta
40	chr5:127592600-127614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:127592800-127597400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:127592800-127612200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr5:127592800-127624400	Weak transcription	A549	lung
44	chr5:127592800-127631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:127593000-127594000	Weak transcription	Fetal Stomach	stomach
46	chr5:127593000-127597800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:127593000-127613400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:127593200-127594000	Weak transcription	Fetal Lung	lung
49	chr5:127593200-127595000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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