Variant report

Variant	rs17412225
Chromosome Location	chr5:106728586-106728587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:106728569-106728618	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
EFNA5	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10491394	1.00[CHB][hapmap]
rs153100	1.00[CHB][hapmap]
rs17159868	1.00[CHB][hapmap]
rs17534228	1.00[CHB][hapmap]
rs17534235	1.00[CHB][hapmap]
rs41464645	1.00[CHB][hapmap]
rs6894788	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv527761	chr5:106725691-106728586	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106720400-106740800	Weak transcription	Aorta	Aorta
2	chr5:106723600-106732000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:106724200-106730200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:106724800-106729000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:106725000-106729800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:106725200-106729600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:106725200-106730000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:106725200-106733800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:106725400-106729400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:106725400-106729400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:106725400-106729600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:106725600-106729200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:106725600-106729400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:106725600-106729600	Weak transcription	Fetal Lung	lung
15	chr5:106725600-106732200	Weak transcription	Left Ventricle	heart
16	chr5:106725800-106729400	Weak transcription	NHLF	lung
17	chr5:106725800-106729800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:106725800-106730200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:106725800-106731200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:106725800-106731800	Weak transcription	Osteobl	bone
21	chr5:106725800-106732000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:106725800-106732000	Weak transcription	Fetal Heart	heart
23	chr5:106725800-106732400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:106725800-106740400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:106726000-106729400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:106726000-106729400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:106726000-106729400	Weak transcription	HMEC	breast
28	chr5:106726000-106730000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:106726000-106730000	Weak transcription	Stomach Mucosa	stomach
30	chr5:106726000-106731000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:106726000-106731400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:106726000-106731400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:106726200-106728600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:106727800-106728600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:106727800-106729000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:106728000-106730600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:106728200-106728600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:106728200-106728600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr5:106728200-106728600	Enhancers	Fetal Kidney	kidney
40	chr5:106728200-106730200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:106728200-106730600	Enhancers	NHDF-Ad	bronchial
42	chr5:106728400-106732200	Weak transcription	Ovary	ovary
43	chr5:106728400-106732600	Enhancers	A549	lung
44	chr5:106728400-106738200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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