Variant report

Variant	rs28415087
Chromosome Location	chr4:55412063-55412064
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:55404333..55406953-chr4:55409962..55412535,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10017829	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11936787	1.00[EUR][1000 genomes]
rs17084432	1.00[EUR][1000 genomes]
rs17084439	1.00[EUR][1000 genomes]
rs17084451	1.00[EUR][1000 genomes]
rs1876481	1.00[EUR][1000 genomes]
rs218274	1.00[EUR][1000 genomes]
rs218275	1.00[EUR][1000 genomes]
rs218276	1.00[EUR][1000 genomes]
rs218277	1.00[EUR][1000 genomes]
rs28513544	1.00[EUR][1000 genomes]
rs28548789	1.00[EUR][1000 genomes]
rs28753670	1.00[EUR][1000 genomes]
rs35111648	1.00[EUR][1000 genomes]
rs6815523	1.00[EUR][1000 genomes]
rs6841662	1.00[EUR][1000 genomes]
rs73155490	1.00[EUR][1000 genomes]
rs73157485	1.00[EUR][1000 genomes]
rs73159412	1.00[EUR][1000 genomes]
rs7675121	1.00[EUR][1000 genomes]
rs973924	1.00[EUR][1000 genomes]
rs9995779	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55406200-55413800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:55406200-55416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:55406200-55434200	Weak transcription	Right Atrium	heart
4	chr4:55406400-55412200	Weak transcription	Esophagus	oesophagus
5	chr4:55406400-55412200	Weak transcription	Stomach Mucosa	stomach
6	chr4:55406400-55413600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:55406400-55413600	Weak transcription	Fetal Stomach	stomach
8	chr4:55406400-55420600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:55408000-55413600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:55408000-55413800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:55408200-55413600	Weak transcription	Placenta	Placenta
12	chr4:55408800-55413800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:55409000-55413200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:55409000-55413400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:55409000-55413400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:55409000-55413600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:55409000-55413600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:55409000-55413600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:55409000-55413800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:55409000-55420600	Weak transcription	Ovary	ovary
21	chr4:55409200-55413600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:55409200-55413800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:55409400-55413600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:55409600-55413600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:55409600-55413600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:55409800-55419000	Weak transcription	NHLF	lung
27	chr4:55410200-55413400	Weak transcription	K562	blood
28	chr4:55410200-55413600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:55410600-55413600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:55410800-55415400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:55411200-55413200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:55411200-55414800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:55411400-55414400	Enhancers	HMEC	breast
34	chr4:55411400-55414600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:55411600-55413600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:55411600-55414600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:55411600-55415200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:55411800-55414400	Enhancers	NHDF-Ad	bronchial
39	chr4:55411800-55417600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr4:55412000-55412600	Flanking Active TSS	NHEK	skin

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