Variant report

Variant	rs1478105
Chromosome Location	chr21:27864057-27864058
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	chr21:27861488..27864858-chr21:27865688..27868748,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12627243	0.82[CEU][hapmap];0.83[LWK][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap]
rs2830244	1.00[ASW][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2830248	0.92[ASN][1000 genomes]
rs2830259	0.87[CHB][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2830261	0.81[CEU][hapmap];0.92[CHD][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs2830262	0.89[CEU][hapmap];0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056506	chr21:27332898-28049880	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv544412	chr21:27332898-28049880	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv587335	chr21:27715263-27955385	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv913660	chr21:27815652-27869676	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv587336	chr21:27849346-27865978	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	esv1844181	chr21:27854701-27879342	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27843400-27878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr21:27852600-27867600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr21:27852800-27871400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr21:27862400-27864400	Weak transcription	Aorta	Aorta
5	chr21:27862600-27878800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:27862800-27864400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:27862800-27864400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:27862800-27865200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr21:27863000-27864200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:27863000-27864200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr21:27863000-27864200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:27863000-27864200	Enhancers	Fetal Kidney	kidney
13	chr21:27863000-27864400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr21:27863000-27864400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr21:27863000-27865400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr21:27863200-27864200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr21:27863200-27864400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:27863400-27864400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr21:27863400-27864400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:27863400-27877600	Weak transcription	Fetal Lung	lung
21	chr21:27863600-27864200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr21:27863800-27864400	Enhancers	NHEK	skin
23	chr21:27864000-27864200	Genic enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr21:27864000-27864400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:27864000-27864600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr21:27864000-27864800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links