Variant report

Variant	rs9977083
Chromosome Location	chr21:39843392-39843393
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	chr21:39752698..39755023-chr21:39842045..39843606,2	MCF-7	breast:
2	chr21:39839516..39841247-chr21:39843114..39845703,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DSCR4-16	chr21:39842698-39844003	NONHSAT082106

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1041795	0.94[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2212933	0.81[CHD][hapmap]
rs2836424	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836429	0.81[GIH][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs2836435	0.94[CEU][hapmap];0.81[CHB][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3787903	0.81[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs9978004	0.90[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][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	nsv834098	chr21:39691898-39845254	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1059340	chr21:39817504-39881353	Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39811200-39847400	Weak transcription	Right Ventricle	heart
2	chr21:39812800-39844600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr21:39836000-39844400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:39838000-39844400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr21:39839800-39843800	Weak transcription	Adipose Nuclei	Adipose
6	chr21:39839800-39844400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr21:39840000-39843600	Weak transcription	Primary B cells from cord blood	blood
8	chr21:39840000-39844200	Genic enhancers	Primary hematopoietic stem cells	blood
9	chr21:39840200-39844400	Weak transcription	Fetal Thymus	thymus
10	chr21:39840200-39846000	Weak transcription	Aorta	Aorta
11	chr21:39841000-39843800	Genic enhancers	HUVEC	blood vessel
12	chr21:39841400-39843600	Enhancers	HepG2	liver
13	chr21:39842400-39844200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr21:39842400-39844200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr21:39842400-39844200	Enhancers	NHEK	skin
16	chr21:39842600-39843400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr21:39842600-39844000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:39842600-39844200	Enhancers	HMEC	breast
19	chr21:39842600-39844600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr21:39842800-39843400	Enhancers	Esophagus	oesophagus
21	chr21:39842800-39843400	Enhancers	Left Ventricle	heart
22	chr21:39842800-39843400	Enhancers	Lung	lung
23	chr21:39842800-39843400	Enhancers	Spleen	Spleen
24	chr21:39842800-39843600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:39842800-39844200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:39842800-39844400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr21:39842800-39844600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr21:39842800-39845000	Enhancers	Right Atrium	heart
29	chr21:39843000-39843400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:39843000-39844600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr21:39843000-39844800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr21:39843200-39843400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr21:39843200-39843400	Enhancers	Fetal Muscle Leg	muscle
34	chr21:39843200-39844600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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