Variant report

Variant	rs9984899
Chromosome Location	chr21:46126476-46126477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1107121	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11702093	0.84[ASN][1000 genomes]
rs2838654	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2838655	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8133996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878127	0.94[ASN][1000 genomes]
rs9978932	0.82[CHB][hapmap];0.82[ASN][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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46122800-46129400	Weak transcription	Right Atrium	heart
2	chr21:46124400-46127000	ZNF genes & repeats	Spleen	Spleen
3	chr21:46125800-46126600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:46125800-46128400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr21:46126000-46126600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
6	chr21:46126000-46126600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
7	chr21:46126000-46126800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:46126000-46126800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
9	chr21:46126000-46126800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:46126000-46127000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr21:46126000-46127000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr21:46126000-46127000	Bivalent Enhancer	Fetal Brain Male	brain
13	chr21:46126000-46127000	Bivalent Enhancer	Fetal Stomach	stomach
14	chr21:46126000-46127400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:46126000-46129000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr21:46126000-46129400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr21:46126000-46132600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr21:46126200-46126600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:46126200-46126600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
20	chr21:46126200-46126600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr21:46126200-46126600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
22	chr21:46126200-46126600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr21:46126200-46126600	Bivalent Enhancer	Fetal Lung	lung
24	chr21:46126200-46126600	ZNF genes & repeats	Pancreas	Pancrea
25	chr21:46126200-46126800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr21:46126200-46127000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr21:46126200-46127200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
28	chr21:46126200-46127400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr21:46126200-46127600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:46126200-46128600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr21:46126200-46132000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr21:46126400-46126600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr21:46126400-46126600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:46126400-46126600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
35	chr21:46126400-46126600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr21:46126400-46126600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr21:46126400-46132800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links