Variant report

Variant	rs743498
Chromosome Location	chr21:46126334-46126335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46123174..46125281-chr21:46125754..46127602,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17286075	1.00[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:44 , 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	chr21:46126000-46126400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
6	chr21:46126000-46126600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
7	chr21:46126000-46126600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr21:46126000-46126800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr21:46126000-46126800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
10	chr21:46126000-46126800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr21:46126000-46127000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
12	chr21:46126000-46127000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr21:46126000-46127000	Bivalent Enhancer	Fetal Brain Male	brain
14	chr21:46126000-46127000	Bivalent Enhancer	Fetal Stomach	stomach
15	chr21:46126000-46127400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:46126000-46129000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr21:46126000-46129400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr21:46126000-46132600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr21:46126200-46126400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:46126200-46126400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:46126200-46126400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
22	chr21:46126200-46126400	Bivalent Enhancer	Liver	Liver
23	chr21:46126200-46126400	Bivalent Enhancer	Brain Angular Gyrus	brain
24	chr21:46126200-46126400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
25	chr21:46126200-46126400	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
26	chr21:46126200-46126400	Bivalent Enhancer	Colonic Mucosa	Colon
27	chr21:46126200-46126400	Bivalent Enhancer	Fetal Brain Female	brain
28	chr21:46126200-46126400	ZNF genes & repeats	Gastric	stomach
29	chr21:46126200-46126400	Bivalent Enhancer	Left Ventricle	heart
30	chr21:46126200-46126400	Flanking Bivalent TSS/Enh	Lung	lung
31	chr21:46126200-46126600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:46126200-46126600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
33	chr21:46126200-46126600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr21:46126200-46126600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
35	chr21:46126200-46126600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr21:46126200-46126600	Bivalent Enhancer	Fetal Lung	lung
37	chr21:46126200-46126600	ZNF genes & repeats	Pancreas	Pancrea
38	chr21:46126200-46126800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr21:46126200-46127000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr21:46126200-46127200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
41	chr21:46126200-46127400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr21:46126200-46127600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr21:46126200-46128600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr21:46126200-46132000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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