Variant report

Variant	rs1893561
Chromosome Location	chr21:46573721-46573722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46492313..46496810-chr21:46570892..46575986,6	K562	blood:
2	chr21:46571237..46574001-chr21:46707814..46709367,2	K562	blood:
3	chr21:46572313..46573898-chr21:46593543..46595938,2	K562	blood:
4	chr21:46572501..46575304-chr21:46707867..46709984,3	K562	blood:
5	chr21:46570712..46573836-chr21:46580844..46582723,4	K562	blood:
6	chr21:46571989..46575021-chr21:46580299..46583331,3	MCF-7	breast:
7	chr21:46572711..46575083-chr21:46683577..46685513,2	K562	blood:

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000215447	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000235374	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2104812	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2236702	0.81[AMR][1000 genomes]
rs57928018	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers 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
8	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1893561	SSR4P1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46553400-46574600	Weak transcription	Fetal Heart	heart
2	chr21:46555200-46574600	Weak transcription	Right Atrium	heart
3	chr21:46556600-46581000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr21:46557000-46604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr21:46557200-46591800	Weak transcription	HUVEC	blood vessel
6	chr21:46557400-46577800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:46557600-46582600	Weak transcription	Psoas Muscle	Psoas
8	chr21:46558600-46588800	Weak transcription	Colonic Mucosa	Colon
9	chr21:46560800-46578600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr21:46560800-46586400	Weak transcription	Liver	Liver
11	chr21:46561400-46576000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:46563000-46595600	Weak transcription	Pancreas	Pancrea
13	chr21:46563200-46576600	Weak transcription	Brain Hippocampus Middle	brain
14	chr21:46566000-46583200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr21:46568400-46581400	Weak transcription	Gastric	stomach
16	chr21:46569000-46574000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:46569000-46587000	Weak transcription	NHEK	skin
18	chr21:46570400-46582600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr21:46570600-46573800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:46570600-46575400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:46570600-46575400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr21:46570800-46575400	Enhancers	Fetal Muscle Leg	muscle
23	chr21:46571000-46574000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr21:46571000-46580000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr21:46571400-46574600	Weak transcription	HMEC	breast
26	chr21:46571400-46575200	Enhancers	Primary B cells from peripheral blood	blood
27	chr21:46571400-46576200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr21:46571600-46573800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr21:46571600-46574000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr21:46571600-46574000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr21:46571600-46575400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr21:46571600-46575400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr21:46571600-46575400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr21:46571600-46575400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr21:46571600-46575600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr21:46571600-46575600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr21:46571800-46575400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr21:46571800-46575400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr21:46571800-46576000	Weak transcription	Fetal Kidney	kidney
40	chr21:46571800-46577400	Weak transcription	Hela-S3	cervix
41	chr21:46571800-46580800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr21:46572000-46573800	Enhancers	Fetal Muscle Trunk	muscle
43	chr21:46572000-46574000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr21:46572000-46574000	Enhancers	Spleen	Spleen
45	chr21:46572000-46574600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr21:46572000-46574600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr21:46572000-46575000	Weak transcription	Left Ventricle	heart
48	chr21:46572000-46576000	Weak transcription	Fetal Lung	lung
49	chr21:46572000-46581000	Weak transcription	Fetal Brain Male	brain
50	chr21:46572000-46581200	Weak transcription	Lung	lung

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