Variant report

Variant	rs427943
Chromosome Location	chr21:46570896-46570897
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46558139..46559799-chr21:46568659..46571204,2	K562	blood:
2	chr21:46492313..46496810-chr21:46570892..46575986,6	K562	blood:
3	chr21:46570712..46573836-chr21:46580844..46582723,4	K562	blood:
4	chr21:46550409..46551930-chr21:46569679..46571872,2	MCF-7	breast:
5	chr21:46565809..46567896-chr21:46568850..46571602,3	K562	blood:
6	chr21:46564488..46569324-chr21:46569592..46573280,6	K562	blood:
7	chr21:46557269..46559639-chr21:46569704..46571719,2	K562	blood:
8	chr21:46568222..46571094-chr21:46923291..46926042,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268856	Chromatin interaction
ENSG00000173638	Chromatin interaction
ENSG00000182871	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11088982	0.83[CEU][hapmap]
rs11088983	0.83[CEU][hapmap]
rs12185823	0.85[CEU][hapmap]
rs13047803	0.85[CEU][hapmap]
rs1537122	0.96[CHB][hapmap];0.91[JPT][hapmap]
rs1537123	0.81[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs1556317	0.81[CEU][hapmap]
rs2225434	0.96[CHB][hapmap];0.86[JPT][hapmap]
rs2246081	0.85[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs2838791	0.81[CEU][hapmap]
rs2838797	0.84[CEU][hapmap]
rs2838799	0.80[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2838800	0.81[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs2838803	0.81[CEU][hapmap]
rs2838806	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2838807	0.84[CEU][hapmap]
rs2838813	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2838815	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs367986	0.81[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap]
rs372519	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs373037	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs377902	0.85[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs3788183	0.96[CHB][hapmap];0.91[JPT][hapmap]
rs394608	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs395761	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs397092	0.89[CEU][hapmap]
rs400997	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs403694	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs407133	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs412646	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs421716	0.85[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs4818766	0.96[CHB][hapmap];0.91[JPT][hapmap]
rs4819030	0.85[CEU][hapmap]
rs4819031	0.84[CEU][hapmap]
rs7281416	0.81[CEU][hapmap]
rs8128889	0.82[CEU][hapmap]
rs8130224	0.82[CEU][hapmap]
rs8133307	0.80[CEU][hapmap]
rs8134789	0.84[CEU][hapmap]
rs983749	0.82[CEU][hapmap]
rs984791	0.81[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]

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	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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46548600-46571600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr21:46550400-46571200	Weak transcription	Brain Germinal Matrix	brain
3	chr21:46553400-46574600	Weak transcription	Fetal Heart	heart
4	chr21:46555200-46574600	Weak transcription	Right Atrium	heart
5	chr21:46555600-46571600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr21:46555800-46571600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr21:46556600-46581000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr21:46557000-46571400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr21:46557000-46604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr21:46557200-46591800	Weak transcription	HUVEC	blood vessel
11	chr21:46557400-46571600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr21:46557400-46577800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:46557600-46573400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr21:46557600-46582600	Weak transcription	Psoas Muscle	Psoas
15	chr21:46558600-46571400	Weak transcription	Colon Smooth Muscle	Colon
16	chr21:46558600-46588800	Weak transcription	Colonic Mucosa	Colon
17	chr21:46558800-46571800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr21:46558800-46571800	Weak transcription	Fetal Intestine Large	intestine
19	chr21:46560800-46578600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr21:46560800-46586400	Weak transcription	Liver	Liver
21	chr21:46561200-46571600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr21:46561400-46571600	Weak transcription	Thymus	Thymus
23	chr21:46561400-46576000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:46562800-46571400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr21:46562800-46572600	Weak transcription	Brain Anterior Caudate	brain
26	chr21:46563000-46595600	Weak transcription	Pancreas	Pancrea
27	chr21:46563200-46571600	Weak transcription	NH-A	brain
28	chr21:46563200-46576600	Weak transcription	Brain Hippocampus Middle	brain
29	chr21:46563600-46571600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr21:46563800-46571000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr21:46565200-46571600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr21:46565800-46571800	Weak transcription	Fetal Intestine Small	intestine
33	chr21:46566000-46571600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr21:46566000-46571600	Weak transcription	Left Ventricle	heart
35	chr21:46566000-46573200	Weak transcription	Osteobl	bone
36	chr21:46566000-46583200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr21:46566200-46571600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr21:46566800-46571000	Weak transcription	Adipose Nuclei	Adipose
39	chr21:46567000-46571000	Weak transcription	Fetal Thymus	thymus
40	chr21:46567200-46571600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr21:46567200-46573200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr21:46568000-46571600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr21:46568200-46571600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr21:46568200-46572000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr21:46568200-46572200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr21:46568400-46571400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr21:46568400-46571800	Weak transcription	Right Ventricle	heart
48	chr21:46568400-46573600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr21:46568400-46581400	Weak transcription	Gastric	stomach
50	chr21:46568600-46571000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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