Variant report

Variant	rs743468
Chromosome Location	chr21:45359587-45359588
allele	A/G
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45357331..45359894-chr21:45430362..45432544,2	MCF-7	breast:
2	chr21:45335675..45337724-chr21:45358357..45360411,2	K562	blood:
3	chr21:45279077..45280867-chr21:45358882..45361761,2	K562	blood:
4	chr21:45146056..45148886-chr21:45358473..45360554,2	K562	blood:
5	chr21:45340527..45345737-chr21:45352879..45360873,10	K562	blood:
6	chr21:45350315..45351023-chr21:45358995..45360019,3	MCF-7	breast:
7	chr21:45281403..45288287-chr21:45354667..45363125,18	K562	blood:
8	chr21:45229945..45231680-chr21:45358482..45359730,15	MCF-7	breast:
9	chr21:45230314..45231521-chr21:45358032..45359692,17	K562	blood:
10	chr21:45280145..45280762-chr21:45359058..45359617,2	MCF-7	breast:
11	chr21:45284305..45287858-chr21:45357058..45361735,4	MCF-7	breast:
12	chr21:45348204..45349934-chr21:45358596..45359626,8	MCF-7	breast:
13	chr21:45235244..45235830-chr21:45358693..45359650,3	K562	blood:
14	chr20:52815882..52816401-chr21:45359058..45359696,2	MCF-7	breast:
15	chr21:45301296..45303412-chr21:45359569..45361087,2	MCF-7	breast:
16	chr21:45313485..45315403-chr21:45358568..45360519,2	K562	blood:
17	chr21:45358391..45361361-chr21:45366953..45369647,2	MCF-7	breast:
18	chr21:45223833..45232004-chr21:45356708..45361221,12	K562	blood:
19	chr21:45303695..45304459-chr21:45359035..45359612,2	MCF-7	breast:
20	chr21:45195046..45197218-chr21:45357463..45360101,2	K562	blood:
21	chr21:45358600..45359641-chr21:45394697..45395938,6	MCF-7	breast:
22	chr21:45249286..45250425-chr21:45358859..45359776,4	MCF-7	breast:
23	chr21:45285861..45287868-chr21:45358752..45361142,2	K562	blood:
24	chr21:45284172..45286088-chr21:45358616..45359646,7	MCF-7	breast:
25	chr21:45352880..45356983-chr21:45357815..45359696,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160213	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11911486	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838445	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838446	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6518339	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8131328	0.94[ASN][1000 genomes]
rs8134506	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1055772	chr21:45353436-45373304	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45343000-45372400	Weak transcription	Small Intestine	intestine
2	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr21:45348400-45363800	Weak transcription	Aorta	Aorta
4	chr21:45350400-45364000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:45352400-45368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr21:45353600-45366600	Weak transcription	Fetal Brain Female	brain
7	chr21:45358400-45359600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr21:45358400-45360800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr21:45358600-45359600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:45358600-45359600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr21:45358600-45359600	Enhancers	Colon Smooth Muscle	Colon
12	chr21:45358600-45359800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr21:45358600-45360000	Strong transcription	Dnd41	blood
14	chr21:45358600-45360800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr21:45358800-45359600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr21:45358800-45359600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr21:45359000-45359600	Enhancers	Brain Cingulate Gyrus	brain
18	chr21:45359000-45359600	Enhancers	Fetal Muscle Trunk	muscle
19	chr21:45359000-45359600	Enhancers	Gastric	stomach
20	chr21:45359000-45359600	Weak transcription	Lung	lung
21	chr21:45359000-45359800	Strong transcription	NHLF	lung
22	chr21:45359000-45360000	Weak transcription	Psoas Muscle	Psoas
23	chr21:45359000-45360200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:45359000-45361800	Weak transcription	Primary B cells from cord blood	blood
25	chr21:45359000-45363800	Weak transcription	Fetal Lung	lung
26	chr21:45359000-45364000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:45359000-45364000	Weak transcription	Brain Substantia Nigra	brain
28	chr21:45359000-45368800	Weak transcription	Brain Angular Gyrus	brain
29	chr21:45359000-45369200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr21:45359000-45369200	Weak transcription	Brain Germinal Matrix	brain
31	chr21:45359000-45371400	Weak transcription	HSMMtube	muscle
32	chr21:45359200-45359600	Enhancers	Primary B cells from peripheral blood	blood
33	chr21:45359200-45359600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr21:45359200-45359600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr21:45359200-45359600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr21:45359200-45359600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr21:45359200-45359600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr21:45359200-45359600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:45359200-45359600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr21:45359200-45359600	Enhancers	Adipose Nuclei	Adipose
41	chr21:45359200-45359600	Enhancers	Brain Anterior Caudate	brain
42	chr21:45359200-45359600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr21:45359200-45359600	Enhancers	Pancreas	Pancrea
44	chr21:45359200-45359600	Enhancers	Right Ventricle	heart
45	chr21:45359200-45359600	Flanking Active TSS	HepG2	liver
46	chr21:45359200-45359600	Enhancers	HMEC	breast
47	chr21:45359200-45359600	Genic enhancers	Monocytes-CD14+_RO01746	blood
48	chr21:45359200-45359800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr21:45359200-45359800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr21:45359200-45359800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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