Variant report

Variant	rs11909278
Chromosome Location	chr21:45234894-45234895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45234809-45234932	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFIC	chr21:45234337-45235147	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr21:45234743-45234932	HepG2	liver:	n/a	n/a
4	POLR2A	chr21:45234478-45234962	K562	blood:	n/a	n/a
5	MAX	chr21:45234399-45234999	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr21:45234178-45234965	Hela-S3	cervix:	n/a	n/a
7	SIN3A	chr21:45234887-45234980	H1-hESC	embryonic stem cell:	n/a	n/a
8	NFIC	chr21:45234298-45235155	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr21:45234882-45235124	K562	blood:	n/a	n/a
10	POLR2A	chr21:45234046-45235191	K562	blood:	n/a	n/a
11	POLR2A	chr21:45234817-45234938	HepG2	liver:	n/a	n/a
12	EGR1	chr21:45234843-45235578	K562	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45210395..45213335-chr21:45233315..45235867,2	MCF-7	breast:
2	chr21:45233511..45236046-chr21:45357246..45359137,3	K562	blood:
3	chr21:45233392..45235627-chr21:45355114..45357134,2	K562	blood:
4	chr21:45233461..45235454-chr21:45304310..45305936,2	K562	blood:
5	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
6	chr21:45225967..45228845-chr21:45233717..45236389,2	MCF-7	breast:
7	chr21:45233322..45236346-chr21:45283499..45286249,3	K562	blood:
8	chr21:45233511..45237736-chr21:45356519..45359137,5	K562	blood:
9	chr21:45233535..45235177-chr21:45269820..45272571,2	MCF-7	breast:
10	chr21:45136618..45138870-chr21:45233345..45236189,2	MCF-7	breast:
11	chr21:45233457..45236060-chr21:45527747..45529523,2	MCF-7	breast:
12	chr21:45233056..45235969-chr21:45284211..45286371,2	MCF-7	breast:
13	chr21:45229703..45232642-chr21:45232746..45235107,4	MCF-7	breast:
14	chr21:45232650..45235289-chr21:45658982..45661573,2	MCF-7	breast:
15	chr21:45233269..45236576-chr21:45283514..45285914,3	MCF-7	breast:
16	chr21:45234318..45236275-chr21:45396629..45398423,2	MCF-7	breast:
17	chr21:45233368..45235252-chr21:45401269..45403414,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215458	TF binding region
ENSG00000215458	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000160223	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11089097	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1136072	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11909913	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11911218	0.81[AFR][1000 genomes]
rs1537118	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1537120	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17004612	0.86[ASN][1000 genomes]
rs2070538	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838364	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838373	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838380	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838385	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838391	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838400	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2838405	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28759507	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34851196	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818870	0.80[ASN][1000 genomes]
rs4819314	0.82[ASN][1000 genomes]
rs55663506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55825369	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55982230	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56177442	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs56387943	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60418573	0.83[ASN][1000 genomes]
rs62227538	0.86[EUR][1000 genomes]
rs6518321	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6518328	0.80[ASN][1000 genomes]
rs67676705	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs68106965	0.82[AMR][1000 genomes]
rs7276362	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7276547	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8128323	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8132984	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs915770	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs968578	0.81[AMR][1000 genomes]
rs9979356	0.81[AMR][1000 genomes]
rs9980220	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9984420	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	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
9	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	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
11	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	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
13	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913885	chr21:45206355-45249474	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv587718	chr21:45210932-45252838	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1065007	chr21:45212880-45257959	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv544470	chr21:45212880-45257959	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
20	nsv459292	chr21:45218440-45269841	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv587719	chr21:45218440-45269841	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv522204	chr21:45220483-45246326	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv913886	chr21:45220483-45267193	Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	esv1844567	chr21:45230974-45246326	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	nsv587720	chr21:45232322-45263920	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
26	esv19139	chr21:45232877-45241349	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
27	esv3401820	chr21:45234149-45236697	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11909278	CSTB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45211000-45257200	Weak transcription	Right Atrium	heart
2	chr21:45224800-45238400	Weak transcription	Aorta	Aorta
3	chr21:45229800-45237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:45231200-45235800	Weak transcription	Right Ventricle	heart
5	chr21:45231200-45236200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:45232200-45236200	Enhancers	Placenta	Placenta
7	chr21:45232400-45235600	Enhancers	Esophagus	oesophagus
8	chr21:45232600-45235000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:45232600-45235600	Enhancers	Colonic Mucosa	Colon
10	chr21:45232600-45236000	Enhancers	Stomach Mucosa	stomach
11	chr21:45232600-45237200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr21:45232800-45235200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr21:45232800-45236600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr21:45232800-45236600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr21:45232800-45237000	Weak transcription	Liver	Liver
16	chr21:45232800-45238400	Weak transcription	Brain Substantia Nigra	brain
17	chr21:45232800-45241400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr21:45232800-45244000	Weak transcription	Brain Angular Gyrus	brain
19	chr21:45233200-45237400	Weak transcription	Lung	lung
20	chr21:45233600-45235600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr21:45234000-45235000	Enhancers	Adipose Nuclei	Adipose
22	chr21:45234000-45235800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr21:45234200-45235000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr21:45234200-45235000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:45234200-45235000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr21:45234200-45235000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr21:45234200-45235000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:45234200-45235000	Enhancers	Ovary	ovary
29	chr21:45234200-45235000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr21:45234200-45235000	Enhancers	Spleen	Spleen
31	chr21:45234200-45235200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr21:45234200-45235600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr21:45234400-45235000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr21:45234400-45235000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:45234400-45235000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr21:45234400-45235000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr21:45234400-45235000	Enhancers	Pancreas	Pancrea
38	chr21:45234400-45235000	Flanking Active TSS	HepG2	liver
39	chr21:45234400-45235000	Enhancers	NHEK	skin
40	chr21:45234400-45237000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr21:45234600-45235000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr21:45234600-45235000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr21:45234600-45235000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr21:45234600-45235000	Enhancers	Hela-S3	cervix
45	chr21:45234600-45235200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr21:45234600-45235200	Enhancers	Gastric	stomach
47	chr21:45234600-45235200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr21:45234600-45235600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr21:45234600-45236000	Enhancers	K562	blood
50	chr21:45234600-45236400	Enhancers	Fetal Intestine Small	intestine

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