Variant report

Variant	rs72989220
Chromosome Location	chr11:73498094-73498095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:73497877-73498221	K562	blood:	n/a	n/a
2	NR2F2	chr11:73497811-73499497	K562	blood:	n/a	n/a
3	POLR2A	chr11:73498064-73499586	HCT-116	colon:	n/a	n/a
4	MXI1	chr11:73497796-73500876	SK-N-SH	brain:	n/a	n/a
5	GTF3C2	chr11:73497951-73498940	Hela-S3	cervix:	n/a	n/a
6	RFX5	chr11:73497830-73498247	K562	blood:	n/a	n/a
7	POLR2A	chr11:73497787-73499438	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73470211..73473572-chr11:73496692..73501846,8	MCF-7	breast:
2	chr11:73453380..73456038-chr11:73496235..73498225,2	K562	blood:
3	chr11:73496600..73498927-chr11:73587563..73589388,3	MCF-7	breast:
4	chr11:73470660..73473982-chr11:73497982..73500813,6	MCF-7	breast:
5	chr11:73469206..73473775-chr11:73494297..73499248,5	K562	blood:
6	chr11:73497934..73501442-chr11:73586433..73589232,4	K562	blood:
7	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:
8	chr11:73497415..73503223-chr11:73585602..73589591,8	K562	blood:
9	chr11:73497005..73500757-chr11:73586552..73589226,3	MCF-7	breast:
10	chr11:73497833..73499954-chr17:57783291..57785568,2	MCF-7	breast:

No data

Variant related genes	Relation type
MRPL48	TF binding region
ENSG00000181924	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000141378	Chromatin interaction
ENSG00000175582	Chromatin interaction
ENSG00000256034	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11235911	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235918	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235928	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11235951	0.81[EUR][1000 genomes]
rs11534587	0.81[EUR][1000 genomes]
rs12225286	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12277859	0.83[ASN][1000 genomes]
rs1474417	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1670536	0.92[ASN][1000 genomes]
rs1792163	0.92[ASN][1000 genomes]
rs3758932	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3758933	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56307666	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5792633	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57974546	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59187119	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60280069	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66465726	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7104794	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7125433	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7130191	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71479547	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs72976851	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72976884	0.92[ASN][1000 genomes]
rs72989216	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72989224	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72989263	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7924705	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927396	0.82[EUR][1000 genomes]
rs7931143	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7937366	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666165	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73491000-73498400	Weak transcription	Esophagus	oesophagus
2	chr11:73491000-73498600	Weak transcription	Aorta	Aorta
3	chr11:73491200-73498200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:73491200-73498200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:73491200-73498400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:73491200-73498400	Weak transcription	Thymus	Thymus
7	chr11:73491200-73498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:73491400-73498200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:73491400-73498200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:73491400-73498200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:73491400-73498200	Weak transcription	Adipose Nuclei	Adipose
12	chr11:73491400-73498400	Weak transcription	Primary T cells from cord blood	blood
13	chr11:73491400-73498400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:73495400-73498200	Weak transcription	Fetal Intestine Small	intestine
15	chr11:73495400-73498400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:73495600-73498200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:73495600-73498200	Weak transcription	Fetal Intestine Large	intestine
18	chr11:73495600-73498400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:73495600-73498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:73495600-73498400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:73495800-73498200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:73496000-73498200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:73496000-73498400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:73496000-73498400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:73496200-73498600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:73496400-73498400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:73496600-73498200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:73496600-73498200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:73496600-73498400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:73497200-73498400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:73497800-73498200	Enhancers	Liver	Liver
32	chr11:73497800-73498200	Enhancers	Brain Anterior Caudate	brain
33	chr11:73497800-73498200	Flanking Active TSS	K562	blood
34	chr11:73497800-73498200	Enhancers	NHEK	skin
35	chr11:73497800-73498400	Flanking Active TSS	Hela-S3	cervix
36	chr11:73497800-73498800	Flanking Active TSS	Dnd41	blood
37	chr11:73498000-73498200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr11:73498000-73498200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr11:73498000-73498200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:73498000-73498200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:73498000-73498200	Enhancers	Brain Angular Gyrus	brain
42	chr11:73498000-73498200	Enhancers	Brain Hippocampus Middle	brain
43	chr11:73498000-73498200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:73498000-73498200	Weak transcription	Fetal Lung	lung
45	chr11:73498000-73498200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr11:73498000-73498200	Flanking Active TSS	A549	lung
47	chr11:73498000-73498200	Flanking Active TSS	HMEC	breast
48	chr11:73498000-73498200	Enhancers	HSMM	muscle
49	chr11:73498000-73498400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:73498000-73498400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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