Variant report

Variant	rs2444241
Chromosome Location	chr11:120083312-120083313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:120080368-120083375	IMR90	lung:	n/a	n/a
2	UBTF	chr11:120082997-120083356	K562	blood:	n/a	n/a
3	ZBTB7A	chr11:120082983-120083451	K562	blood:	n/a	n/a
4	POLR2A	chr11:120083304-120083476	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:120083197-120083549	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
2	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:
3	chr11:120038506..120040920-chr11:120082703..120085252,3	K562	blood:

No data

Variant related genes	Relation type
OAF	TF binding region
ENSG00000176984	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1287393	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1287395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253006	0.92[EUR][1000 genomes]
rs2444242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2508495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2508496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2509623	0.92[EUR][1000 genomes]
rs2845702	0.86[EUR][1000 genomes]
rs2845708	0.97[EUR][1000 genomes]
rs2847499	0.87[EUR][1000 genomes]
rs476809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs477863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs489454	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs492275	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs513944	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs521841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs536743	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs537907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs540857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs547990	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs562966	0.97[ASN][1000 genomes]
rs896695	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3322007	chr11:120079642-120084040	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120080800-120083400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr11:120080800-120084000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:120081000-120083400	Active TSS	Gastric	stomach
4	chr11:120081000-120083400	Active TSS	NHLF	lung
5	chr11:120081000-120083600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:120081000-120083600	Active TSS	Esophagus	oesophagus
7	chr11:120081000-120083600	Active TSS	Ovary	ovary
8	chr11:120081000-120083600	Active TSS	Small Intestine	intestine
9	chr11:120081000-120084000	Active TSS	Fetal Kidney	kidney
10	chr11:120081000-120084200	Active TSS	Right Ventricle	heart
11	chr11:120081000-120084400	Active TSS	Rectal Smooth Muscle	rectum
12	chr11:120081200-120083400	Active TSS	Brain Angular Gyrus	brain
13	chr11:120081200-120083400	Active TSS	HSMM	muscle
14	chr11:120081200-120083400	Active TSS	HSMMtube	muscle
15	chr11:120081200-120083400	Active TSS	NHDF-Ad	bronchial
16	chr11:120081200-120083600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:120081200-120083600	Active TSS	Brain Anterior Caudate	brain
18	chr11:120081200-120083600	Active TSS	Fetal Stomach	stomach
19	chr11:120081200-120083800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:120081200-120083800	Active TSS	Psoas Muscle	Psoas
21	chr11:120081200-120084000	Active TSS	Fetal Intestine Large	intestine
22	chr11:120081200-120084000	Active TSS	Left Ventricle	heart
23	chr11:120081200-120084000	Active TSS	Pancreas	Pancrea
24	chr11:120081200-120084400	Active TSS	Right Atrium	heart
25	chr11:120081200-120084600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:120081400-120083400	Active TSS	Hela-S3	cervix
27	chr11:120081400-120083600	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr11:120082000-120083400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:120082000-120083800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:120082200-120083600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr11:120082200-120083600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:120082200-120083600	Flanking Active TSS	HUVEC	blood vessel
33	chr11:120082200-120084000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr11:120082200-120084000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr11:120082200-120085200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr11:120082400-120083600	Enhancers	Fetal Heart	heart
37	chr11:120082400-120083800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:120082600-120083400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:120082600-120083400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr11:120082600-120083600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:120082600-120084200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:120082600-120084400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:120082600-120084400	Active TSS	Colon Smooth Muscle	Colon
44	chr11:120082800-120083400	Active TSS	Brain Hippocampus Middle	brain
45	chr11:120082800-120083400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:120082800-120083400	Enhancers	Stomach Mucosa	stomach
47	chr11:120082800-120083400	Active TSS	Spleen	Spleen
48	chr11:120082800-120083400	Enhancers	Dnd41	blood
49	chr11:120082800-120083400	Enhancers	K562	blood
50	chr11:120082800-120083600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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