Variant report

Variant	rs521841
Chromosome Location	chr11:120080526-120080527
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	MXI1	chr11:120080275-120082746	IMR90	lung:	n/a	chr11:120081821-120081830
3	MAX	chr11:120080447-120082622	NB4	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
4	GTF2F1	chr11:120080493-120080557	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120054593..120056417-chr11:120079805..120082698,2	K562	blood:
2	chr11:120061784..120063825-chr11:120078138..120080529,2	K562	blood:
3	chr11:120066886..120069148-chr11:120079541..120081080,2	K562	blood:
4	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:
5	chr11:120078701..120081046-chr11:120081423..120083396,2	K562	blood:

Variant related genes	Relation type
OAF	TF binding region
ENSG00000137699	Chromatin interaction
ENSG00000184232	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1287393	0.85[CEU][hapmap];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];0.99[ASN][1000 genomes]
rs2253006	0.92[EUR][1000 genomes]
rs2444241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444242	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508496	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509623	0.83[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs2845702	0.86[EUR][1000 genomes]
rs2845708	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2847499	0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs3225	0.92[CEU][hapmap]
rs470876	0.83[CEU][hapmap]
rs476809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs477863	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489454	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs492275	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs513944	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs533636	0.83[CEU][hapmap]
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];0.99[ASN][1000 genomes]
rs540857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547990	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562966	0.98[ASN][1000 genomes]
rs580174	0.92[CEU][hapmap]
rs692804	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs896695	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9655	0.92[CEU][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3325819	chr11:120080267-120083115	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription 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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120075200-120081000	Enhancers	Pancreas	Pancrea
2	chr11:120076200-120080600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:120076200-120080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:120076600-120080600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:120077000-120080600	Enhancers	Fetal Stomach	stomach
6	chr11:120077000-120080800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:120078000-120081200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:120078200-120080800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:120078200-120080800	Enhancers	Spleen	Spleen
10	chr11:120078400-120080600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:120078400-120080600	Enhancers	Adipose Nuclei	Adipose
12	chr11:120078400-120080600	Enhancers	Brain Anterior Caudate	brain
13	chr11:120078400-120080600	Enhancers	Brain Hippocampus Middle	brain
14	chr11:120078400-120080600	Enhancers	Colonic Mucosa	Colon
15	chr11:120078400-120080600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr11:120078400-120080600	Enhancers	NHDF-Ad	bronchial
17	chr11:120078400-120080800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:120078400-120080800	Enhancers	Brain Angular Gyrus	brain
19	chr11:120078400-120080800	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:120078400-120080800	Enhancers	Fetal Intestine Small	intestine
21	chr11:120078400-120080800	Enhancers	Fetal Muscle Trunk	muscle
22	chr11:120078400-120080800	Enhancers	Ovary	ovary
23	chr11:120078400-120081000	Enhancers	Esophagus	oesophagus
24	chr11:120078400-120081000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:120078400-120081000	Enhancers	Small Intestine	intestine
26	chr11:120078600-120080600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:120078600-120080600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:120078600-120080600	Enhancers	Duodenum Mucosa	Duodenum
29	chr11:120078600-120080600	Enhancers	Hela-S3	cervix
30	chr11:120078600-120080800	Enhancers	Right Atrium	heart
31	chr11:120078600-120081000	Enhancers	HMEC	breast
32	chr11:120078600-120081000	Enhancers	HUVEC	blood vessel
33	chr11:120078800-120080600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:120078800-120080600	Enhancers	NHLF	lung
35	chr11:120078800-120080800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:120078800-120080800	Enhancers	Placenta	Placenta
37	chr11:120078800-120080800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:120078800-120080800	Enhancers	HSMM	muscle
39	chr11:120079000-120080600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:120079000-120080600	Weak transcription	Lung	lung
41	chr11:120079000-120080800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:120079200-120080800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr11:120079200-120080800	Enhancers	NHEK	skin
44	chr11:120079400-120080600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:120079400-120080600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:120079400-120080600	Enhancers	Fetal Intestine Large	intestine
47	chr11:120079400-120080600	Weak transcription	Fetal Kidney	kidney
48	chr11:120079400-120080800	Enhancers	NH-A	brain
49	chr11:120079600-120080600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:120079800-120080600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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