Variant report

Variant	rs58221849
Chromosome Location	chr11:66100695-66100696
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:66100539-66100848	K562	blood:	n/a	n/a
2	CTCF	chr11:66100588-66100807	K562	blood:	n/a	n/a
3	CTCF	chr11:66100680-66100830	K562	blood:	n/a	n/a
4	CTCF	chr11:66100671-66100817	K562	blood:	n/a	n/a
5	CTCF	chr11:66100686-66100793	K562	blood:	n/a	n/a
6	CTCF	chr11:66100675-66100829	GM12892	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66045260..66048745-chr11:66100560..66104011,3	K562	blood:
2	chr11:66079593..66081996-chr11:66098555..66100788,2	K562	blood:
3	chr11:66096036..66100735-chr11:66109250..66113337,6	K562	blood:
4	chr11:66054900..66056693-chr11:66099016..66101180,2	K562	blood:
5	chr11:66053447..66056540-chr11:66100445..66105768,7	MCF-7	breast:
6	chr11:66099391..66101951-chr11:66136865..66139271,2	K562	blood:
7	chr11:66099391..66103232-chr11:66136865..66139271,3	K562	blood:
8	chr11:66078237..66081093-chr11:66098609..66103641,6	K562	blood:
9	chr11:65623324..65625591-chr11:66098179..66100735,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254756	TF binding region
ENSG00000174851	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000245156	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000254458	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11537930	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1190621	0.95[EUR][1000 genomes]
rs1190622	0.89[EUR][1000 genomes]
rs1190623	0.95[EUR][1000 genomes]
rs1212135	0.94[EUR][1000 genomes]
rs2016960	0.95[EUR][1000 genomes]
rs3016311	0.95[EUR][1000 genomes]
rs3016316	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3016317	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3814740	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56240803	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57004348	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59651473	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7950463	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs948360	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh 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	91 gene(s)	inside rSNPs	diseases
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv1813137	chr11:66098322-66106725	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
9	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	esv1850142	chr11:66099494-66105817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs58221849	RIN1	cis	Whole Blood	GTEx
rs58221849	RP11-867G23.12	cis	Whole Blood	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66084600-66103200	Weak transcription	Small Intestine	intestine
2	chr11:66093200-66102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66094400-66102800	Weak transcription	Psoas Muscle	Psoas
4	chr11:66095000-66102800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:66095800-66100800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:66096400-66101000	Weak transcription	Brain Angular Gyrus	brain
7	chr11:66096400-66101600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:66096400-66102400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:66096400-66102400	Weak transcription	HSMM	muscle
10	chr11:66096400-66102600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:66096400-66102600	Weak transcription	HSMMtube	muscle
12	chr11:66096400-66102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:66096400-66102800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:66096400-66102800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:66096400-66102800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:66096400-66102800	Weak transcription	Left Ventricle	heart
17	chr11:66096400-66102800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:66096400-66102800	Weak transcription	Right Atrium	heart
19	chr11:66096400-66103000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:66096400-66103000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:66096400-66104400	Weak transcription	Dnd41	blood
22	chr11:66096600-66101800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:66096600-66102400	Weak transcription	Stomach Mucosa	stomach
24	chr11:66096600-66102400	Weak transcription	A549	lung
25	chr11:66096600-66102600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:66096600-66102800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:66096600-66102800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:66096600-66102800	Weak transcription	Fetal Lung	lung
29	chr11:66096600-66103000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:66097000-66102400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:66097600-66102600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr11:66098000-66103400	Weak transcription	Aorta	Aorta
33	chr11:66098400-66101200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:66098400-66102800	Weak transcription	K562	blood
35	chr11:66098400-66108800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:66098600-66101600	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:66098600-66102400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:66098800-66101000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:66098800-66101000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:66098800-66101000	Strong transcription	NHEK	skin
41	chr11:66098800-66101400	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr11:66098800-66101800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr11:66098800-66101800	Strong transcription	Osteobl	bone
44	chr11:66098800-66102000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr11:66098800-66102000	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr11:66099000-66101000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:66099000-66101000	Strong transcription	HMEC	breast
48	chr11:66099000-66101000	Strong transcription	NH-A	brain
49	chr11:66099000-66101200	Strong transcription	NHDF-Ad	bronchial
50	chr11:66099000-66101400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links