Variant report

Variant	rs55981088
Chromosome Location	chr11:66615012-66615013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66578008..66579538-chr11:66613591..66616038,2	MCF-7	breast:
2	chr11:66388804..66391779-chr11:66613540..66615544,2	MCF-7	breast:
3	chr11:66509825..66512726-chr11:66614692..66617335,2	K562	blood:
4	chr11:66487164..66490106-chr11:66613421..66616080,2	MCF-7	breast:
5	chr11:66613617..66615644-chr11:66790148..66791896,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173227	Chromatin interaction
ENSG00000173715	Chromatin interaction
ENSG00000173898	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12807979	1.00[ASN][1000 genomes]
rs34775878	1.00[ASN][1000 genomes]
rs35287213	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36017943	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56230646	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890450	1.00[ASN][1000 genomes]
rs61891302	1.00[ASN][1000 genomes]
rs72926941	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	nsv897795	chr11:66608521-66637926	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55981088	C11orf80	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66612000-66623000	Weak transcription	Psoas Muscle	Psoas
2	chr11:66612000-66623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:66612000-66623200	Weak transcription	Right Atrium	heart
4	chr11:66612200-66615800	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr11:66612200-66616600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:66612200-66616800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:66612200-66617200	Strong transcription	NHEK	skin
8	chr11:66612200-66617800	Strong transcription	Ovary	ovary
9	chr11:66612200-66623000	Weak transcription	Fetal Kidney	kidney
10	chr11:66612200-66623000	Weak transcription	Stomach Mucosa	stomach
11	chr11:66612200-66623000	Weak transcription	HSMM	muscle
12	chr11:66612200-66623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:66612200-66623200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:66612400-66615200	Genic enhancers	A549	lung
15	chr11:66612400-66615600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:66612400-66615800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:66612400-66616000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:66612400-66616200	Strong transcription	Colonic Mucosa	Colon
19	chr11:66612400-66616200	Strong transcription	Colon Smooth Muscle	Colon
20	chr11:66612400-66616200	Weak transcription	K562	blood
21	chr11:66612400-66616600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr11:66612400-66616800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:66612400-66617000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:66612400-66617200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:66612400-66617400	Strong transcription	Thymus	Thymus
26	chr11:66612400-66617800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:66612400-66618000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:66612400-66618000	Strong transcription	Right Ventricle	heart
29	chr11:66612400-66618400	Strong transcription	HepG2	liver
30	chr11:66612400-66623200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:66612400-66623200	Weak transcription	NH-A	brain
32	chr11:66612600-66615400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:66612600-66615400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:66612600-66615400	Strong transcription	Rectal Smooth Muscle	rectum
35	chr11:66612600-66615600	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr11:66612600-66615600	Strong transcription	Primary B cells from cord blood	blood
37	chr11:66612600-66616000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:66612600-66616000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr11:66612600-66616400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:66612600-66616400	Strong transcription	Aorta	Aorta
41	chr11:66612600-66616400	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:66612600-66616600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:66612600-66616600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:66612600-66616600	Strong transcription	Spleen	Spleen
45	chr11:66612600-66616800	Strong transcription	Lung	lung
46	chr11:66612600-66617000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr11:66612600-66617000	Strong transcription	Adipose Nuclei	Adipose
48	chr11:66612600-66617000	Strong transcription	Fetal Thymus	thymus
49	chr11:66612600-66617200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:66612600-66617400	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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