Variant report

Variant	rs11538048
Chromosome Location	chr11:66613395-66613396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66495041..66496665-chr11:66610806..66613641,2	K562	blood:
2	chr11:66610287..66613457-chr11:66821215..66824724,5	MCF-7	breast:
3	chr11:66612074..66613943-chr11:66749013..66751834,2	MCF-7	breast:
4	chr11:66611767..66613930-chr11:66642493..66645277,2	MCF-7	breast:
5	chr11:66609696..66614934-chr11:66722798..66726985,5	K562	blood:
6	chr11:66516509..66519400-chr11:66611915..66614317,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173156	Chromatin interaction
ENSG00000173898	Chromatin interaction
ENSG00000173599	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55962689	1.00[AMR][1000 genomes]
rs56049904	1.00[AMR][1000 genomes]
rs56194916	1.00[AMR][1000 genomes]
rs56705397	1.00[AMR][1000 genomes]
rs56728386	1.00[AMR][1000 genomes]
rs56790408	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57237794	1.00[AMR][1000 genomes]
rs57241231	1.00[AMR][1000 genomes]
rs57508396	1.00[AMR][1000 genomes]
rs57550064	1.00[AMR][1000 genomes]
rs57630565	1.00[AMR][1000 genomes]
rs58201175	1.00[AMR][1000 genomes]
rs59057733	1.00[AMR][1000 genomes]
rs59663951	1.00[AMR][1000 genomes]
rs59868470	1.00[AMR][1000 genomes]
rs60523317	1.00[AMR][1000 genomes]
rs61675228	1.00[AMR][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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66612000-66613600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:66612000-66613600	Genic enhancers	Fetal Muscle Trunk	muscle
3	chr11:66612000-66614600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:66612000-66623000	Weak transcription	Psoas Muscle	Psoas
5	chr11:66612000-66623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:66612000-66623200	Weak transcription	Right Atrium	heart
7	chr11:66612200-66613800	Genic enhancers	Fetal Stomach	stomach
8	chr11:66612200-66614000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:66612200-66614000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:66612200-66614800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:66612200-66615800	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr11:66612200-66616600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:66612200-66616800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:66612200-66617200	Strong transcription	NHEK	skin
15	chr11:66612200-66617800	Strong transcription	Ovary	ovary
16	chr11:66612200-66623000	Weak transcription	Fetal Kidney	kidney
17	chr11:66612200-66623000	Weak transcription	Stomach Mucosa	stomach
18	chr11:66612200-66623000	Weak transcription	HSMM	muscle
19	chr11:66612200-66623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:66612200-66623200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:66612400-66613400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:66612400-66613400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:66612400-66613400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:66612400-66613400	Strong transcription	Fetal Lung	lung
25	chr11:66612400-66613600	Strong transcription	NHDF-Ad	bronchial
26	chr11:66612400-66614000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:66612400-66614400	Strong transcription	Osteobl	bone
28	chr11:66612400-66615200	Genic enhancers	A549	lung
29	chr11:66612400-66615600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:66612400-66615800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:66612400-66616000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:66612400-66616200	Strong transcription	Colonic Mucosa	Colon
33	chr11:66612400-66616200	Strong transcription	Colon Smooth Muscle	Colon
34	chr11:66612400-66616200	Weak transcription	K562	blood
35	chr11:66612400-66616600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr11:66612400-66616800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:66612400-66617000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr11:66612400-66617200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:66612400-66617400	Strong transcription	Thymus	Thymus
40	chr11:66612400-66617800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:66612400-66618000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:66612400-66618000	Strong transcription	Right Ventricle	heart
43	chr11:66612400-66618400	Strong transcription	HepG2	liver
44	chr11:66612400-66623200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:66612400-66623200	Weak transcription	NH-A	brain
46	chr11:66612600-66613400	Strong transcription	HUVEC	blood vessel
47	chr11:66612600-66613800	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr11:66612600-66614000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:66612600-66614000	Strong transcription	NHLF	lung
50	chr11:66612600-66614200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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