Variant report

Variant	rs17148080
Chromosome Location	chr11:66936815-66936816
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66926847..66929328-chr11:66934758..66937261,2	K562	blood:
2	chr11:66929013..66930830-chr11:66934659..66937303,2	MCF-7	breast:
3	chr11:66933281..66937072-chr11:67006310..67009809,4	K562	blood:
4	chr11:66930023..66932870-chr11:66933678..66937134,5	MCF-7	breast:
5	chr11:66935315..66937886-chr11:66960341..66962515,2	K562	blood:

Variant related genes	Relation type
ENSG00000173120	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12417116	0.80[AMR][1000 genomes]
rs12417770	0.82[AMR][1000 genomes]
rs12417887	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12418407	1.00[JPT][hapmap]
rs12418591	1.00[EUR][1000 genomes]
rs12419315	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12420479	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12420556	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12420594	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420763	1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12421018	0.80[AMR][1000 genomes]
rs12421536	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1573536	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs1574103	1.00[JPT][hapmap]
rs17148183	1.00[JPT][hapmap]
rs3730140	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4084238	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930411	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930415	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930416	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58815002	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61525626	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61731786	0.82[AMR][1000 genomes]
rs61758493	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61759803	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61759806	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7396248	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs885833	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs887315	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66905600-66950400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:66907800-66953000	Weak transcription	Aorta	Aorta
3	chr11:66907800-66975000	Weak transcription	Pancreas	Pancrea
4	chr11:66918600-66947200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:66918800-66947400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:66918800-66968000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:66919400-66947200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:66919600-66950400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:66919800-66947200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:66919800-66947400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:66919800-66947400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:66919800-66949600	Weak transcription	Lung	lung
13	chr11:66920000-66947600	Weak transcription	Right Ventricle	heart
14	chr11:66920400-66947200	Weak transcription	Placenta	Placenta
15	chr11:66920400-66947400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:66920800-66941200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:66920800-66949200	Weak transcription	Fetal Kidney	kidney
18	chr11:66921200-66945200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:66921200-66946800	Weak transcription	Ovary	ovary
20	chr11:66922000-66938000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:66922600-66947200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:66923000-66940800	Weak transcription	Fetal Stomach	stomach
23	chr11:66923000-66947400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:66923200-66947400	Weak transcription	Thymus	Thymus
25	chr11:66925800-66945200	Weak transcription	Fetal Lung	lung
26	chr11:66926000-66950400	Weak transcription	Brain Germinal Matrix	brain
27	chr11:66926000-66966800	Weak transcription	Brain Angular Gyrus	brain
28	chr11:66926200-66948400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:66926200-66963800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:66927600-66942000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:66927800-66942200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:66928000-66938600	Weak transcription	Primary B cells from cord blood	blood
33	chr11:66928600-66945000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:66929000-66942400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:66929000-66947600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:66929200-66938200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:66929400-66942000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:66929600-66941800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:66929600-66947200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:66929800-66942200	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:66930600-66947400	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:66930800-66939000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr11:66930800-66985600	Weak transcription	Small Intestine	intestine
44	chr11:66931000-66938200	Weak transcription	Primary T cells from cord blood	blood
45	chr11:66932200-66938400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:66932400-66938200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:66932400-66945200	Weak transcription	Fetal Intestine Large	intestine
48	chr11:66932400-66947200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:66932600-66938200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:66932600-66947000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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