Variant report

Variant	rs12275018
Chromosome Location	chr11:87033619-87033620
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:87019923..87022315-chr11:87031348..87034093,2	K562	blood:
2	chr11:87033511..87035138-chr11:87075448..87077879,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10047408	1.00[ASW][hapmap];1.00[MEX][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235059	1.00[ASW][hapmap]
rs11235098	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235103	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235113	1.00[AMR][1000 genomes]
rs11235114	1.00[AMR][1000 genomes]
rs11235115	1.00[AMR][1000 genomes]
rs11235116	1.00[AMR][1000 genomes]
rs12270666	1.00[AMR][1000 genomes]
rs12276332	1.00[AMR][1000 genomes]
rs12281665	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs12282494	1.00[AMR][1000 genomes]
rs12283625	0.89[AFR][1000 genomes]
rs12287172	1.00[AMR][1000 genomes]
rs12287886	1.00[AMR][1000 genomes]
rs12288952	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295935	1.00[AMR][1000 genomes]
rs17150123	1.00[AMR][1000 genomes]
rs3897610	1.00[AMR][1000 genomes]
rs9804477	1.00[AMR][1000 genomes]
rs9804479	1.00[AMR][1000 genomes]
rs9804554	1.00[AMR][1000 genomes]

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	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1045057	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv541121	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv898074	chr11:86963330-87034696	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87010200-87037200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:87010600-87036800	Weak transcription	Psoas Muscle	Psoas
3	chr11:87011800-87036800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:87012000-87034200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:87012000-87040400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:87012600-87036000	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:87012600-87036400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:87012800-87044200	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:87013200-87034400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr11:87014200-87034000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:87014400-87047400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:87015600-87039800	Weak transcription	Fetal Stomach	stomach
13	chr11:87015800-87040800	Weak transcription	Left Ventricle	heart
14	chr11:87016400-87034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:87017800-87035000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:87018000-87039800	Weak transcription	Ovary	ovary
17	chr11:87018000-87040000	Weak transcription	Aorta	Aorta
18	chr11:87018000-87042800	Weak transcription	Lung	lung
19	chr11:87018200-87040800	Weak transcription	Small Intestine	intestine
20	chr11:87019800-87038000	Weak transcription	A549	lung
21	chr11:87020800-87039800	Weak transcription	HMEC	breast
22	chr11:87021600-87042400	Weak transcription	HSMMtube	muscle
23	chr11:87022000-87040600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:87024600-87034800	Weak transcription	NH-A	brain
25	chr11:87025200-87039600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:87025400-87040800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:87026400-87041000	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:87027200-87036200	Weak transcription	GM12878-XiMat	blood
29	chr11:87027600-87043800	Weak transcription	Fetal Kidney	kidney
30	chr11:87028200-87041000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:87028400-87040000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:87029000-87035000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:87029000-87035000	Strong transcription	Liver	Liver
34	chr11:87029400-87037600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:87029400-87037800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:87029600-87034600	Strong transcription	Adipose Nuclei	Adipose
37	chr11:87029600-87034800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:87030200-87033800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:87030400-87033800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:87030400-87040200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:87030600-87034000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:87030600-87034000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:87031400-87039400	Weak transcription	Esophagus	oesophagus
44	chr11:87031800-87034000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:87032200-87033800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:87032200-87033800	Strong transcription	Placenta	Placenta
47	chr11:87032200-87034400	Weak transcription	Fetal Lung	lung
48	chr11:87032400-87036400	Weak transcription	Fetal Brain Male	brain
49	chr11:87032600-87038400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:87032800-87033800	Strong transcription	Primary B cells from peripheral blood	blood

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