Variant report

Variant	rs12421312
Chromosome Location	chr11:107967556-107967557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107868894..107871210-chr11:107965734..107968580,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11212513	1.00[AMR][1000 genomes]
rs12276853	1.00[AMR][1000 genomes]
rs12284751	1.00[AMR][1000 genomes]
rs12286340	1.00[AMR][1000 genomes]
rs12290187	1.00[AMR][1000 genomes]
rs12295056	1.00[AMR][1000 genomes]
rs13377275	1.00[AMR][1000 genomes]
rs2056268	0.90[AFR][1000 genomes]
rs3847563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3858393	0.82[AFR][1000 genomes]
rs3908130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4028252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4754291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7118566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121079	0.82[AFR][1000 genomes]
rs7931791	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7935031	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7947012	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv2750980	chr11:107720941-107970986	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv3372573	chr11:107880365-108022895	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1039549	chr11:107950572-108034548	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107890800-107975200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:107902600-107974400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:107908400-107980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:107928200-107985200	Weak transcription	Psoas Muscle	Psoas
5	chr11:107938400-107968200	Weak transcription	Hela-S3	cervix
6	chr11:107941000-107971800	Weak transcription	NHEK	skin
7	chr11:107946200-107971200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:107946600-107986000	Weak transcription	Brain Angular Gyrus	brain
9	chr11:107953200-107991600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:107953400-107972000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:107953600-107986000	Weak transcription	Pancreas	Pancrea
12	chr11:107954000-107967800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:107954200-107967800	Weak transcription	HepG2	liver
14	chr11:107954800-107972200	Weak transcription	Aorta	Aorta
15	chr11:107955200-107972000	Weak transcription	Gastric	stomach
16	chr11:107955800-107991800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:107956000-107971800	Weak transcription	Fetal Kidney	kidney
18	chr11:107958400-107977200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:107958600-107978200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:107958800-107980400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:107959000-107970800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:107959000-107976600	Strong transcription	Fetal Thymus	thymus
23	chr11:107959000-107977000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:107959200-107977000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:107959200-107977800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:107960000-107977000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:107960200-107968000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:107960400-107968200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:107961400-107977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:107961600-107976800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr11:107962000-107970600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:107962200-107969000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:107962200-107974400	Strong transcription	Dnd41	blood
34	chr11:107962200-107977000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:107962400-107970800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:107962600-107972000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:107962600-107972000	Weak transcription	Lung	lung
38	chr11:107962600-107972200	Weak transcription	Right Ventricle	heart
39	chr11:107962800-107971000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:107962800-107977600	Weak transcription	Esophagus	oesophagus
41	chr11:107963400-107971600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:107963600-107975400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:107963800-107975400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:107964000-107976800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:107964000-107977200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:107964000-107978600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:107964400-107971800	Weak transcription	Fetal Heart	heart
48	chr11:107964400-107972400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr11:107964600-107978000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:107964800-107969200	Strong transcription	HSMM	muscle

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