Variant report

Variant	rs12100288
Chromosome Location	chr13:95222690-95222691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11839030	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12100322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12100358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55664539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56730982	1.00[EUR][1000 genomes]
rs74104485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7992666	1.00[EUR][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	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv562756	chr13:95178317-95238154	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832685	chr13:95179676-95279966	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95202800-95223600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:95209400-95225000	Weak transcription	HepG2	liver
3	chr13:95209800-95223000	Weak transcription	HUVEC	blood vessel
4	chr13:95210800-95225000	Weak transcription	K562	blood
5	chr13:95211400-95223000	Weak transcription	Small Intestine	intestine
6	chr13:95211800-95224000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr13:95212200-95223600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr13:95212400-95222800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr13:95212400-95223400	Weak transcription	HSMM	muscle
10	chr13:95212600-95223600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr13:95212800-95225000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr13:95213200-95222800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:95213600-95222800	Weak transcription	Right Ventricle	heart
14	chr13:95215000-95235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:95217800-95225400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr13:95218000-95223000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr13:95218000-95223200	Weak transcription	NHEK	skin
18	chr13:95218200-95223200	Weak transcription	NHLF	lung
19	chr13:95218400-95232800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr13:95218800-95222800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:95219200-95222800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr13:95219200-95238200	Strong transcription	Primary T cells from cord blood	blood
23	chr13:95219400-95223000	Weak transcription	Brain Substantia Nigra	brain
24	chr13:95219600-95223000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr13:95219600-95237000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:95219600-95245600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:95220200-95225600	Strong transcription	Primary B cells from cord blood	blood
28	chr13:95220600-95224200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:95220600-95227800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:95220800-95223000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr13:95220800-95223400	Weak transcription	Brain Angular Gyrus	brain
32	chr13:95220800-95225600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:95220800-95226200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:95220800-95227800	Strong transcription	Thymus	Thymus
35	chr13:95220800-95229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr13:95220800-95231000	Strong transcription	Liver	Liver
37	chr13:95220800-95237000	Strong transcription	GM12878-XiMat	blood
38	chr13:95220800-95237600	Strong transcription	Fetal Intestine Large	intestine
39	chr13:95221000-95223000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:95221000-95223600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:95221000-95223600	Weak transcription	Stomach Mucosa	stomach
42	chr13:95221000-95226200	Strong transcription	Fetal Stomach	stomach
43	chr13:95221000-95237000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:95221000-95238000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr13:95221000-95240000	Strong transcription	Fetal Thymus	thymus
46	chr13:95221000-95241000	Strong transcription	Dnd41	blood
47	chr13:95221200-95223000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr13:95221200-95223000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr13:95221200-95235600	Strong transcription	Adipose Nuclei	Adipose
50	chr13:95221200-95236600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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