Variant report

Variant	rs61394964
Chromosome Location	chr12:104275008-104275009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104272930..104275342-chr12:104282013..104284611,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2374286	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4135041	0.91[AFR][1000 genomes]
rs4135051	0.91[AFR][1000 genomes]
rs58470973	1.00[AMR][1000 genomes]
rs73386107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv977145	chr12:104273790-104283207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104254800-104278200	Weak transcription	Aorta	Aorta
2	chr12:104271800-104275600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:104272200-104276800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:104272200-104278200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:104272400-104275800	Enhancers	Primary hematopoietic stem cells	blood
6	chr12:104272800-104275200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:104273200-104277400	Enhancers	HMEC	breast
8	chr12:104273400-104277200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:104273400-104277600	Enhancers	NHEK	skin
10	chr12:104273600-104275400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:104273800-104275400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:104273800-104277200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:104274000-104275200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:104274000-104275400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:104274000-104275400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr12:104274000-104275600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:104274000-104275600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:104274000-104275600	Enhancers	Fetal Thymus	thymus
19	chr12:104274000-104277400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:104274200-104275200	Enhancers	A549	lung
21	chr12:104274200-104275400	Enhancers	Fetal Intestine Large	intestine
22	chr12:104274200-104275400	Enhancers	Fetal Intestine Small	intestine
23	chr12:104274200-104275600	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:104274200-104277000	Enhancers	HepG2	liver
25	chr12:104274400-104275400	Enhancers	Primary B cells from cord blood	blood
26	chr12:104274400-104275600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:104274400-104275600	Flanking Active TSS	GM12878-XiMat	blood
28	chr12:104274400-104278000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:104275000-104277000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:104275000-104281600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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