Variant report

Variant	rs929270
Chromosome Location	chr12:48112377-48112378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48097267..48105309-chr12:48111877..48120917,8	MCF-7	breast:
2	chr12:48099768..48101524-chr12:48112369..48115075,3	K562	blood:
3	chr12:48110039..48113166-chr12:48116140..48121059,8	MCF-7	breast:
4	chr12:48110716..48112892-chr12:48170782..48173375,2	K562	blood:
5	chr12:48111612..48114264-chr12:48135856..48138068,2	K562	blood:

Variant related genes	Relation type
ENSG00000005175	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000211584	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1233062	0.94[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs2072116	0.94[LWK][hapmap];1.00[YRI][hapmap]
rs2238145	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs3829317	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs757282	1.00[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs886431	1.00[LWK][hapmap];0.89[YRI][hapmap];0.83[AFR][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	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs929270	FKBP11	cis	cerebellum	SCAN
rs929270	MYST1	trans	parietal	SCAN
rs929270	ARF3	cis	cerebellum	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48102800-48125000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:48104600-48113000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:48106200-48112600	Enhancers	Ovary	ovary
4	chr12:48108200-48112400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:48108600-48112400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr12:48108800-48112600	Enhancers	Brain Cingulate Gyrus	brain
7	chr12:48108800-48112600	Enhancers	Fetal Muscle Leg	muscle
8	chr12:48108800-48112600	Enhancers	Fetal Stomach	stomach
9	chr12:48108800-48112600	Enhancers	Left Ventricle	heart
10	chr12:48108800-48112600	Enhancers	Right Atrium	heart
11	chr12:48108800-48112600	Enhancers	Right Ventricle	heart
12	chr12:48108800-48112800	Enhancers	Brain Hippocampus Middle	brain
13	chr12:48108800-48112800	Enhancers	Brain Substantia Nigra	brain
14	chr12:48108800-48113000	Enhancers	Rectal Smooth Muscle	rectum
15	chr12:48109000-48112400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr12:48109000-48112400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:48109000-48112600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:48109000-48112600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:48109000-48112600	Enhancers	Lung	lung
20	chr12:48109400-48112400	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:48109600-48113400	Enhancers	Adipose Nuclei	Adipose
22	chr12:48109800-48112600	Enhancers	Brain Anterior Caudate	brain
23	chr12:48109800-48112800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:48110000-48113000	Enhancers	Colon Smooth Muscle	Colon
25	chr12:48110400-48112600	Enhancers	Primary B cells from peripheral blood	blood
26	chr12:48110400-48112600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:48110400-48112600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:48110600-48112400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:48110600-48113000	Enhancers	Fetal Heart	heart
30	chr12:48110800-48112400	Enhancers	Placenta	Placenta
31	chr12:48110800-48112600	Enhancers	Duodenum Mucosa	Duodenum
32	chr12:48110800-48112600	Enhancers	Spleen	Spleen
33	chr12:48111000-48112400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:48111000-48112600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:48111000-48112600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:48111000-48112600	Enhancers	NH-A	brain
37	chr12:48111000-48113800	Enhancers	Esophagus	oesophagus
38	chr12:48111200-48112400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr12:48111200-48112400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:48111400-48112400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr12:48111400-48112600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr12:48111400-48112600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:48111400-48116000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:48111400-48124000	Weak transcription	Gastric	stomach
45	chr12:48111600-48112400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:48111600-48115800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:48111800-48112400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr12:48111800-48112800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:48111800-48114600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:48111800-48114800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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