Variant report

Variant	rs11075064
Chromosome Location	chr16:12471355-12471356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr16:12471353-12471719	K562	blood:	n/a	chr16:12471567-12471585
2	GATA1	chr16:12470696-12471878	K562	blood:	n/a	chr16:12471568-12471585 chr16:12471547-12471560
3	TEAD4	chr16:12471327-12471758	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12470715..12473444-chr16:12481044..12482837,2	K562	blood:
2	chr16:12466341..12467907-chr16:12469867..12472609,2	K562	blood:

Variant related genes	Relation type
ENSG00000261394	TF binding region
ENSG00000260723	Chromatin interaction
ENSG00000261394	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12595990	0.80[GIH][hapmap]
rs7185731	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11075064	SNX29	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12435800-12484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:12444800-12491400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr16:12453200-12479000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr16:12455600-12479400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:12456800-12478600	Weak transcription	Ovary	ovary
6	chr16:12457000-12492400	Weak transcription	Lung	lung
7	chr16:12457400-12497400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr16:12457600-12491600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:12457600-12497400	Weak transcription	Spleen	Spleen
10	chr16:12461000-12471600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr16:12461000-12473400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:12461200-12490200	Weak transcription	GM12878-XiMat	blood
13	chr16:12467800-12471800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr16:12467800-12471800	Enhancers	Brain Substantia Nigra	brain
15	chr16:12467800-12472200	Enhancers	Brain Cingulate Gyrus	brain
16	chr16:12468200-12471600	Enhancers	Brain Hippocampus Middle	brain
17	chr16:12468200-12475800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr16:12468600-12471600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:12468800-12472600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:12469000-12471600	Enhancers	Brain Angular Gyrus	brain
21	chr16:12469000-12471600	Enhancers	Brain Anterior Caudate	brain
22	chr16:12469000-12472200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:12469000-12474000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:12469400-12471400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr16:12469600-12473200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:12469800-12471400	Weak transcription	Aorta	Aorta
27	chr16:12470200-12497400	Weak transcription	Left Ventricle	heart
28	chr16:12470600-12471600	Genic enhancers	Primary T cells from cord blood	blood
29	chr16:12470600-12471600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr16:12470600-12471600	Enhancers	Fetal Thymus	thymus
31	chr16:12470600-12473000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr16:12470800-12471400	Enhancers	Colon Smooth Muscle	Colon
33	chr16:12470800-12471400	Enhancers	Esophagus	oesophagus
34	chr16:12470800-12471600	Enhancers	Right Atrium	heart
35	chr16:12470800-12471600	Enhancers	Thymus	Thymus
36	chr16:12470800-12471800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:12470800-12472000	Enhancers	HepG2	liver
38	chr16:12470800-12472200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:12470800-12476000	Weak transcription	Primary B cells from cord blood	blood
40	chr16:12470800-12479200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr16:12471000-12471800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:12471000-12480800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr16:12471000-12486000	Weak transcription	HSMMtube	muscle
44	chr16:12471200-12471600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr16:12471200-12471800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr16:12471200-12472000	Weak transcription	Adipose Nuclei	Adipose
47	chr16:12471200-12472600	Enhancers	K562	blood
48	chr16:12471200-12494200	Weak transcription	Stomach Smooth Muscle	stomach

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