Variant report

Variant	rs28384808
Chromosome Location	chr12:1751790-1751791
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	BHLHE40	chr12:1751637-1752006	K562	blood:	n/a	chr12:1751802-1751811

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1750618..1752879-chr12:1756177..1759095,2	K562	blood:
2	chr12:1751543..1753813-chr12:1771357..1773090,2	K562	blood:

Variant related genes	Relation type
WNT5B	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11061891	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28384807	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv898587	chr12:1732295-1756642	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv898588	chr12:1736314-1755960	Bivalent Enhancer Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv898589	chr12:1738111-1755654	Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv898590	chr12:1740171-1757743	Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv898591	chr12:1745208-1755960	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv523570	chr12:1749905-1753290	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv468964	chr12:1749905-1769930	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv556995	chr12:1749905-1769930	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1739800-1753800	Weak transcription	Esophagus	oesophagus
2	chr12:1740600-1753400	Strong transcription	Osteobl	bone
3	chr12:1740600-1755000	Weak transcription	Spleen	Spleen
4	chr12:1740800-1753200	Weak transcription	NH-A	brain
5	chr12:1740800-1753600	Weak transcription	Placenta	Placenta
6	chr12:1740800-1757400	Weak transcription	GM12878-XiMat	blood
7	chr12:1741400-1752800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:1742000-1753400	Weak transcription	NHEK	skin
9	chr12:1743600-1759000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:1744000-1753000	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:1744000-1753200	Weak transcription	Colonic Mucosa	Colon
12	chr12:1744200-1753400	Weak transcription	Adipose Nuclei	Adipose
13	chr12:1744400-1752000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:1744400-1753000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:1744400-1753200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:1744400-1753200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:1744400-1759000	Weak transcription	Right Ventricle	heart
18	chr12:1744600-1753000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:1744600-1753000	Weak transcription	Brain Substantia Nigra	brain
20	chr12:1744600-1758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:1745000-1753200	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:1745600-1753600	Weak transcription	Liver	Liver
23	chr12:1746200-1752000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:1746600-1758000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:1747600-1752000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:1747800-1754600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr12:1747800-1755800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:1747800-1756000	Weak transcription	K562	blood
29	chr12:1748000-1753400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:1748000-1753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:1748200-1753400	Weak transcription	HSMM	muscle
32	chr12:1748600-1753000	Enhancers	Fetal Brain Male	brain
33	chr12:1748800-1753200	Weak transcription	Lung	lung
34	chr12:1749200-1752600	Strong transcription	NHDF-Ad	bronchial
35	chr12:1749200-1760200	Weak transcription	Gastric	stomach
36	chr12:1749400-1753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:1749800-1753000	Weak transcription	Fetal Lung	lung
38	chr12:1749800-1753400	Weak transcription	Stomach Mucosa	stomach
39	chr12:1750000-1752200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:1750000-1753200	Weak transcription	Fetal Thymus	thymus
41	chr12:1750000-1754800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:1750000-1766800	Weak transcription	Pancreas	Pancrea
43	chr12:1750200-1753000	Weak transcription	Brain Anterior Caudate	brain
44	chr12:1750200-1753000	Enhancers	Fetal Brain Female	brain
45	chr12:1750200-1753000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:1750200-1753200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:1750200-1753200	Weak transcription	NHLF	lung
48	chr12:1750200-1753400	Weak transcription	Ovary	ovary
49	chr12:1750200-1753600	Weak transcription	HSMMtube	muscle
50	chr12:1750600-1754800	Weak transcription	Thymus	Thymus

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