Variant report

Variant	rs28584048
Chromosome Location	chr12:1714436-1714437
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1709780..1712426-chr12:1712979..1714739,2	K562	blood:
2	chr12:1714212..1714749-chr12:1739345..1739945,2	MCF-7	breast:
3	chr12:1714073..1716320-chr12:1769729..1772377,3	K562	blood:
4	chr12:1712100..1714681-chr12:1718212..1720734,2	K562	blood:
5	chr12:1699689..1706116-chr12:1713524..1719359,13	MCF-7	breast:
6	chr12:1702465..1707367-chr12:1707740..1717720,20	K562	blood:
7	chr12:1713956..1716010-chr12:1769729..1772627,2	K562	blood:
8	chr12:1713815..1716830-chr12:1725934..1728212,3	K562	blood:
9	chr12:1713181..1716889-chr12:1718186..1722611,7	K562	blood:
10	chr12:1699199..1708657-chr12:1712989..1721243,16	MCF-7	breast:
11	chr12:1710106..1713185-chr12:1713839..1716585,4	K562	blood:
12	chr12:679647..681193-chr12:1713500..1715289,2	K562	blood:
13	chr12:1713456..1716341-chr12:1722548..1725972,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction
ENSG00000111186	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10773963	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4766395	0.83[ASN][1000 genomes]
rs7308793	0.83[ASN][1000 genomes]
rs7316135	0.82[AFR][1000 genomes]
rs886846	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs886847	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv1834423	chr12:1703324-1727170	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	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
11	esv3372221	chr12:1712091-1716389	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1711000-1714600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:1711200-1714600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:1711200-1714600	Weak transcription	Brain Substantia Nigra	brain
4	chr12:1711200-1714600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:1711400-1714600	Weak transcription	HUVEC	blood vessel
6	chr12:1711800-1714600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:1711800-1714600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:1711800-1717200	Weak transcription	Dnd41	blood
9	chr12:1712600-1714600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:1713600-1714600	Enhancers	Fetal Thymus	thymus
11	chr12:1713800-1714600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:1713800-1714600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:1713800-1714800	Enhancers	Fetal Brain Male	brain
14	chr12:1713800-1715000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr12:1713800-1715800	Flanking Active TSS	GM12878-XiMat	blood
16	chr12:1714000-1714600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:1714000-1714600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:1714000-1714600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:1714000-1714600	Enhancers	Esophagus	oesophagus
20	chr12:1714000-1714600	Enhancers	Pancreas	Pancrea
21	chr12:1714200-1714600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:1714200-1714600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:1714200-1714600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr12:1714200-1714600	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:1714200-1714600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:1714200-1714600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:1714200-1714600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:1714200-1714600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr12:1714200-1714600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:1714200-1714600	Enhancers	Colon Smooth Muscle	Colon
31	chr12:1714200-1714600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr12:1714200-1714600	Enhancers	Placenta	Placenta
33	chr12:1714200-1714600	Enhancers	Fetal Stomach	stomach
34	chr12:1714200-1714600	Enhancers	Left Ventricle	heart
35	chr12:1714200-1714600	Enhancers	Ovary	ovary
36	chr12:1714200-1714600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr12:1714200-1714600	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr12:1714200-1714600	Enhancers	Right Atrium	heart
39	chr12:1714200-1714600	Enhancers	Right Ventricle	heart
40	chr12:1714200-1714600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr12:1714200-1714600	Enhancers	Stomach Mucosa	stomach
42	chr12:1714200-1714600	Enhancers	Thymus	Thymus
43	chr12:1714200-1714600	Enhancers	NH-A	brain
44	chr12:1714200-1714600	Flanking Active TSS	NHDF-Ad	bronchial
45	chr12:1714200-1714800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:1714200-1714800	Enhancers	Fetal Heart	heart
47	chr12:1714200-1714800	Active TSS	Fetal Kidney	kidney
48	chr12:1714200-1715200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:1714200-1715400	Flanking Active TSS	Colonic Mucosa	Colon
50	chr12:1714200-1715600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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