Variant report

Variant	rs12311264
Chromosome Location	chr12:1718886-1718887
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1716647..1719370-chr12:1719904..1722064,2	MCF-7	breast:
2	chr12:1699689..1706116-chr12:1713524..1719359,13	MCF-7	breast:
3	chr12:1699199..1708657-chr12:1712989..1721243,16	MCF-7	breast:
4	chr12:1713181..1716889-chr12:1718186..1722611,7	K562	blood:
5	chr12:1712100..1714681-chr12:1718212..1720734,2	K562	blood:

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10848534	1.00[EUR][1000 genomes]
rs11061875	1.00[EUR][1000 genomes]
rs11503087	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11836960	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11838210	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13377750	1.00[EUR][1000 genomes]
rs58098444	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58275451	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7306444	1.00[EUR][1000 genomes]
rs7312449	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73605897	1.00[EUR][1000 genomes]
rs73605900	1.00[EUR][1000 genomes]
rs73607803	1.00[EUR][1000 genomes]
rs73607820	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1714600-1719000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:1715200-1720200	Enhancers	Stomach Mucosa	stomach
3	chr12:1715200-1723600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:1715200-1725800	Weak transcription	Esophagus	oesophagus
5	chr12:1715400-1719600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:1715400-1721800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr12:1715400-1738600	Weak transcription	Right Atrium	heart
8	chr12:1715600-1720800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:1715600-1720800	Weak transcription	Fetal Brain Male	brain
10	chr12:1715600-1721000	Weak transcription	Fetal Brain Female	brain
11	chr12:1715600-1721200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:1715600-1721600	Enhancers	Liver	Liver
13	chr12:1715800-1720600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:1715800-1720600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:1715800-1720600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:1715800-1720600	Weak transcription	Brain Germinal Matrix	brain
17	chr12:1715800-1720600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:1715800-1720600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:1715800-1720600	Weak transcription	NH-A	brain
20	chr12:1715800-1721000	Weak transcription	Brain Angular Gyrus	brain
21	chr12:1715800-1721000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:1716200-1719400	Weak transcription	Fetal Intestine Large	intestine
23	chr12:1716200-1719600	Weak transcription	Fetal Intestine Small	intestine
24	chr12:1716200-1719800	Weak transcription	Small Intestine	intestine
25	chr12:1716200-1720600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:1716200-1720600	Weak transcription	HMEC	breast
27	chr12:1716200-1720800	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:1716200-1720800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:1716200-1721200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:1716200-1721200	Weak transcription	Fetal Heart	heart
31	chr12:1716200-1734600	Weak transcription	Fetal Stomach	stomach
32	chr12:1716400-1720600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:1716600-1720600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:1716800-1719200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:1717000-1728800	Weak transcription	Lung	lung
36	chr12:1717600-1719200	Weak transcription	A549	lung
37	chr12:1717600-1720000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:1717600-1721200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:1717600-1723000	Weak transcription	K562	blood
40	chr12:1717800-1719800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:1717800-1720400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:1717800-1720800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:1717800-1723600	Weak transcription	Primary B cells from cord blood	blood
44	chr12:1718000-1720400	Weak transcription	NHLF	lung
45	chr12:1718000-1720600	Weak transcription	HSMM	muscle
46	chr12:1718000-1720600	Weak transcription	NHDF-Ad	bronchial
47	chr12:1718000-1720800	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:1718000-1720800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:1718200-1719000	Enhancers	Fetal Muscle Trunk	muscle
50	chr12:1718200-1719400	Weak transcription	Osteobl	bone

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