Variant report

Variant	rs7308793
Chromosome Location	chr12:1711109-1711110
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1710106..1713185-chr12:1713839..1716585,4	K562	blood:
2	chr12:1709780..1712426-chr12:1712979..1714739,2	K562	blood:
3	chr12:1702465..1707367-chr12:1707740..1717720,20	K562	blood:
4	chr12:1703565..1707939-chr12:1709383..1712701,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10773963	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10773964	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2240506	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs28584048	0.83[ASN][1000 genomes]
rs4765829	0.90[JPT][hapmap]
rs4766395	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316135	0.81[CHD][hapmap]
rs886846	0.85[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7308793	SLC6A12	cis	parietal	SCAN
rs7308793	FGF23	cis	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1704800-1713800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:1704800-1714000	Weak transcription	Esophagus	oesophagus
3	chr12:1704800-1714200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:1704800-1714200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:1705000-1713600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:1705000-1713800	Weak transcription	HMEC	breast
7	chr12:1705200-1713800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:1705400-1713800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:1705600-1714000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:1705600-1714400	Weak transcription	Fetal Brain Female	brain
11	chr12:1706400-1714400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:1710200-1711600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr12:1710400-1711200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:1710400-1711200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr12:1710400-1711200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr12:1710400-1711400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr12:1710400-1711400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:1710400-1711400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr12:1710400-1711400	Active TSS	NHDF-Ad	bronchial
20	chr12:1710400-1711600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:1710400-1711600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr12:1710400-1711800	Flanking Active TSS	Dnd41	blood
23	chr12:1710400-1713800	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:1710600-1711200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:1710600-1711200	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr12:1710600-1711200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr12:1710600-1711200	Active TSS	Liver	Liver
28	chr12:1710600-1711200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:1710600-1711200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr12:1710600-1711200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr12:1710600-1711200	Active TSS	Rectal Smooth Muscle	rectum
32	chr12:1710600-1711200	Active TSS	Right Atrium	heart
33	chr12:1710600-1711200	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr12:1710600-1711200	Active TSS	Stomach Mucosa	stomach
35	chr12:1710600-1711200	Active TSS	Stomach Smooth Muscle	stomach
36	chr12:1710600-1711200	Active TSS	HSMM	muscle
37	chr12:1710600-1711200	Active TSS	HSMMtube	muscle
38	chr12:1710600-1711200	Flanking Active TSS	HUVEC	blood vessel
39	chr12:1710600-1711200	Active TSS	NHLF	lung
40	chr12:1710600-1711400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:1710600-1711400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr12:1710600-1711400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:1710600-1711400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr12:1710600-1711400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:1710600-1711400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr12:1710600-1711400	Flanking Active TSS	Fetal Thymus	thymus
47	chr12:1710600-1711400	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr12:1710600-1711600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr12:1710600-1711600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:1710600-1711800	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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