Variant report

Variant	rs10431384
Chromosome Location	chr12:121127347-121127348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:121127161-121127482	HepG2	liver:	n/a	chr12:121127328-121127339
2	MXI1	chr12:121123401-121127862	SK-N-SH	brain:	n/a	chr12:121124229-121124244 chr12:121124231-121124246
3	WRNIP1	chr12:121125562-121127520	GM12878	blood:	n/a	n/a
4	CEBPB	chr12:121127203-121127460	K562	blood:	n/a	chr12:121127328-121127339
5	CEBPB	chr12:121127232-121127479	H1-hESC	embryonic stem cell:	n/a	chr12:121127328-121127339
6	SIN3A	chr12:121127174-121127536	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr12:121127220-121127370	NB4	blood:	n/a	n/a
8	POLR2A	chr12:121127299-121127552	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:121008513..121011933-chr12:121126000..121127892,3	MCF-7	breast:
2	chr1:149858472..149859038-chr12:121127263..121127885,2	Hela-S3	cervix:
3	chr12:121122674..121127779-chr12:121131254..121137297,11	MCF-7	breast:
4	chr12:121125134..121127601-chr20:52821438..52823168,2	MCF-7	breast:
5	chr12:121126318..121128176-chr12:121135786..121137880,3	MCF-7	breast:
6	chr12:121125276..121128582-chr12:121139011..121141679,3	MCF-7	breast:
7	chr12:121127233..121131774-chr12:121146015..121149455,5	MCF-7	breast:
8	chr12:120728399..120731246-chr12:121124112..121127371,3	MCF-7	breast:
9	chr12:121083460..121086406-chr12:121125581..121127490,2	K562	blood:
10	chr12:121083368..121085683-chr12:121126949..121129432,2	MCF-7	breast:
11	chr12:121017632..121023235-chr12:121123750..121127979,5	K562	blood:
12	chr12:121126786..121129760-chr12:121147311..121149770,4	MCF-7	breast:
13	chr12:121115639..121118008-chr12:121125789..121128419,2	K562	blood:

No data

Variant related genes	Relation type
MLEC	TF binding region
ENSG00000110917	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000175970	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000256364	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000184260	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10431385	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10431386	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[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]
rs10849778	0.83[YRI][hapmap]
rs10849781	0.80[CHD][hapmap]
rs2005455	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2239760	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[YRI][hapmap];0.90[ASN][1000 genomes]
rs2393749	0.80[MEX][hapmap];0.82[EUR][1000 genomes]
rs2393778	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2948149	0.90[ASN][1000 genomes]
rs3021337	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3751166	0.81[CHD][hapmap]
rs3916	0.80[CEU][hapmap]
rs7964786	0.80[MEX][hapmap];0.82[EUR][1000 genomes]
rs7973568	0.81[CHD][hapmap]
rs9204	0.80[CEU][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap]
rs998727	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv3498619	chr12:121124863-121129114	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3498630	chr12:121124863-121129114	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10431384	UNC119B	cis	parietal	SCAN
rs10431384	ACADS	cis	multi-tissue	Pritchard
rs10431384	XAGE3	cis	Liver	GTEx
rs10431384	XAGE3	trans	multi-tissue	Pritchard
rs10431384	ACADS	cis	Liver	GTEx
rs10431384	PLA2G1B	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121123800-121127600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:121125000-121127600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr12:121125200-121127800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:121125400-121127600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr12:121125400-121127600	Flanking Active TSS	Liver	Liver
6	chr12:121125400-121127600	Flanking Active TSS	Fetal Thymus	thymus
7	chr12:121125400-121127600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:121125400-121127800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:121125600-121127400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr12:121125600-121127400	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr12:121125600-121127600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:121125600-121127600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr12:121125600-121127600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr12:121125600-121127600	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr12:121125600-121128000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr12:121125800-121127400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:121125800-121127400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:121125800-121127400	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr12:121125800-121127400	Flanking Active TSS	K562	blood
20	chr12:121125800-121127400	Flanking Active TSS	NH-A	brain
21	chr12:121125800-121127400	Flanking Active TSS	Osteobl	bone
22	chr12:121125800-121127600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:121125800-121127600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr12:121125800-121127600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr12:121125800-121127600	Flanking Active TSS	Fetal Heart	heart
26	chr12:121125800-121127600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr12:121125800-121127600	Flanking Active TSS	HUVEC	blood vessel
28	chr12:121125800-121127800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:121125800-121127800	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr12:121125800-121127800	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr12:121126000-121127400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:121126000-121127400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:121126000-121127400	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr12:121126000-121127600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr12:121126000-121127600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:121126000-121127600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:121126000-121127600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr12:121126000-121127600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr12:121126000-121127600	Flanking Active TSS	Fetal Kidney	kidney
40	chr12:121126000-121127800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:121126000-121127800	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr12:121126000-121127800	Flanking Active TSS	Hela-S3	cervix
43	chr12:121126000-121128000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr12:121126000-121128000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr12:121126000-121129000	Enhancers	Spleen	Spleen
46	chr12:121126200-121127400	Flanking Active TSS	NHEK	skin
47	chr12:121126200-121127600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:121126200-121127600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:121126200-121127600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr12:121126200-121127600	Enhancers	Primary B cells from peripheral blood	blood

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