Variant report

Variant	rs10431383
Chromosome Location	chr12:121126969-121126970
allele	C/T
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	MAFK	chr12:121126261-121127055	Hela-S3	cervix:	n/a	chr12:121126989-121127005 chr12:121126988-121127002 chr12:121126989-121127000 chr12:121126647-121126662 chr12:121126989-121127000
2	MAFK	chr12:121126411-121127125	IMR90	lung:	n/a	chr12:121126989-121127005 chr12:121126988-121127002 chr12:121126989-121127000 chr12:121126647-121126662 chr12:121126989-121127000
3	MAX	chr12:121126526-121126987	NB4	blood:	n/a	n/a
4	SPI1	chr12:121126614-121126977	HL-60	blood:	n/a	chr12:121126741-121126754 chr12:121126741-121126754 chr12:121126743-121126750
5	POLR2A	chr12:121126859-121127091	HepG2	liver:	n/a	n/a
6	MXI1	chr12:121123401-121127862	SK-N-SH	brain:	n/a	chr12:121124229-121124244 chr12:121124231-121124246
7	MAFK	chr12:121126530-121127095	HepG2	liver:	n/a	chr12:121126989-121127005 chr12:121126988-121127002 chr12:121126989-121127000 chr12:121126647-121126662 chr12:121126989-121127000
8	MAFK	chr12:121126476-121127066	HepG2	liver:	n/a	chr12:121126989-121127005 chr12:121126988-121127002 chr12:121126989-121127000 chr12:121126647-121126662 chr12:121126989-121127000
9	MAFF	chr12:121126523-121127091	K562	blood:	n/a	chr12:121126645-121126663
10	WRNIP1	chr12:121125562-121127520	GM12878	blood:	n/a	n/a
11	MAFF	chr12:121126471-121127053	HepG2	liver:	n/a	chr12:121126645-121126663
12	STAT3	chr12:121126810-121126975	MCF10A-Er-Src	breast:	n/a	n/a
13	MAZ	chr12:121126349-121127042	GM12878	blood:	n/a	n/a
14	RFX5	chr12:121126736-121126999	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121008513..121011933-chr12:121126000..121127892,3	MCF-7	breast:
2	chr12:121122674..121127779-chr12:121131254..121137297,11	MCF-7	breast:
3	chr12:121125134..121127601-chr20:52821438..52823168,2	MCF-7	breast:
4	chr12:121126318..121128176-chr12:121135786..121137880,3	MCF-7	breast:
5	chr12:121125276..121128582-chr12:121139011..121141679,3	MCF-7	breast:
6	chr12:120728399..120731246-chr12:121124112..121127371,3	MCF-7	breast:
7	chr12:121083460..121086406-chr12:121125581..121127490,2	K562	blood:
8	chr12:121125051..121127006-chr12:121446339..121449228,2	MCF-7	breast:
9	chr12:121083368..121085683-chr12:121126949..121129432,2	MCF-7	breast:
10	chr12:121017632..121023235-chr12:121123750..121127979,5	K562	blood:
11	chr12:121020078..121022631-chr12:121125640..121127142,2	K562	blood:
12	chr12:121126786..121129760-chr12:121147311..121149770,4	MCF-7	breast:
13	chr12:121115639..121118008-chr12:121125789..121128419,2	K562	blood:
14	chr10:99093772..99095545-chr12:121124812..121127214,2	MCF-7	breast:

Variant related genes	Relation type
MLEC	TF binding region
ENSG00000157895	Chromatin interaction
ENSG00000256364	Chromatin interaction
ENSG00000175970	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000181274	Chromatin interaction
ENSG00000225850	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10431372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849774	0.86[EUR][1000 genomes]
rs10849780	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849781	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065184	0.86[EUR][1000 genomes]
rs11065186	0.86[EUR][1000 genomes]
rs11065188	0.86[EUR][1000 genomes]
rs11065189	0.86[EUR][1000 genomes]
rs11065191	0.86[EUR][1000 genomes]
rs11065192	0.86[EUR][1000 genomes]
rs11065193	0.86[EUR][1000 genomes]
rs11065194	1.00[EUR][1000 genomes]
rs11065195	1.00[EUR][1000 genomes]
rs11065196	1.00[EUR][1000 genomes]
rs11065197	1.00[EUR][1000 genomes]
rs11065198	1.00[EUR][1000 genomes]
rs11065199	1.00[EUR][1000 genomes]
rs11065204	1.00[EUR][1000 genomes]
rs11065205	1.00[EUR][1000 genomes]
rs11065214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065221	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065224	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065229	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065234	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065235	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065238	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065240	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065241	0.86[EUR][1000 genomes]
rs11065242	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065243	0.84[ASN][1000 genomes]
rs11065244	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065245	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065246	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065262	0.83[EUR][1000 genomes]
rs12228118	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12228187	0.86[EUR][1000 genomes]
rs12229164	1.00[EUR][1000 genomes]
rs12229181	1.00[EUR][1000 genomes]
rs12231101	0.86[EUR][1000 genomes]
rs12231499	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17848090	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2071266	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2229534	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2239687	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2239757	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2239759	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3751166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809310	0.86[EUR][1000 genomes]
rs3809311	0.86[EUR][1000 genomes]
rs7302002	1.00[EUR][1000 genomes]
rs7973568	1.00[EUR][1000 genomes];1.00[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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121123600-121127000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:121123600-121127000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:121123800-121127000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:121123800-121127000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr12:121123800-121127000	Active TSS	Pancreas	Pancrea
6	chr12:121123800-121127000	Active TSS	HSMM	muscle
7	chr12:121123800-121127200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr12:121123800-121127200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:121123800-121127200	Active TSS	Fetal Muscle Trunk	muscle
10	chr12:121123800-121127600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:121124000-121127000	Active TSS	Fetal Intestine Small	intestine
12	chr12:121124000-121127200	Active TSS	GM12878-XiMat	blood
13	chr12:121124200-121127000	Active TSS	Colonic Mucosa	Colon
14	chr12:121125000-121127000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr12:121125000-121127600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr12:121125200-121127000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr12:121125200-121127800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:121125400-121127000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:121125400-121127000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr12:121125400-121127200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr12:121125400-121127600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr12:121125400-121127600	Flanking Active TSS	Liver	Liver
23	chr12:121125400-121127600	Flanking Active TSS	Fetal Thymus	thymus
24	chr12:121125400-121127600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr12:121125400-121127800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:121125600-121127000	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr12:121125600-121127000	Flanking Active TSS	Fetal Brain Female	brain
28	chr12:121125600-121127200	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr12:121125600-121127200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr12:121125600-121127200	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr12:121125600-121127200	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr12:121125600-121127200	Flanking Active TSS	Dnd41	blood
33	chr12:121125600-121127400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr12:121125600-121127400	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr12:121125600-121127600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:121125600-121127600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr12:121125600-121127600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr12:121125600-121127600	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr12:121125600-121128000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr12:121125800-121127000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:121125800-121127000	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr12:121125800-121127000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:121125800-121127400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:121125800-121127400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:121125800-121127400	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr12:121125800-121127400	Flanking Active TSS	K562	blood
47	chr12:121125800-121127400	Flanking Active TSS	NH-A	brain
48	chr12:121125800-121127400	Flanking Active TSS	Osteobl	bone
49	chr12:121125800-121127600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:121125800-121127600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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