Variant report

Variant	rs10847689
Chromosome Location	chr12:122613000-122613001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122612935-122613130	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122515765..122517447-chr12:122610871..122613524,2	MCF-7	breast:
2	chr12:122610093..122613162-chr12:122619277..122622905,4	K562	blood:
3	chr12:122612652..122615876-chr12:122685490..122688136,3	K562	blood:
4	chr12:122457603..122461416-chr12:122608714..122613817,5	MCF-7	breast:
5	chr12:122516422..122518612-chr12:122611562..122613358,2	MCF-7	breast:
6	chr12:122611551..122613611-chr12:122618331..122620182,2	K562	blood:
7	chr12:122611022..122613336-chr12:122620039..122621726,2	MCF-7	breast:

No data

Variant related genes	Relation type
MLXIP	TF binding region
ENSG00000110987	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000255856	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1043763	0.89[EUR][1000 genomes]
rs1043764	0.89[EUR][1000 genomes]
rs11043307	0.95[CEU][hapmap];0.81[CHD][hapmap];1.00[TSI][hapmap]
rs11057403	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11057509	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11061153	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12299752	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2017594	0.94[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28478029	0.91[EUR][1000 genomes]
rs28622891	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28643366	1.00[CEU][hapmap];0.90[CHD][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28707600	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36045144	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3741452	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4075625	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132932	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4132933	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4758689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73217773	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73219860	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9668430	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10847689	MONDOA	cis	multi-tissue	Pritchard
rs10847689	MLXIP	cis	cerebellum	SCAN

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122599000-122614400	Weak transcription	Fetal Kidney	kidney
3	chr12:122608200-122613200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:122608200-122618800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:122608200-122618800	Weak transcription	GM12878-XiMat	blood
6	chr12:122608400-122613000	Weak transcription	NHLF	lung
7	chr12:122608400-122625400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:122608600-122613000	Weak transcription	HMEC	breast
9	chr12:122608600-122613400	Weak transcription	NHDF-Ad	bronchial
10	chr12:122608600-122614200	Weak transcription	NH-A	brain
11	chr12:122608600-122632800	Strong transcription	Fetal Stomach	stomach
12	chr12:122610000-122614400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:122610000-122614400	Strong transcription	NHEK	skin
14	chr12:122610000-122615400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:122610000-122617400	Strong transcription	Primary B cells from cord blood	blood
16	chr12:122610000-122621800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:122610200-122619600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:122610200-122629200	Strong transcription	Primary T cells from cord blood	blood
19	chr12:122610200-122629200	Strong transcription	Fetal Thymus	thymus
20	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:122610600-122629200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:122610600-122629400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:122610600-122633200	Weak transcription	Right Atrium	heart
25	chr12:122610800-122613000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:122610800-122628800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:122610800-122630600	Strong transcription	Thymus	Thymus
28	chr12:122611000-122616200	Strong transcription	K562	blood
29	chr12:122611200-122613800	Weak transcription	Psoas Muscle	Psoas
30	chr12:122611200-122614200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:122611200-122616000	Strong transcription	Primary hematopoietic stem cells	blood
32	chr12:122611200-122620600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr12:122611200-122620800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:122611200-122626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:122611200-122630400	Strong transcription	Gastric	stomach
36	chr12:122611400-122613200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:122611400-122613200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:122611400-122614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:122611400-122615000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:122611400-122618600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:122611400-122628800	Strong transcription	Pancreas	Pancrea
42	chr12:122611400-122629800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:122611400-122630400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:122611600-122613000	Genic enhancers	Colon Smooth Muscle	Colon
45	chr12:122611600-122613800	Enhancers	Fetal Heart	heart
46	chr12:122611600-122614200	Strong transcription	Fetal Muscle Leg	muscle
47	chr12:122611600-122621200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:122611600-122629000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:122611600-122630000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:122611600-122630600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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