Variant report

Variant	rs12967694
Chromosome Location	chr18:43719536-43719537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43677198..43679703-chr18:43717582..43720045,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152234	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11082512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082518	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12457740	0.87[EUR][1000 genomes]
rs12605945	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12607898	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs12954742	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs12959827	0.83[ASN][1000 genomes]
rs12962307	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs12969147	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs13381496	0.84[EUR][1000 genomes]
rs13381515	0.86[EUR][1000 genomes]
rs13381523	0.86[EUR][1000 genomes]
rs13381525	0.86[EUR][1000 genomes]
rs13381529	0.86[EUR][1000 genomes]
rs1658908	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs1791403	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1791407	0.83[CHB][hapmap]
rs1791413	0.83[CHB][hapmap]
rs1791414	0.83[CHB][hapmap]
rs1866321	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs3744858	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs3753069	0.86[JPT][hapmap]
rs4274509	0.84[CHB][hapmap]
rs4453596	0.81[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs4542747	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs4627465	0.83[EUR][1000 genomes]
rs4890312	0.86[JPT][hapmap]
rs4890628	0.87[CHB][hapmap]
rs4890629	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs4890632	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs55747741	0.86[EUR][1000 genomes]
rs62096523	0.89[EUR][1000 genomes]
rs62096524	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62096525	0.87[EUR][1000 genomes]
rs62096526	0.84[EUR][1000 genomes]
rs6507670	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6507676	0.87[EUR][1000 genomes]
rs718513	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs7228642	0.81[ASN][1000 genomes]
rs7231820	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs7234695	0.87[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs7236687	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7239351	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs7241527	0.87[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs7241829	0.89[EUR][1000 genomes]
rs7242375	0.91[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs7242845	0.83[ASN][1000 genomes]
rs7244632	0.85[ASN][1000 genomes]
rs7245091	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs73425119	0.84[EUR][1000 genomes]
rs8084309	0.86[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs8084827	0.84[EUR][1000 genomes]
rs8086956	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs8094706	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs8095729	0.86[EUR][1000 genomes]
rs9944715	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs9945783	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs9949494	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs9950234	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs9952469	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs9954577	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9955008	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs9963843	0.84[CHB][hapmap]
rs9965812	0.83[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12967694	C18orf25	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:43685400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:43685400-43732200	Weak transcription	Fetal Kidney	kidney
4	chr18:43706200-43747800	Weak transcription	Brain Substantia Nigra	brain
5	chr18:43707600-43735800	Weak transcription	Primary B cells from cord blood	blood
6	chr18:43708600-43723400	Weak transcription	Fetal Lung	lung
7	chr18:43710000-43723600	Weak transcription	HSMM	muscle
8	chr18:43710000-43732000	Weak transcription	Right Ventricle	heart
9	chr18:43710200-43727800	Weak transcription	Fetal Intestine Large	intestine
10	chr18:43710200-43728800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr18:43710400-43722200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr18:43710400-43722800	Weak transcription	Aorta	Aorta
13	chr18:43710400-43732400	Weak transcription	Lung	lung
14	chr18:43710400-43733000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr18:43710600-43752800	Weak transcription	Fetal Brain Female	brain
16	chr18:43710800-43732000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:43711000-43719800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr18:43711000-43728600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr18:43711000-43735600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr18:43711200-43732000	Weak transcription	Fetal Muscle Leg	muscle
21	chr18:43712200-43720200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:43712200-43721400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr18:43712200-43732000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr18:43712400-43721200	Weak transcription	Fetal Stomach	stomach
25	chr18:43712400-43723200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:43712400-43739200	Weak transcription	Fetal Intestine Small	intestine
27	chr18:43714000-43725400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:43714000-43728600	Weak transcription	Primary T cells from cord blood	blood
29	chr18:43714000-43748400	Weak transcription	Ovary	ovary
30	chr18:43715200-43723400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:43715600-43725600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr18:43715600-43732000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:43715600-43733400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr18:43715800-43728800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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