Variant report

Variant	rs9944715
Chromosome Location	chr18:43831259-43831260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43752714..43757131-chr18:43829030..43833510,5	MCF-7	breast:
2	chr18:43829216..43831646-chr18:43834393..43837026,3	K562	blood:
3	chr18:43822903..43824970-chr18:43829081..43831367,2	K562	blood:
4	chr18:43823470..43825591-chr18:43828533..43831367,2	K562	blood:

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs11082512	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs11082514	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11082518	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12457740	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12604963	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12605275	0.84[ASN][1000 genomes]
rs12605945	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12607898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12608232	0.92[EUR][1000 genomes]
rs12709736	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12953780	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs12954967	0.83[ASN][1000 genomes]
rs12962307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12962951	0.96[EUR][1000 genomes]
rs12963787	0.97[EUR][1000 genomes]
rs12963943	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12967694	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12969147	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13381496	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13381515	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13381523	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13381525	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13381529	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16978526	0.84[ASN][1000 genomes]
rs16978530	0.82[ASN][1000 genomes]
rs1791407	0.86[JPT][hapmap]
rs1791413	0.86[JPT][hapmap]
rs1791414	0.86[JPT][hapmap]
rs1808946	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36191490	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3744858	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4243279	0.83[ASN][1000 genomes]
rs4274509	0.86[JPT][hapmap]
rs4335852	0.92[EUR][1000 genomes]
rs4453594	0.96[EUR][1000 genomes]
rs4453596	0.94[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4542747	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4574015	0.95[CEU][hapmap];0.97[EUR][1000 genomes]
rs4627465	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4890317	0.90[CEU][hapmap];0.98[GIH][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs4890319	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4890320	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4890321	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890626	0.87[EUR][1000 genomes]
rs4890628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4890629	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4890631	0.97[EUR][1000 genomes]
rs4890632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890633	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4890634	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55747741	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62096523	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62096524	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62096525	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62096526	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62098160	0.91[EUR][1000 genomes]
rs6507670	0.81[EUR][1000 genomes]
rs6507675	0.86[JPT][hapmap]
rs6507676	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6507677	0.90[EUR][1000 genomes]
rs6507679	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs6507680	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6507681	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6507682	0.92[EUR][1000 genomes]
rs6507690	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6507691	0.96[EUR][1000 genomes]
rs6507692	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6507693	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs718513	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs718514	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7227847	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7228024	0.82[ASN][1000 genomes]
rs7228365	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs7230154	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7230905	0.81[ASN][1000 genomes]
rs7230995	0.96[EUR][1000 genomes]
rs7231430	0.95[CEU][hapmap];0.98[GIH][hapmap];0.90[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7231820	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7234695	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7236687	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7239351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7240354	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7241527	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7241829	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7242375	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7245091	0.94[ASW][hapmap];0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73425119	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7506126	0.86[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs8084309	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8084827	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8084829	0.95[EUR][1000 genomes]
rs8085138	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8086610	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8086956	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8090542	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8093407	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8094070	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8094706	1.00[ASW][hapmap];0.95[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];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8095142	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8095729	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8095799	0.95[EUR][1000 genomes]
rs8098751	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8099202	1.00[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9675387	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9807157	0.95[CEU][hapmap];0.98[GIH][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9944767	0.95[CEU][hapmap];0.98[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs9944836	0.95[CEU][hapmap];0.98[GIH][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9945783	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9947206	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9948282	0.95[EUR][1000 genomes]
rs9949494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9951624	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9952469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9952654	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9956574	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs9959526	0.91[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs9959813	0.95[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs9959905	0.93[CEU][hapmap];0.98[EUR][1000 genomes]
rs9960378	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9963153	0.95[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9963843	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9967229	0.91[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064031	chr18:43782309-43878806	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9944715	C18orf25	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43797000-43833400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr18:43798800-43833800	Weak transcription	HepG2	liver
3	chr18:43799000-43834000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:43810200-43832400	Weak transcription	Aorta	Aorta
5	chr18:43820600-43833400	Weak transcription	Ovary	ovary
6	chr18:43825400-43844200	Weak transcription	Fetal Brain Female	brain
7	chr18:43825800-43834000	Weak transcription	Liver	Liver
8	chr18:43826200-43840000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr18:43826600-43847000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr18:43826800-43843600	Weak transcription	Brain Germinal Matrix	brain
11	chr18:43828200-43839600	Weak transcription	Right Atrium	heart
12	chr18:43828400-43839600	Weak transcription	Fetal Stomach	stomach
13	chr18:43828600-43832600	Enhancers	Placenta	Placenta
14	chr18:43828800-43831400	Enhancers	Psoas Muscle	Psoas
15	chr18:43828800-43831400	Enhancers	HMEC	breast
16	chr18:43829000-43831400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr18:43829000-43831400	Enhancers	HSMM	muscle
18	chr18:43829200-43840400	Weak transcription	K562	blood
19	chr18:43829200-43842800	Weak transcription	Fetal Muscle Leg	muscle
20	chr18:43829400-43831400	Enhancers	Fetal Intestine Small	intestine
21	chr18:43829400-43832400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr18:43829600-43831400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr18:43829800-43831400	Enhancers	Fetal Intestine Large	intestine
24	chr18:43830000-43831400	Enhancers	Brain Substantia Nigra	brain
25	chr18:43830000-43831400	Enhancers	Colon Smooth Muscle	Colon
26	chr18:43830000-43837600	Weak transcription	Left Ventricle	heart
27	chr18:43830000-43839400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:43830000-43854200	Weak transcription	Esophagus	oesophagus
29	chr18:43830400-43831400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:43830400-43839600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr18:43830400-43842800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr18:43830600-43831400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr18:43830600-43831400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr18:43830600-43833400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:43830600-43833600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr18:43830600-43847400	Weak transcription	Pancreas	Pancrea
37	chr18:43830800-43831400	Enhancers	Primary hematopoietic stem cells	blood
38	chr18:43830800-43831400	Enhancers	Brain Hippocampus Middle	brain
39	chr18:43830800-43832600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:43830800-43839800	Weak transcription	Fetal Heart	heart
41	chr18:43830800-43842600	Weak transcription	Gastric	stomach
42	chr18:43831000-43831400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr18:43831000-43831400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr18:43831000-43831400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr18:43831000-43831400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr18:43831000-43831400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr18:43831000-43831400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr18:43831000-43831400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr18:43831000-43831400	Enhancers	Duodenum Mucosa	Duodenum
50	chr18:43831000-43831400	Enhancers	Duodenum Smooth Muscle	Duodenum

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