Variant report

Variant	rs9944767
Chromosome Location	chr18:43831057-43831058
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:
5	chr18:43779426..43780247-chr18:43830459..43831224,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs11082514	0.87[EUR][1000 genomes]
rs11082518	0.95[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs11082519	0.93[ASN][1000 genomes]
rs12457516	0.88[ASN][1000 genomes]
rs12457740	0.83[EUR][1000 genomes]
rs12605945	0.95[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs12607898	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs12608232	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12709736	0.92[EUR][1000 genomes]
rs12962307	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs12962951	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12963787	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12963943	0.87[EUR][1000 genomes]
rs12969147	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs13381496	0.82[EUR][1000 genomes]
rs13381515	0.84[EUR][1000 genomes]
rs13381523	0.83[EUR][1000 genomes]
rs13381525	0.83[EUR][1000 genomes]
rs13381529	0.84[EUR][1000 genomes]
rs1808946	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36191490	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744858	0.95[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs4335852	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4453594	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4453596	0.81[CEU][hapmap];0.98[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs4542747	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs4574015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4627465	0.83[EUR][1000 genomes]
rs4890317	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4890319	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890320	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890321	0.93[EUR][1000 genomes]
rs4890626	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4890628	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs4890629	0.90[CEU][hapmap];0.98[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs4890631	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890632	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs4890633	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890634	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4890635	0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs55747741	0.83[EUR][1000 genomes]
rs62096523	0.82[EUR][1000 genomes]
rs62096524	0.80[EUR][1000 genomes]
rs62096525	0.82[EUR][1000 genomes]
rs62096526	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62098160	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6507676	0.81[EUR][1000 genomes]
rs6507677	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6507680	0.88[EUR][1000 genomes]
rs6507681	0.82[EUR][1000 genomes]
rs6507682	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6507690	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6507691	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6507692	0.94[EUR][1000 genomes]
rs6507693	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718513	0.81[CEU][hapmap];0.91[EUR][1000 genomes]
rs718514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7227847	0.91[EUR][1000 genomes]
rs7228365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230995	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7231430	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231820	0.84[CEU][hapmap];0.93[GIH][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]
rs7234695	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs7239351	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs7240354	0.85[EUR][1000 genomes]
rs7242375	0.86[MEX][hapmap];0.86[TSI][hapmap]
rs7245091	0.81[CEU][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs73425119	0.84[EUR][1000 genomes]
rs8084309	0.85[CEU][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs8084827	0.82[EUR][1000 genomes]
rs8084829	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8085138	0.88[EUR][1000 genomes]
rs8086610	0.92[EUR][1000 genomes]
rs8086956	0.90[CEU][hapmap];0.98[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs8090542	0.88[EUR][1000 genomes]
rs8093407	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8094070	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8094706	0.90[CEU][hapmap];0.98[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs8095142	0.89[EUR][1000 genomes]
rs8095729	0.82[EUR][1000 genomes]
rs8095799	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8098751	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8099202	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9675387	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9807157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9944715	0.95[CEU][hapmap];0.98[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs9944836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9945783	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs9947206	0.93[EUR][1000 genomes]
rs9948282	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9949494	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs9951624	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9952469	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs9952654	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9956574	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9959813	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9959905	1.00[CEU][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9960378	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9963153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9963843	0.94[CEU][hapmap]

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

No data

Chromatin state (count:114 , 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	chr18:43828800-43831200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:43828800-43831400	Enhancers	Psoas Muscle	Psoas
16	chr18:43828800-43831400	Enhancers	HMEC	breast
17	chr18:43829000-43831400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:43829000-43831400	Enhancers	HSMM	muscle
19	chr18:43829200-43840400	Weak transcription	K562	blood
20	chr18:43829200-43842800	Weak transcription	Fetal Muscle Leg	muscle
21	chr18:43829400-43831400	Enhancers	Fetal Intestine Small	intestine
22	chr18:43829400-43832400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr18:43829600-43831200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr18:43829600-43831200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr18:43829600-43831200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:43829600-43831200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr18:43829600-43831200	Enhancers	Adipose Nuclei	Adipose
28	chr18:43829600-43831400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr18:43829800-43831200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr18:43829800-43831400	Enhancers	Fetal Intestine Large	intestine
31	chr18:43830000-43831200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:43830000-43831200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr18:43830000-43831200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr18:43830000-43831200	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr18:43830000-43831200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:43830000-43831400	Enhancers	Brain Substantia Nigra	brain
37	chr18:43830000-43831400	Enhancers	Colon Smooth Muscle	Colon
38	chr18:43830000-43837600	Weak transcription	Left Ventricle	heart
39	chr18:43830000-43839400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr18:43830000-43854200	Weak transcription	Esophagus	oesophagus
41	chr18:43830200-43831200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr18:43830200-43831200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr18:43830400-43831200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr18:43830400-43831400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:43830400-43839600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr18:43830400-43842800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr18:43830600-43831200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:43830600-43831200	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr18:43830600-43831200	Weak transcription	Thymus	Thymus
50	chr18:43830600-43831200	Flanking Active TSS	GM12878-XiMat	blood

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