Variant report

Variant	rs4890633
Chromosome Location	chr18:43833278-43833279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43832515..43836079-chr18:43838698..43841827,4	K562	blood:
2	chr18:43816528..43818716-chr18:43832910..43835348,2	K562	blood:
3	chr18:43752714..43757131-chr18:43829030..43833510,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs11082514	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11082518	1.00[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11082519	0.93[ASN][1000 genomes]
rs12457516	0.88[ASN][1000 genomes]
rs12457740	0.85[EUR][1000 genomes]
rs12605945	1.00[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12607898	1.00[CEU][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12608232	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12709736	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12962307	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12962951	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12963787	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12963943	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12969147	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13381496	0.86[EUR][1000 genomes]
rs13381515	0.87[EUR][1000 genomes]
rs13381523	0.87[EUR][1000 genomes]
rs13381525	0.87[EUR][1000 genomes]
rs13381529	0.87[EUR][1000 genomes]
rs1808946	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36191490	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744858	1.00[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4335852	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4453594	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4453596	1.00[ASW][hapmap];0.86[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs4542747	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4574015	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4627465	0.87[EUR][1000 genomes]
rs4890317	0.90[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4890319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890320	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890321	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4890626	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4890628	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4890629	0.95[CEU][hapmap];0.95[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4890631	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890632	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4890634	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4890635	0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs55747741	0.87[EUR][1000 genomes]
rs62096523	0.84[EUR][1000 genomes]
rs62096524	0.85[EUR][1000 genomes]
rs62096525	0.86[EUR][1000 genomes]
rs62096526	0.85[EUR][1000 genomes]
rs62098160	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6507670	0.81[EUR][1000 genomes]
rs6507676	0.85[EUR][1000 genomes]
rs6507677	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6507680	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6507681	0.87[EUR][1000 genomes]
rs6507682	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6507690	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6507691	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6507692	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6507693	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718513	0.86[CEU][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs718514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7227847	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7228365	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230154	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230995	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7231430	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231820	0.94[ASW][hapmap];0.90[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7234695	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs7236687	0.84[EUR][1000 genomes]
rs7239351	1.00[CEU][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7240354	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7241527	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs7241829	0.83[EUR][1000 genomes]
rs7242375	0.90[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs7245091	1.00[ASW][hapmap];0.86[CEU][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs73425119	0.86[EUR][1000 genomes]
rs8084309	0.90[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs8084827	0.87[EUR][1000 genomes]
rs8084829	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8085138	0.93[EUR][1000 genomes]
rs8086610	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8086956	0.94[ASW][hapmap];0.95[CEU][hapmap];0.95[GIH][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8090542	0.93[EUR][1000 genomes]
rs8093407	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8094070	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8094706	0.94[ASW][hapmap];0.95[CEU][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8095142	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8095729	0.87[EUR][1000 genomes]
rs8095799	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8098751	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8099202	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9675387	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9807157	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9944715	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]
rs9944767	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]
rs9944836	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9945783	0.95[CEU][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9947206	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9948282	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9949494	1.00[CEU][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9951624	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9952469	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9952654	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9956574	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9959813	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9959905	0.93[CEU][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9960378	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9963153	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9963843	1.00[CEU][hapmap];0.91[YRI][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4890633	C18orf25	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 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	chr18:43820600-43833400	Weak transcription	Ovary	ovary
5	chr18:43825400-43844200	Weak transcription	Fetal Brain Female	brain
6	chr18:43825800-43834000	Weak transcription	Liver	Liver
7	chr18:43826200-43840000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr18:43826600-43847000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr18:43826800-43843600	Weak transcription	Brain Germinal Matrix	brain
10	chr18:43828200-43839600	Weak transcription	Right Atrium	heart
11	chr18:43828400-43839600	Weak transcription	Fetal Stomach	stomach
12	chr18:43829200-43840400	Weak transcription	K562	blood
13	chr18:43829200-43842800	Weak transcription	Fetal Muscle Leg	muscle
14	chr18:43830000-43837600	Weak transcription	Left Ventricle	heart
15	chr18:43830000-43839400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:43830000-43854200	Weak transcription	Esophagus	oesophagus
17	chr18:43830400-43839600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:43830400-43842800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr18:43830600-43833400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:43830600-43833600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr18:43830600-43847400	Weak transcription	Pancreas	Pancrea
22	chr18:43830800-43839800	Weak transcription	Fetal Heart	heart
23	chr18:43830800-43842600	Weak transcription	Gastric	stomach
24	chr18:43831000-43833400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr18:43831000-43833600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr18:43831000-43833800	Weak transcription	Fetal Lung	lung
27	chr18:43831000-43834000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr18:43831000-43834000	Weak transcription	Brain Anterior Caudate	brain
29	chr18:43831000-43834000	Weak transcription	HUVEC	blood vessel
30	chr18:43831000-43834400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr18:43831000-43836800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr18:43831000-43839600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr18:43831000-43839600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr18:43831000-43839600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr18:43831000-43839800	Weak transcription	HSMMtube	muscle
36	chr18:43831000-43840000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr18:43831000-43840200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr18:43831000-43840200	Weak transcription	Brain Angular Gyrus	brain
39	chr18:43831000-43842800	Weak transcription	Small Intestine	intestine
40	chr18:43831000-43844600	Weak transcription	Spleen	Spleen
41	chr18:43831000-43851400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr18:43831200-43833400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr18:43831200-43833600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr18:43831200-43833800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr18:43831200-43834000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:43831200-43834200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:43831200-43834200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr18:43831200-43839400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr18:43831200-43840200	Weak transcription	Stomach Mucosa	stomach
50	chr18:43831200-43842800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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