Variant report

Variant	rs7228553
Chromosome Location	chr18:30010986-30010987
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:30010280..30012190-chr18:30014297..30016244,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10438935	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10468833	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10468834	0.84[ASN][1000 genomes]
rs10468904	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10775451	0.93[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10853421	0.93[CEU][hapmap];0.81[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11081761	0.81[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11081762	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11081763	0.92[CEU][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11081764	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11081765	0.93[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11662168	0.85[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs11874614	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12604457	0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs13380944	0.90[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs13380968	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13381344	0.85[CEU][hapmap];0.93[GIH][hapmap];0.82[EUR][1000 genomes]
rs1350551	0.85[CHD][hapmap];0.81[MEX][hapmap];0.84[ASN][1000 genomes]
rs1380085	0.88[CHD][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs1458858	0.93[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1458865	0.93[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16963270	0.84[EUR][1000 genomes]
rs16963285	0.80[GIH][hapmap]
rs16963287	0.88[ASW][hapmap];0.93[GIH][hapmap];0.85[LWK][hapmap];0.84[TSI][hapmap];0.93[YRI][hapmap];0.81[EUR][1000 genomes]
rs16963381	1.00[CEU][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17744051	1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17744064	0.84[ASN][1000 genomes]
rs17744164	0.87[ASN][1000 genomes]
rs17811666	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17811690	0.85[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.87[ASN][1000 genomes]
rs17811714	0.84[ASN][1000 genomes]
rs17811798	0.84[ASN][1000 genomes]
rs1863605	0.84[ASN][1000 genomes]
rs1964517	0.83[EUR][1000 genomes]
rs2034968	0.93[GIH][hapmap];0.83[EUR][1000 genomes]
rs2052757	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2055060	0.93[CEU][hapmap];0.81[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2421462	0.93[CEU][hapmap];0.93[YRI][hapmap];0.90[EUR][1000 genomes]
rs41527551	0.93[GIH][hapmap];0.83[EUR][1000 genomes]
rs4561543	0.83[EUR][1000 genomes]
rs4597393	0.85[EUR][1000 genomes]
rs55941037	0.84[ASN][1000 genomes]
rs56808255	0.80[EUR][1000 genomes]
rs57978863	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60451418	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60928334	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61311884	0.84[ASN][1000 genomes]
rs6506968	0.93[CEU][hapmap];0.81[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7229026	0.92[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7233422	0.84[EUR][1000 genomes]
rs7243086	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7243481	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7243539	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245123	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72933532	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72933545	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs729691	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs729692	0.84[ASN][1000 genomes]
rs729693	0.84[ASN][1000 genomes]
rs7359734	0.93[CEU][hapmap];0.81[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73954814	0.83[ASN][1000 genomes]
rs8083848	1.00[CEU][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8087581	0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs8087781	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8089997	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs8091089	0.93[CEU][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8093474	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8093807	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8094711	0.87[ASN][1000 genomes]
rs8094914	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8096329	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8097263	0.93[GIH][hapmap];0.83[EUR][1000 genomes]
rs968177	0.93[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs968178	1.00[CEU][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9807749	0.84[ASN][1000 genomes]
rs982521	1.00[CEU][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7228553	DSG2	cis	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30001400-30018400	Weak transcription	Esophagus	oesophagus
2	chr18:30002400-30014800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:30002400-30017200	Weak transcription	Right Atrium	heart
4	chr18:30002400-30018200	Weak transcription	Psoas Muscle	Psoas
5	chr18:30005200-30018200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr18:30006200-30018200	Weak transcription	Pancreas	Pancrea
7	chr18:30006400-30014200	Weak transcription	Small Intestine	intestine
8	chr18:30006400-30016800	Weak transcription	Brain Angular Gyrus	brain
9	chr18:30007600-30017000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr18:30008600-30012400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:30008600-30017400	Weak transcription	Aorta	Aorta
12	chr18:30010200-30014800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr18:30010200-30015600	Weak transcription	Brain Hippocampus Middle	brain
14	chr18:30010400-30011000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr18:30010400-30011000	Enhancers	Brain Substantia Nigra	brain
16	chr18:30010600-30011000	Enhancers	Liver	Liver
17	chr18:30010600-30011000	Enhancers	Right Ventricle	heart
18	chr18:30010600-30011200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr18:30010800-30011200	Enhancers	Fetal Heart	heart
20	chr18:30010800-30017000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr18:30010800-30018200	Weak transcription	Left Ventricle	heart

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