Variant report

Variant	rs7522628
Chromosome Location	chr1:184414948-184414949
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184408982..184410504-chr1:184414765..184417443,2	MCF-7	breast:
2	chr1:184414246..184415782-chr1:184418306..184420936,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10157833	0.94[ASN][1000 genomes]
rs10158710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10489721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10489722	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10752935	0.93[CHB][hapmap]
rs10797966	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10911593	0.83[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap]
rs10911594	0.81[CEU][hapmap]
rs11802306	0.96[ASN][1000 genomes]
rs11805001	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11810399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11811039	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12048492	0.83[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap]
rs12057850	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12058294	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12063210	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12070712	0.83[CEU][hapmap]
rs12093839	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1535135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16823101	0.83[CEU][hapmap]
rs16823149	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1969686	0.94[ASN][1000 genomes]
rs2207522	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3916684	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3930803	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4233119	0.83[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap]
rs4326589	0.83[CEU][hapmap]
rs4518858	0.83[CEU][hapmap];0.93[CHB][hapmap]
rs57024489	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57790643	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58462114	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59369289	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61823506	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61823538	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61823539	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61823542	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61823543	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61823546	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6424948	0.83[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap]
rs6424949	0.83[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap]
rs6424950	0.83[CEU][hapmap]
rs6656089	0.90[ASN][1000 genomes]
rs6657105	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6657254	0.90[ASN][1000 genomes]
rs6660217	0.83[CEU][hapmap]
rs6666696	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6696161	0.81[CEU][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap]
rs6696270	0.80[CEU][hapmap]
rs72735678	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7415961	0.83[CEU][hapmap]
rs7537725	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540361	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7522628	RALGPS2	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184390600-184422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:184396200-184418800	Weak transcription	NHEK	skin
3	chr1:184396200-184419000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
5	chr1:184398800-184418800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:184402600-184417400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:184403000-184423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:184406000-184422200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:184407800-184419000	Weak transcription	Right Ventricle	heart
10	chr1:184408600-184421200	Weak transcription	Stomach Mucosa	stomach
11	chr1:184410600-184422000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:184412800-184430200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:184413000-184420800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:184413000-184426600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:184413000-184429600	Weak transcription	Brain Angular Gyrus	brain
16	chr1:184413200-184417400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:184413200-184418800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:184413200-184419000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:184413200-184419200	Weak transcription	Left Ventricle	heart
20	chr1:184413200-184419200	Weak transcription	Right Atrium	heart
21	chr1:184413200-184422000	Weak transcription	Fetal Stomach	stomach
22	chr1:184413200-184424800	Weak transcription	Fetal Heart	heart
23	chr1:184413200-184430000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:184413800-184417600	Weak transcription	Psoas Muscle	Psoas
25	chr1:184414000-184415400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:184414400-184418800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:184414400-184419000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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