Variant report

Variant	rs10486521
Chromosome Location	chr7:33238200-33238201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:33228994..33231017-chr7:33236127..33239068,2	K562	blood:
2	chr7:33237252..33238973-chr7:33242666..33244868,2	K562	blood:
3	chr7:33237473..33239165-chr7:33243368..33246191,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10251272	0.84[CEU][hapmap]
rs10253342	1.00[ASW][hapmap];0.84[CEU][hapmap]
rs10268593	0.84[CEU][hapmap]
rs10273634	1.00[ASW][hapmap];0.84[CEU][hapmap]
rs12668888	0.84[CEU][hapmap]
rs12673354	1.00[ASW][hapmap];0.84[CEU][hapmap]
rs1420150	0.84[CEU][hapmap]
rs17170176	0.82[CEU][hapmap]
rs17396229	1.00[ASW][hapmap];0.94[CEU][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17398251	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17398949	0.82[CEU][hapmap]
rs17473365	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17475325	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17475728	1.00[ASW][hapmap];0.84[CEU][hapmap]
rs17476738	1.00[ASW][hapmap];0.84[CEU][hapmap]
rs17477108	1.00[GIH][hapmap]
rs17786463	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs2109525	0.83[CEU][hapmap];0.87[GIH][hapmap];0.88[MEX][hapmap]
rs2110767	1.00[ASW][hapmap];0.84[CEU][hapmap]
rs73095309	0.89[EUR][1000 genomes]
rs73095315	0.85[EUR][1000 genomes]
rs73095326	0.87[EUR][1000 genomes]
rs73095361	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73095378	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73097241	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73097258	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73097292	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73099226	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73099251	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7793719	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1796696	chr7:33236199-33243642	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10486521	CRHR2	cis	cerebellum	SCAN
rs10486521	NPSR1	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33217000-33239200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:33217800-33252400	Weak transcription	Aorta	Aorta
3	chr7:33218200-33252200	Weak transcription	Left Ventricle	heart
4	chr7:33230800-33248000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:33231200-33238200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:33236200-33240200	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:33236400-33239800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:33236400-33240000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:33236400-33244400	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:33236400-33247800	Weak transcription	Fetal Heart	heart
11	chr7:33236600-33239800	Weak transcription	Osteobl	bone
12	chr7:33236800-33249200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:33237000-33239000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:33238200-33238400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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