Variant report

Variant	rs17475728
Chromosome Location	chr7:33308429-33308430
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:33306418..33309708-chr7:33313851..33316308,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10251272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253342	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10254276	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10265926	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10268593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10273634	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs10280367	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10486521	1.00[ASW][hapmap];0.84[CEU][hapmap]
rs10486524	0.90[CEU][hapmap];0.96[CHD][hapmap];0.80[MEX][hapmap]
rs12666246	0.81[CHB][hapmap]
rs12667345	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12668888	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12668971	0.83[GIH][hapmap]
rs12670765	0.81[CHB][hapmap]
rs12673354	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1420149	0.90[CEU][hapmap]
rs1420150	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17170170	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17170176	0.88[CEU][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs17394546	0.90[CEU][hapmap]
rs17396229	1.00[ASW][hapmap]
rs17398251	0.84[CEU][hapmap]
rs17473365	1.00[ASW][hapmap];0.84[CEU][hapmap]
rs17475325	0.84[CEU][hapmap]
rs17476738	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2110767	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[LWK][hapmap];0.86[MEX][hapmap];0.80[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs28560342	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3779241	0.81[CHB][hapmap]
rs4341064	0.80[ASN][1000 genomes]
rs4442031	0.87[YRI][hapmap]
rs4720108	0.90[CEU][hapmap]
rs58069881	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59066744	0.83[ASN][1000 genomes]
rs6462470	0.90[CHB][hapmap];0.82[CHD][hapmap]
rs6952538	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs6979138	0.81[CHB][hapmap]
rs73097268	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73097281	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7777122	0.81[CHB][hapmap]
rs7777332	0.83[GIH][hapmap]
rs7806498	0.90[CHB][hapmap];0.87[CHD][hapmap];0.80[ASN][1000 genomes]
rs9791453	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv916660	chr7:33272493-33506384	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1792546	chr7:33304218-33346932	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv887925	chr7:33304218-33361323	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17475728	CRHR2	cis	cerebellum	SCAN
rs17475728	NPSR1	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33283800-33316000	Weak transcription	Ovary	ovary
2	chr7:33288800-33317600	Weak transcription	Gastric	stomach
3	chr7:33289400-33309000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:33289600-33310800	Weak transcription	Psoas Muscle	Psoas
5	chr7:33290000-33316200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:33290800-33309000	Weak transcription	Fetal Stomach	stomach
7	chr7:33290800-33316400	Weak transcription	Aorta	Aorta
8	chr7:33291200-33316000	Weak transcription	Primary T cells from cord blood	blood
9	chr7:33297400-33310800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:33300400-33309800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:33302200-33317400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:33302600-33308800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:33305800-33317400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:33306000-33309000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:33306200-33316200	Weak transcription	Pancreas	Pancrea
16	chr7:33307200-33311000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:33307400-33308800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:33307600-33308800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:33307600-33315000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:33307800-33308600	Enhancers	Spleen	Spleen
21	chr7:33308200-33316000	Weak transcription	Left Ventricle	heart
22	chr7:33308200-33316200	Weak transcription	Lung	lung

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