Variant report

Variant	rs11575548
Chromosome Location	chr7:50530309-50530310
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr7:50530067-50530390	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:50530045..50531842-chr7:50534711..50537256,2	K562	blood:
2	chr7:50525809..50527390-chr7:50527778..50530476,2	K562	blood:
3	chr7:50517207..50520150-chr7:50528801..50531186,2	MCF-7	breast:

Variant related genes	Relation type
DDC	TF binding region
ENSG00000132437	Chromatin interaction
ENSG00000132436	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10268819	1.00[JPT][hapmap]
rs1037350	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10499691	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10499696	1.00[JPT][hapmap]
rs1107742	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1107743	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11575282	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11575286	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11575298	1.00[JPT][hapmap]
rs11575313	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11575321	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11575322	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11575338	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11575342	1.00[JPT][hapmap]
rs11575349	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11575404	1.00[JPT][hapmap]
rs11575410	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11575442	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11575521	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11575553	0.90[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11575562	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11771818	1.00[JPT][hapmap]
rs11976368	0.98[ASN][1000 genomes]
rs11978591	0.98[ASN][1000 genomes]
rs1349491	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1466163	1.00[JPT][hapmap]
rs1470748	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17133817	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17133826	0.98[ASN][1000 genomes]
rs17553036	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17553791	1.00[JPT][hapmap]
rs17634476	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17634717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17634771	1.00[JPT][hapmap]
rs17634958	1.00[ASW][hapmap];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];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17635123	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2100279	0.89[ASN][1000 genomes]
rs2122817	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242041	0.90[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2329367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2329369	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2715126	1.00[JPT][hapmap]
rs2876826	0.85[ASN][1000 genomes]
rs2876830	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3177656	1.00[JPT][hapmap]
rs34672220	0.88[ASN][1000 genomes]
rs35399233	0.88[ASN][1000 genomes]
rs3779081	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3779084	0.82[CHB][hapmap]
rs3807550	1.00[ASW][hapmap];0.80[CHB][hapmap]
rs3807551	1.00[ASW][hapmap];0.80[CHB][hapmap]
rs3807553	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4602840	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56056130	0.98[ASN][1000 genomes]
rs61016409	0.88[ASN][1000 genomes]
rs6944090	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs6959427	0.93[ASN][1000 genomes]
rs6962370	0.84[ASN][1000 genomes]
rs71018475	0.83[ASN][1000 genomes]
rs73117270	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73119230	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73119239	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73119245	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73119251	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73121271	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73121282	0.93[ASN][1000 genomes]
rs73121285	0.93[ASN][1000 genomes]
rs73121287	0.93[ASN][1000 genomes]
rs73121290	0.93[ASN][1000 genomes]
rs73121292	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73123220	0.89[ASN][1000 genomes]
rs73123247	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73123249	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73123251	0.89[ASN][1000 genomes]
rs73123254	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73123257	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73123261	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73123264	0.89[ASN][1000 genomes]
rs73123266	0.89[ASN][1000 genomes]
rs73123283	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73123285	0.86[ASN][1000 genomes]
rs73123291	0.86[ASN][1000 genomes]
rs73125208	0.84[ASN][1000 genomes]
rs73125215	0.84[ASN][1000 genomes]
rs73125225	0.84[ASN][1000 genomes]
rs73695642	0.98[ASN][1000 genomes]
rs73695660	0.98[ASN][1000 genomes]
rs73695663	0.98[ASN][1000 genomes]
rs7455944	0.88[ASN][1000 genomes]
rs7777600	0.90[CHB][hapmap];0.84[CHD][hapmap];0.81[ASN][1000 genomes]
rs7797772	0.88[ASN][1000 genomes]
rs880028	0.82[CHB][hapmap]
rs896308	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9656664	0.80[CHB][hapmap]

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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1026081	chr7:50525900-50538184	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11575548	GRB10	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50518800-50535400	Weak transcription	Pancreas	Pancrea
2	chr7:50518800-50535600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:50518800-50535600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:50518800-50535600	Weak transcription	HepG2	liver
5	chr7:50528800-50533800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr7:50528800-50535400	Weak transcription	Colonic Mucosa	Colon
7	chr7:50529200-50535600	Strong transcription	Fetal Intestine Large	intestine
8	chr7:50529600-50535400	Strong transcription	Fetal Intestine Small	intestine
9	chr7:50529800-50530600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:50530000-50530400	Enhancers	HUVEC	blood vessel
11	chr7:50530000-50531000	Enhancers	Hela-S3	cervix
12	chr7:50530000-50533200	Strong transcription	Liver	Liver

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