Variant report

Variant	rs2242041
Chromosome Location	chr7:50529449-50529450
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50525809..50527390-chr7:50527778..50530476,2	K562	blood:
2	chr7:50517207..50520150-chr7:50528801..50531186,2	MCF-7	breast:
3	chr7:50527491..50529507-chr7:50534060..50535878,2	K562	blood:

Variant related genes	Relation type
ENSG00000132437	Chromatin interaction
ENSG00000132436	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10268819	1.00[JPT][hapmap]
rs1037350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499696	1.00[JPT][hapmap]
rs1107742	0.93[ASN][1000 genomes]
rs1107743	0.90[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.93[ASN][1000 genomes]
rs11575282	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11575286	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11575298	1.00[JPT][hapmap]
rs11575313	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11575321	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11575322	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11575338	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs11575342	1.00[JPT][hapmap]
rs11575349	0.87[ASN][1000 genomes]
rs11575404	1.00[JPT][hapmap]
rs11575410	0.93[ASN][1000 genomes]
rs11575442	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11575521	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575548	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]
rs11575553	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[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771818	1.00[JPT][hapmap]
rs11976368	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978591	1.00[ASN][1000 genomes]
rs1349491	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1466163	1.00[JPT][hapmap]
rs1470748	0.93[ASN][1000 genomes]
rs17133817	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133826	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17553036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17553791	1.00[JPT][hapmap]
rs17634476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17634717	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17634771	1.00[JPT][hapmap]
rs17634958	0.90[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17635123	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2100279	0.87[ASN][1000 genomes]
rs2122817	0.88[CHB][hapmap];0.93[ASN][1000 genomes]
rs2329367	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2329369	0.93[ASN][1000 genomes]
rs2715126	1.00[JPT][hapmap]
rs2876826	0.83[ASN][1000 genomes]
rs2876830	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3177656	1.00[JPT][hapmap]
rs34672220	0.86[ASN][1000 genomes]
rs35399233	0.86[ASN][1000 genomes]
rs3779081	0.93[ASN][1000 genomes]
rs3807553	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4602840	0.93[ASN][1000 genomes]
rs56056130	1.00[ASN][1000 genomes]
rs61016409	0.86[ASN][1000 genomes]
rs6944090	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs6959427	0.95[ASN][1000 genomes]
rs6962370	0.82[ASN][1000 genomes]
rs71018475	0.81[ASN][1000 genomes]
rs73117270	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73119230	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73119239	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73119245	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73119251	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73121271	0.93[ASN][1000 genomes]
rs73121282	0.91[ASN][1000 genomes]
rs73121285	0.91[ASN][1000 genomes]
rs73121287	0.91[ASN][1000 genomes]
rs73121290	0.91[ASN][1000 genomes]
rs73121292	0.91[ASN][1000 genomes]
rs73123220	0.87[ASN][1000 genomes]
rs73123247	0.87[ASN][1000 genomes]
rs73123249	0.87[ASN][1000 genomes]
rs73123251	0.87[ASN][1000 genomes]
rs73123254	0.87[ASN][1000 genomes]
rs73123257	0.87[ASN][1000 genomes]
rs73123261	0.87[ASN][1000 genomes]
rs73123264	0.87[ASN][1000 genomes]
rs73123266	0.87[ASN][1000 genomes]
rs73123283	0.84[ASN][1000 genomes]
rs73123285	0.84[ASN][1000 genomes]
rs73123291	0.84[ASN][1000 genomes]
rs73125208	0.82[ASN][1000 genomes]
rs73125215	0.82[ASN][1000 genomes]
rs73125225	0.82[ASN][1000 genomes]
rs73695642	1.00[ASN][1000 genomes]
rs73695660	1.00[ASN][1000 genomes]
rs73695663	1.00[ASN][1000 genomes]
rs7455944	0.86[ASN][1000 genomes]
rs7777600	0.81[CHB][hapmap]
rs7797772	0.86[ASN][1000 genomes]
rs896308	0.93[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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2242041	ASXL1	trans	cerebellum	SCAN
rs2242041	GRB10	cis	cerebellum	SCAN

Chromatin state (count:10 , 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	chr7:50524800-50530000	Weak transcription	Liver	Liver
6	chr7:50528800-50533800	Strong transcription	Duodenum Mucosa	Duodenum
7	chr7:50528800-50535400	Weak transcription	Colonic Mucosa	Colon
8	chr7:50529200-50529600	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr7:50529200-50535600	Strong transcription	Fetal Intestine Large	intestine
10	chr7:50529400-50529800	Strong transcription	Rectal Mucosa Donor 29	rectum

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