Variant report

Variant	rs10244055
Chromosome Location	chr7:126180249-126180250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	7:126177569-126189146..7:127225864-127233104	GM12878	blood:
2	7:126177569-126189146..7:127221502-127225864	Hela-S3	cervix:
3	7:126177569-126189146..7:127233104-127239235	K562	blood:
4	7:126177569-126189146..7:126756671-126761022	K562	blood:
5	7:126177569-126189146..7:127070190-127076279	Hela-S3	cervix:
6	7:126177569-126189146..7:126890676-126899918	K562	blood:

Variant related genes	Relation type
ENSG00000004059	Chromatin interaction
ENSG00000048405	Chromatin interaction
ENSG00000106328	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000179603	Chromatin interaction

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

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

rs_ID	r²[population]
rs10256067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10954120	0.80[EUR][1000 genomes]
rs11486997	0.84[EUR][1000 genomes]
rs11971474	0.80[EUR][1000 genomes]
rs11981877	0.81[EUR][1000 genomes]
rs12154335	0.83[EUR][1000 genomes]
rs12666621	0.86[CEU][hapmap]
rs12674181	0.80[EUR][1000 genomes]
rs1361990	0.80[EUR][1000 genomes]
rs1419494	0.81[EUR][1000 genomes]
rs1419495	0.81[EUR][1000 genomes]
rs1419497	0.80[EUR][1000 genomes]
rs1419498	0.80[EUR][1000 genomes]
rs1468098	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1468155	0.86[CEU][hapmap]
rs17607415	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17609121	0.83[EUR][1000 genomes]
rs17610345	0.80[EUR][1000 genomes]
rs17680718	0.92[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17682143	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17682178	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17682376	0.84[EUR][1000 genomes]
rs17682883	0.82[EUR][1000 genomes]
rs17683130	0.81[EUR][1000 genomes]
rs17683331	0.80[EUR][1000 genomes]
rs1858952	0.82[EUR][1000 genomes]
rs1946112	0.83[EUR][1000 genomes]
rs2041167	0.92[CEU][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs2237733	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2237735	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237736	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs2237737	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237738	0.81[EUR][1000 genomes]
rs2237739	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237741	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237742	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237743	0.81[EUR][1000 genomes]
rs2237745	0.80[EUR][1000 genomes]
rs2283064	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs2283065	0.92[CEU][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs2283066	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2283067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299446	0.92[CEU][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2299449	0.92[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299452	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299457	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299458	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299463	0.82[EUR][1000 genomes]
rs2299465	0.82[EUR][1000 genomes]
rs2299466	0.81[EUR][1000 genomes]
rs2299467	0.81[EUR][1000 genomes]
rs2299468	0.80[EUR][1000 genomes]
rs2299470	0.80[EUR][1000 genomes]
rs2299472	0.80[EUR][1000 genomes]
rs2402816	0.83[EUR][1000 genomes]
rs2839994	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2896372	0.81[EUR][1000 genomes]
rs35260564	0.80[EUR][1000 genomes]
rs4141361	0.80[EUR][1000 genomes]
rs55832333	0.82[EUR][1000 genomes]
rs56065814	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58153158	0.82[EUR][1000 genomes]
rs62479315	0.84[EUR][1000 genomes]
rs62479317	0.82[EUR][1000 genomes]
rs62479321	0.81[EUR][1000 genomes]
rs62479325	0.80[EUR][1000 genomes]
rs6467085	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6949287	0.92[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6956988	1.00[JPT][hapmap]
rs6980438	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728226	0.92[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7455156	0.83[EUR][1000 genomes]
rs766239	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs766240	0.92[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7776779	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7786175	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs8180772	0.80[EUR][1000 genomes]
rs916615	0.88[ASN][1000 genomes]
rs917405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641795	0.80[EUR][1000 genomes]
rs9641796	0.81[EUR][1000 genomes]
rs9641797	0.83[EUR][1000 genomes]
rs9641798	0.82[EUR][1000 genomes]
rs9641799	0.80[EUR][1000 genomes]
rs9641800	0.80[EUR][1000 genomes]
rs9942592	0.84[EUR][1000 genomes]
rs9942596	0.80[EUR][1000 genomes]
rs9942680	0.84[EUR][1000 genomes]
rs9942681	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1023465	chr7:125873329-126191422	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1028204	chr7:125897362-126225444	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv539118	chr7:125897362-126225444	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv521803	chr7:126149319-126219766	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10244055	TMEM209	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126176000-126188000	Weak transcription	Left Ventricle	heart

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