Variant report

Variant	rs7915183
Chromosome Location	chr10:54761717-54761718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10508979	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10508980	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10824851	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003297	0.94[ASN][1000 genomes]
rs11003298	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11003300	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003301	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003305	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003306	0.97[EUR][1000 genomes]
rs11003307	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003308	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003309	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003311	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003313	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003314	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003316	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003317	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003318	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003319	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003320	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11003321	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11003322	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11003323	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11003324	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11003325	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11003326	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11003327	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11003328	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11592153	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11594477	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11594875	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594930	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11596013	0.91[EUR][1000 genomes]
rs11596708	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11598902	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12354890	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12355649	0.97[EUR][1000 genomes]
rs12356355	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12358058	0.83[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12359301	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1343049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1343050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1573146	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1573148	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16935928	1.00[JPT][hapmap]
rs16936072	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16936083	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16936094	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16936097	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16936108	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16936179	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936282	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936283	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091176	0.93[EUR][1000 genomes]
rs2384101	0.94[ASN][1000 genomes]
rs2384102	0.94[ASN][1000 genomes]
rs2891424	0.93[ASN][1000 genomes]
rs35747583	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4083148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4258288	0.94[ASN][1000 genomes]
rs4294491	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4403716	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4564234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4589197	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4611108	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4622164	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4636566	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56667843	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56999418	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59171053	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59605539	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59993736	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60635951	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61134451	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61387465	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61844531	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7074652	0.93[EUR][1000 genomes]
rs7084055	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086840	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7475455	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7893356	0.94[ASN][1000 genomes]
rs7893527	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7894017	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7894623	0.94[ASN][1000 genomes]
rs7894718	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7896118	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7899425	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7899454	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7899582	0.97[EUR][1000 genomes]
rs7900326	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7903815	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7905190	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7905634	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7906006	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7906107	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7907039	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7910673	0.94[ASN][1000 genomes]
rs7912023	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7912367	0.96[EUR][1000 genomes]
rs7912728	0.97[EUR][1000 genomes]
rs7914381	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7914999	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7915769	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7917355	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918032	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918282	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7921542	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7921965	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7923744	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9787467	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9787531	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9787652	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895404	chr10:54545590-54850707	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv831877	chr10:54565135-54764638	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1043809	chr10:54645158-54860817	Enhancers Active TSS Weak transcription Flanking 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	nsv540627	chr10:54645158-54860817	Weak transcription Enhancers 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
5	nsv467201	chr10:54697623-54929003	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv550906	chr10:54697623-54929003	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv470939	chr10:54700783-54917339	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv467202	chr10:54735164-54830687	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv550907	chr10:54735164-54830687	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7915183	ERCC6	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54734600-54764600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:54755800-54764400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:54757200-54766400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr10:54758200-54762800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr10:54759800-54767200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr10:54760200-54765800	Weak transcription	Stomach Mucosa	stomach
7	chr10:54760800-54764400	Weak transcription	HepG2	liver
8	chr10:54760800-54764800	Weak transcription	Liver	Liver
9	chr10:54760800-54765600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:54761000-54764800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:54761000-54766000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr10:54761600-54762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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