Variant report

Variant	rs1949814
Chromosome Location	chr10:54773042-54773043
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:54764008..54766836-chr10:54772750..54774326,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10508984	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10740531	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10824852	0.80[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.88[ASN][1000 genomes]
rs10824854	0.89[ASN][1000 genomes]
rs10824856	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10824857	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10824859	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs10824860	0.88[EUR][1000 genomes]
rs11003335	0.95[EUR][1000 genomes]
rs11003336	0.95[EUR][1000 genomes]
rs11003339	0.91[EUR][1000 genomes]
rs11003340	0.90[EUR][1000 genomes]
rs11003341	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs11003343	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs11812875	0.96[EUR][1000 genomes]
rs11819148	0.96[EUR][1000 genomes]
rs12360114	0.90[EUR][1000 genomes]
rs1343046	0.80[ASN][1000 genomes]
rs1343047	0.80[ASN][1000 genomes]
rs1343048	0.81[ASN][1000 genomes]
rs1418915	0.81[ASN][1000 genomes]
rs1418916	0.81[ASN][1000 genomes]
rs1539513	0.80[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.80[TSI][hapmap];0.82[ASN][1000 genomes]
rs1573147	0.91[ASN][1000 genomes]
rs1917190	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs1917194	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1917195	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1917196	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1917197	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1917205	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1935921	0.81[ASN][1000 genomes]
rs1935922	0.81[ASN][1000 genomes]
rs1949813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1984275	0.82[ASN][1000 genomes]
rs2066435	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2066437	0.83[ASN][1000 genomes]
rs2066438	0.83[ASN][1000 genomes]
rs2177608	0.86[ASN][1000 genomes]
rs2248319	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2248678	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253152	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2253266	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2264663	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2265880	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2462479	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2488605	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2492354	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2891425	0.80[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2891426	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7069155	0.96[EUR][1000 genomes]
rs7092980	0.80[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap];0.80[TSI][hapmap];0.81[ASN][1000 genomes]
rs72800376	0.90[EUR][1000 genomes]
rs72800377	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	esv1826571	chr10:54765608-54788821	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv895405	chr10:54765608-54824741	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv508585	chr10:54769376-54796804	Weak transcription Enhancers Active TSS Flanking 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
rs1949814	RP11-319F12.2	cis	Thyroid	GTEx
rs1949814	MSMB	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54765200-54782600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:54767600-54782200	Weak transcription	Fetal Kidney	kidney
3	chr10:54771600-54774800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr10:54772400-54773800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr10:54772600-54773600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:54772600-54774000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr10:54772800-54773400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr10:54772800-54773600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:54772800-54774000	Flanking Active TSS	GM12878-XiMat	blood
10	chr10:54772800-54774200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr10:54773000-54773400	Active TSS	Monocytes-CD14+_RO01746	blood

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