Variant report

Variant	rs11819148
Chromosome Location	chr10:54783054-54783055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:54782310..54784916-chr10:54787401..54789318,3	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10508984	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10740531	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10824856	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10824857	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10824859	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10824860	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11003335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11003336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11003339	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11003340	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11003341	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11003343	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11812875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12360114	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1917190	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1917194	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1917195	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1917196	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1917197	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1917205	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1949813	0.96[EUR][1000 genomes]
rs1949814	0.96[EUR][1000 genomes]
rs2066435	0.81[EUR][1000 genomes]
rs2248319	0.94[EUR][1000 genomes]
rs2248678	0.94[EUR][1000 genomes]
rs2253152	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2253266	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2253468	0.81[AMR][1000 genomes]
rs2264663	0.96[EUR][1000 genomes]
rs2265880	0.94[EUR][1000 genomes]
rs2462479	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2488605	0.81[EUR][1000 genomes]
rs2492354	0.88[EUR][1000 genomes]
rs2891426	0.89[EUR][1000 genomes]
rs7069155	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72800376	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72800377	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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
12	esv1829213	chr10:54780677-54788671	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv1832289	chr10:54780677-54788671	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv895406	chr10:54780677-54830687	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3505395	chr10:54781546-54785944	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv3523695	chr10:54782396-54790044	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv3506506	chr10:54782471-54785319	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv3507618	chr10:54782471-54785319	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv3509840	chr10:54782746-54790644	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv3523693	chr10:54782796-54789894	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11819148	RP11-319F12.2	cis	Thyroid	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54782000-54783400	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr10:54782000-54783600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr10:54782000-54783800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr10:54782200-54783200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:54782200-54783400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr10:54782200-54783600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr10:54782200-54784400	Enhancers	Fetal Kidney	kidney
8	chr10:54782400-54783400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr10:54782400-54783600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:54782400-54784000	Enhancers	Placenta	Placenta
11	chr10:54782400-54786000	Enhancers	Fetal Stomach	stomach
12	chr10:54782600-54783200	Enhancers	Stomach Mucosa	stomach
13	chr10:54782600-54783400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:54782600-54783400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:54782600-54783600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr10:54782600-54783600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr10:54782600-54783600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr10:54782600-54783600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:54782600-54783600	Enhancers	NHEK	skin
20	chr10:54782800-54783600	Enhancers	Fetal Intestine Small	intestine
21	chr10:54782800-54783600	Enhancers	Fetal Lung	lung
22	chr10:54782800-54783800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr10:54783000-54783200	Enhancers	Ovary	ovary
24	chr10:54783000-54783400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr10:54783000-54783600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr10:54783000-54783600	Enhancers	HUES6 Cell Line	embryonic stem cell

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