Variant report

Variant	rs11207918
Chromosome Location	chr1:62649582-62649583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10889296	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1112561	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11207919	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12133047	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2366315	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2457823	0.87[ASN][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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv461650	chr1:62542717-62657530	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv546417	chr1:62542717-62657530	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv870842	chr1:62644118-62679202	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv546418	chr1:62646182-62656809	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11207918	L1TD1	cis	Thyroid	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62640600-62651200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr1:62646600-62660400	Weak transcription	Right Atrium	heart
3	chr1:62646800-62649600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:62647400-62649600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:62647600-62649800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:62647800-62650400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:62648400-62649800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:62648400-62649800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:62648600-62649600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr1:62649000-62649600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:62649000-62649600	Enhancers	Fetal Thymus	thymus
12	chr1:62649000-62649800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:62649000-62649800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:62649000-62649800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:62649000-62649800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:62649000-62649800	Enhancers	Placenta	Placenta
17	chr1:62649000-62649800	Enhancers	Fetal Stomach	stomach
18	chr1:62649000-62650400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr1:62649200-62649800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:62649200-62649800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:62649200-62650400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:62649400-62649800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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