Variant report

Variant	rs11729111
Chromosome Location	chr4:56498798-56498799
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr4:56498736-56499200	K562	blood:	n/a	n/a
2	REST	chr4:56498794-56499123	K562	blood:	n/a	chr4:56498979-56498993 chr4:56498985-56498994 chr4:56498980-56498998 chr4:56498979-56498999
3	POLR2A	chr4:56497931-56499073	K562	blood:	n/a	n/a
4	TBL1XR1	chr4:56498105-56499024	K562	blood:	n/a	n/a
5	POLR2A	chr4:56498609-56498833	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56407970..56411777-chr4:56498734..56501001,3	K562	blood:

Variant related genes	Relation type
NMU	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11133406	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11722402	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11722645	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11723011	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11727450	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11727729	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11727831	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11728776	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11734493	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11735358	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11735654	0.86[AMR][1000 genomes]
rs11735815	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12499085	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12500147	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12501006	0.84[EUR][1000 genomes]
rs12502173	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12503046	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12503479	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12506506	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12507525	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12508869	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12509559	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2412668	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35256215	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55665531	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55885309	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56096459	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56260406	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73236154	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73236155	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73236156	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73236157	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73236159	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73236160	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73236161	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73236162	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73236163	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73236164	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73236166	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236167	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73236168	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236171	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73236173	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73236174	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73236175	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73236178	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73236179	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73236181	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73236182	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73236183	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73236184	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73236185	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73236186	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73236187	1.00[AMR][1000 genomes];0.88[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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv998179	chr4:56425126-56694339	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv932636	chr4:56438618-56667329	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879021	chr4:56482750-56648713	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3393088	chr4:56484073-56503988	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3395811	chr4:56486113-56514675	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11729111	NMU	cis	Thyroid	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56493400-56500200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:56494000-56500600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:56495800-56499000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:56496200-56498800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:56498000-56499000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:56498000-56500200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:56498200-56498800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:56498200-56499000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:56498200-56499200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:56498200-56499800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:56498400-56499200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:56498400-56499600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:56498600-56499000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr4:56498600-56499600	Active TSS	K562	blood

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