Variant report

Variant	rs73817219
Chromosome Location	chr4:56501055-56501056
allele	A/T
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	chr4:56500956-56501829	K562	blood:	n/a	n/a
2	TBL1XR1	chr4:56499512-56501926	K562	blood:	n/a	n/a
3	MAZ	chr4:56500668-56501074	K562	blood:	n/a	n/a
4	RCOR1	chr4:56500802-56503942	K562	blood:	n/a	n/a
5	REST	chr4:56500830-56504009	H1-neurons	neurons:	n/a	chr4:56502226-56502236
6	IRF1	chr4:56500752-56501984	K562	blood:	n/a	chr4:56501094-56501106
7	POLR2A	chr4:56499394-56503785	K562	blood:	n/a	n/a
8	POLR2A	chr4:56500485-56503059	Raji	blood:	n/a	n/a
9	UBTF	chr4:56500856-56503073	K562	blood:	n/a	n/a
10	POLR2A	chr4:56500954-56501066	K562	blood:	n/a	n/a
11	POLR2A	chr4:56499543-56503922	K562	blood:	n/a	n/a
12	POLR2A	chr4:56499874-56503767	K562	blood:	n/a	n/a
13	MXI1	chr4:56500616-56503285	SK-N-SH	brain:	n/a	n/a
14	RCOR1	chr4:56500831-56501196	K562	blood:	n/a	n/a
15	POLR2A	chr4:56499478-56502006	K562	blood:	n/a	n/a
16	POLR2A	chr4:56499765-56503986	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56500129..56502345-chr4:56579313..56582236,2	K562	blood:

Variant related genes	Relation type
NMU	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55862824	0.89[AFR][1000 genomes]
rs6815413	1.00[AMR][1000 genomes]
rs73817218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73817221	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73817222	0.95[AFR][1000 genomes];1.00[AMR][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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56499800-56501400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:56500000-56501200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:56500000-56501600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:56500600-56501200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr4:56500600-56501600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
6	chr4:56500600-56501600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
7	chr4:56500600-56501600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
8	chr4:56500600-56501800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
9	chr4:56500800-56501200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:56500800-56501600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
11	chr4:56500800-56502600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr4:56501000-56501200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:56501000-56501200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr4:56501000-56501200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:56501000-56501200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:56501000-56501200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:56501000-56501200	Enhancers	Esophagus	oesophagus
18	chr4:56501000-56501200	Enhancers	NHEK	skin
19	chr4:56501000-56501400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:56501000-56501400	Active TSS	Brain Germinal Matrix	brain
21	chr4:56501000-56501400	Bivalent Enhancer	Thymus	Thymus
22	chr4:56501000-56501600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
23	chr4:56501000-56501600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:56501000-56501600	Transcr. at gene 5' and 3'	K562	blood
25	chr4:56501000-56503000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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