Variant report

Variant	rs7693991
Chromosome Location	chr4:48279375-48279376
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	chr4:48270379..48272614-chr4:48278296..48280074,2	K562	blood:
2	chr4:48274201..48276645-chr4:48276828..48280429,3	K562	blood:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10433686	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10433724	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11724334	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11732570	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11932069	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934137	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12499189	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13143606	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1509655	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs170145	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1828297	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1848742	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1912162	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2036766	0.82[ASN][1000 genomes]
rs2136503	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2353304	0.81[EUR][1000 genomes]
rs2664024	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664027	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2704409	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs309883	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs309891	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs309892	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs368292	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs373720	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs379323	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs430599	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4529022	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694892	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56041079	0.83[EUR][1000 genomes]
rs56063319	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58166553	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58372912	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59349478	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59741528	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62309361	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62309362	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62311478	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62311498	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6447626	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447627	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6836661	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6840958	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6852406	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6858850	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7657451	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659044	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7665958	0.84[EUR][1000 genomes]
rs7666809	0.84[EUR][1000 genomes]
rs7688059	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48273200-48279400	Weak transcription	Primary T cells from cord blood	blood
2	chr4:48273400-48281600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:48273600-48279400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:48273800-48281600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:48277400-48287400	Weak transcription	K562	blood
6	chr4:48278600-48280000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:48279200-48279800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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