Variant report

Variant	rs2593076
Chromosome Location	chr4:56812156-56812157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56411182..56412770-chr4:56812130..56814893,2	K562	blood:
2	chr4:56411270..56413465-chr4:56811598..56813630,2	K562	blood:
3	chr4:56812031..56813732-chr4:56817105..56819542,2	K562	blood:

Variant related genes	Relation type
ENSG00000272969	Chromatin interaction
ENSG00000134852	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2593072	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2702321	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2702322	0.97[ASN][1000 genomes]
rs4865043	0.81[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	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	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv964348	chr4:56782802-56815653	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56803800-56813400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:56804200-56812800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:56804400-56812600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr4:56805200-56812600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:56805200-56814600	Weak transcription	Spleen	Spleen
6	chr4:56805800-56812400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:56805800-56812600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:56807600-56812200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr4:56808000-56812600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:56808200-56812200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:56809600-56812600	Weak transcription	Left Ventricle	heart
12	chr4:56809800-56813800	Weak transcription	A549	lung
13	chr4:56810400-56814600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:56811200-56813200	Weak transcription	Primary T cells from cord blood	blood
15	chr4:56811600-56812600	Enhancers	Primary B cells from peripheral blood	blood
16	chr4:56811600-56813000	Flanking Active TSS	HUVEC	blood vessel
17	chr4:56811600-56813400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:56811800-56812400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:56811800-56813400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:56811800-56813800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:56812000-56812200	Enhancers	Primary B cells from cord blood	blood
22	chr4:56812000-56812200	Enhancers	GM12878-XiMat	blood
23	chr4:56812000-56813400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:56812000-56814800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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