Variant report

Variant	rs73159312
Chromosome Location	chr13:30511808-30511809
allele	C/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	CEBPB	chr13:30511582-30511877	K562	blood:	n/a	n/a
2	CEBPB	chr13:30511560-30511858	A549	lung:	n/a	n/a
3	CEBPB	chr13:30511553-30511891	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr13:30511534-30511907	HepG2	liver:	n/a	n/a
5	CEBPB	chr13:30511550-30511889	IMR90	lung:	n/a	n/a
6	CEBPB	chr13:30511632-30511860	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30508008..30510755-chr13:30510923..30512750,2	MCF-7	breast:

Variant related genes	Relation type
LINC00544	TF binding region
ENSG00000122043	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10492460	1.00[EUR][1000 genomes]
rs605446	1.00[EUR][1000 genomes]
rs606744	0.82[ASN][1000 genomes]
rs73159322	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159324	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr13:30498800-30513200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:30509000-30512600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr13:30509400-30512800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr13:30509800-30515000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr13:30510200-30512000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:30510400-30515000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:30510600-30512000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:30510600-30512800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr13:30510600-30512800	Enhancers	Thymus	Thymus
10	chr13:30510600-30513000	Enhancers	Fetal Thymus	thymus
11	chr13:30510800-30512000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:30510800-30521600	Weak transcription	Pancreas	Pancrea
13	chr13:30511000-30512200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr13:30511000-30513000	Enhancers	Primary T cells from cord blood	blood
15	chr13:30511000-30513000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr13:30511200-30513000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr13:30511400-30512400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr13:30511600-30512000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr13:30511600-30513400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr13:30511600-30514000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr13:30511600-30514400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:30511600-30514800	Weak transcription	Liver	Liver
23	chr13:30511800-30512200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr13:30511800-30512200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr13:30511800-30514400	Enhancers	Primary T helper cells fromperipheralblood	blood

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