Variant report

Variant	rs72991248
Chromosome Location	chr11:74445243-74445244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MBD4	chr11:74444568-74445268	HepG2	liver:	n/a	n/a
2	MAX	chr11:74444531-74445246	HepG2	liver:	n/a	n/a
3	NFIC	chr11:74444690-74445247	HepG2	liver:	n/a	n/a
4	RXRA	chr11:74444757-74445293	HepG2	liver:	n/a	n/a
5	MAX	chr11:74444534-74445425	HepG2	liver:	n/a	n/a
6	NR2F2	chr11:74444652-74445431	HepG2	liver:	n/a	n/a
7	FOXA1	chr11:74444649-74445413	HepG2	liver:	n/a	n/a
8	MYBL2	chr11:74444584-74445258	HepG2	liver:	n/a	n/a
9	FOXA2	chr11:74444745-74445311	HepG2	liver:	n/a	n/a
10	HDAC2	chr11:74444659-74445311	HepG2	liver:	n/a	n/a
11	FOXA1	chr11:74444702-74445329	HepG2	liver:	n/a	n/a
12	CEBPB	chr11:74444848-74445301	HepG2	liver:	n/a	n/a
13	EP300	chr11:74444682-74445350	HepG2	liver:	n/a	n/a
14	MBD4	chr11:74444620-74445253	HepG2	liver:	n/a	n/a
15	TEAD4	chr11:74444462-74445347	HepG2	liver:	n/a	n/a
16	EP300	chr11:74444647-74445408	HepG2	liver:	n/a	n/a
17	HDAC2	chr11:74444776-74445311	HepG2	liver:	n/a	n/a
18	FOXA1	chr11:74444627-74445379	HepG2	liver:	n/a	n/a
19	NR2F2	chr11:74444530-74445492	HepG2	liver:	n/a	n/a
20	FOXA2	chr11:74444692-74445525	HepG2	liver:	n/a	n/a
21	ARID3A	chr11:74444619-74445314	HepG2	liver:	n/a	n/a
22	NFIC	chr11:74444722-74445280	HepG2	liver:	n/a	n/a
23	MYBL2	chr11:74444549-74445416	HepG2	liver:	n/a	n/a
24	HNF4A	chr11:74444783-74445256	HepG2	liver:	n/a	chr11:74444917-74444932
25	JUND	chr11:74444754-74445309	HepG2	liver:	n/a	n/a
26	FOXA1	chr11:74444749-74445360	HepG2	liver:	n/a	n/a
27	SP1	chr11:74444610-74445407	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74443489..74448156-chr11:74456515..74460463,6	K562	blood:
2	chr11:74438602..74440295-chr11:74445038..74446669,2	K562	blood:
3	chr11:74440192..74442895-chr11:74445109..74448883,3	MCF-7	breast:

No data

Variant related genes	Relation type
CHRDL2	TF binding region
ENSG00000227615	Chromatin interaction
ENSG00000166439	Chromatin interaction
ENSG00000054938	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12805108	1.00[AFR][1000 genomes]
rs67772345	1.00[AFR][1000 genomes]
rs71465927	1.00[AFR][1000 genomes]
rs72979222	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72983223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72988507	1.00[AFR][1000 genomes]
rs72988510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72989331	1.00[AFR][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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74443400-74446200	Weak transcription	Spleen	Spleen
2	chr11:74444600-74445600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:74444800-74445600	Enhancers	A549	lung
4	chr11:74445000-74445400	Flanking Active TSS	HepG2	liver

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