Variant report

Variant	rs12649919
Chromosome Location	chr4:7086275-7086276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7084172..7086960-chr4:7087354..7090208,2	K562	blood:
2	chr4:7086060..7087996-chr4:7103709..7106625,2	K562	blood:
3	chr4:7083964..7086960-chr4:7088708..7091240,2	K562	blood:

Variant related genes	Relation type
ENSG00000245468	Chromatin interaction

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

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

rs_ID	r²[population]
rs10026946	0.99[ASN][1000 genomes]
rs6446566	0.99[ASN][1000 genomes]
rs6446567	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655574	0.96[ASN][1000 genomes]
rs907526	0.84[ASN][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	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv878534	chr4:7084985-7121880	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7085800-7086400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
2	chr4:7085800-7086400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
3	chr4:7085800-7086600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
4	chr4:7085800-7086600	Active TSS	A549	lung
5	chr4:7085800-7087000	Enhancers	Ovary	ovary
6	chr4:7086000-7086400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:7086000-7086400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
8	chr4:7086000-7086400	Flanking Active TSS	Liver	Liver
9	chr4:7086000-7086400	Bivalent/Poised TSS	Colonic Mucosa	Colon
10	chr4:7086000-7086400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr4:7086000-7086400	Enhancers	Pancreas	Pancrea
12	chr4:7086000-7086400	Active TSS	Hela-S3	cervix
13	chr4:7086000-7086400	Bivalent/Poised TSS	NHEK	skin
14	chr4:7086000-7086600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:7086000-7086800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr4:7086000-7086800	Active TSS	HepG2	liver
17	chr4:7086200-7086400	Active TSS	Right Atrium	heart
18	chr4:7086200-7086800	Active TSS	Duodenum Mucosa	Duodenum
19	chr4:7086200-7086800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr4:7086200-7086800	Enhancers	Stomach Mucosa	stomach
21	chr4:7086200-7087000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr4:7086200-7087000	Active TSS	K562	blood

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