Variant report

Variant	rs114369939
Chromosome Location	chr4:7086184-7086185
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	chr4:7083980..7086191-chr4:7094533..7096477,2	K562	blood:
3	chr4:7086060..7087996-chr4:7103709..7106625,2	K562	blood:
4	chr4:7083964..7086960-chr4:7088708..7091240,2	K562	blood:

Variant related genes	Relation type
ENSG00000245468	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7071000-7086200	Weak transcription	Right Atrium	heart
2	chr4:7085400-7086200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
3	chr4:7085600-7086200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7085800-7086200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
5	chr4:7085800-7086200	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr4:7085800-7086200	Enhancers	K562	blood
7	chr4:7085800-7086400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr4:7085800-7086400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
9	chr4:7085800-7086600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
10	chr4:7085800-7086600	Active TSS	A549	lung
11	chr4:7085800-7087000	Enhancers	Ovary	ovary
12	chr4:7086000-7086200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr4:7086000-7086200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:7086000-7086200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr4:7086000-7086200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
16	chr4:7086000-7086400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:7086000-7086400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
18	chr4:7086000-7086400	Flanking Active TSS	Liver	Liver
19	chr4:7086000-7086400	Bivalent/Poised TSS	Colonic Mucosa	Colon
20	chr4:7086000-7086400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr4:7086000-7086400	Enhancers	Pancreas	Pancrea
22	chr4:7086000-7086400	Active TSS	Hela-S3	cervix
23	chr4:7086000-7086400	Bivalent/Poised TSS	NHEK	skin
24	chr4:7086000-7086600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:7086000-7086800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr4:7086000-7086800	Active TSS	HepG2	liver

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