Variant report

Variant	rs62291194
Chromosome Location	chr4:7083604-7083605
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6988557..6991384-chr4:7082218..7084511,2	K562	blood:
2	chr4:6716483..6718016-chr4:7082173..7084110,2	K562	blood:
3	chr4:6909042..6911543-chr4:7082329..7084821,2	MCF-7	breast:
4	chr4:7072207..7073029-chr4:7083508..7084401,3	MCF-7	breast:
5	chr4:6909277..6910126-chr4:7083535..7084268,3	MCF-7	breast:
6	chr4:7069661..7072296-chr4:7082175..7083844,2	K562	blood:

Variant related genes	Relation type
ENSG00000186222	Chromatin interaction
ENSG00000109519	Chromatin interaction
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10937781	0.85[EUR][1000 genomes]
rs13113578	0.85[EUR][1000 genomes]
rs28488694	0.88[EUR][1000 genomes]
rs3951347	0.85[EUR][1000 genomes]
rs4513569	0.85[EUR][1000 genomes]
rs4689063	0.81[EUR][1000 genomes]
rs4689582	0.81[EUR][1000 genomes]
rs4689588	0.85[EUR][1000 genomes]
rs62291192	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62291193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62291195	1.00[EUR][1000 genomes]
rs62291196	1.00[EUR][1000 genomes]
rs62291201	0.88[EUR][1000 genomes]
rs62291204	0.88[EUR][1000 genomes]
rs62291207	0.83[EUR][1000 genomes]
rs6814746	0.85[EUR][1000 genomes]
rs6816992	0.83[EUR][1000 genomes]
rs7666504	0.85[EUR][1000 genomes]
rs7699619	0.85[EUR][1000 genomes]
rs907522	0.85[EUR][1000 genomes]
rs907524	0.85[EUR][1000 genomes]
rs907525	0.85[EUR][1000 genomes]
rs9985704	0.85[EUR][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	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7071000-7086200	Weak transcription	Right Atrium	heart
2	chr4:7078200-7086000	Weak transcription	Pancreas	Pancrea
3	chr4:7078800-7085000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7082800-7084000	Enhancers	Fetal Brain Male	brain
5	chr4:7083000-7085000	Enhancers	K562	blood
6	chr4:7083200-7083800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr4:7083400-7083800	Enhancers	Fetal Heart	heart
8	chr4:7083400-7084000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr4:7083400-7084000	Enhancers	Right Ventricle	heart
10	chr4:7083600-7083800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
11	chr4:7083600-7083800	Bivalent Enhancer	NHEK	skin
12	chr4:7083600-7084000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:7083600-7084000	Enhancers	Stomach Mucosa	stomach
14	chr4:7083600-7084000	Enhancers	HSMMtube	muscle
15	chr4:7083600-7084200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
16	chr4:7083600-7084200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr4:7083600-7084200	Enhancers	HSMM	muscle

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