Variant report

Variant	rs62277596
Chromosome Location	chr4:7430452-7430453
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7430206..7433720-chr4:7434978..7437884,3	K562	blood:

Variant related genes	Relation type
ENSG00000178597	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4302467	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4458454	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4470628	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1003679	chr4:7319111-7449262	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv469758	chr4:7370083-7546250	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878560	chr4:7402284-7475114	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv878561	chr4:7402284-7544610	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv878562	chr4:7414226-7438352	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv878563	chr4:7420785-7529367	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv878564	chr4:7421007-7535214	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
12	nsv878565	chr4:7421498-7455318	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv470008	chr4:7423034-7432577	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv461203	chr4:7423751-7434607	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv593572	chr4:7427899-7437364	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv461204	chr4:7427899-7438352	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7423200-7436200	Weak transcription	Right Atrium	heart
2	chr4:7426600-7431600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:7426600-7431800	Weak transcription	Esophagus	oesophagus
4	chr4:7427000-7438800	Weak transcription	Spleen	Spleen
5	chr4:7427200-7431400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:7427200-7431400	Weak transcription	HMEC	breast
7	chr4:7427400-7431400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:7428200-7433000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:7428400-7432400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:7428600-7433000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:7428600-7433000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:7428600-7433800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:7428800-7431000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:7429000-7431000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:7429000-7431600	Weak transcription	Right Ventricle	heart
16	chr4:7429200-7430600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:7429200-7430800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:7429200-7431400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:7429400-7432600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:7429600-7430600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:7429600-7432000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:7429800-7432000	Enhancers	Fetal Heart	heart
23	chr4:7429800-7432200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:7429800-7432600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:7429800-7434000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:7430000-7432400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:7430200-7431600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:7430400-7431400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:7430400-7431400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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