Variant report

Variant	rs4720630
Chromosome Location	chr7:5477922-5477923
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5464652..5471172-chr7:5477153..5483738,12	K562	blood:
2	chr7:5475109..5477453-chr7:5477525..5481426,4	K562	blood:

Variant related genes	Relation type
ENSG00000273084	Chromatin interaction
ENSG00000182095	Chromatin interaction
ENSG00000272953	Chromatin interaction
ENSG00000234432	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10281574	1.00[JPT][hapmap]
rs12155102	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724676	0.80[ASN][1000 genomes]
rs6975264	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh 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 miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
5	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
6	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
7	nsv533965	chr7:5370746-5548397	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
8	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
9	nsv887401	chr7:5393243-5539958	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
10	nsv887402	chr7:5394951-5494677	Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
12	nsv887405	chr7:5409059-5552436	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
13	nsv887406	chr7:5414602-5552436	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
14	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
15	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
16	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
17	nsv508443	chr7:5447283-5501122	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
18	nsv526194	chr7:5452756-5592436	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases
19	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
20	nsv984498	chr7:5469767-5506036	Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	nsv887409	chr7:5477922-5539958	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5470000-5481400	Weak transcription	HSMMtube	muscle
2	chr7:5470200-5481000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:5470200-5491800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:5470400-5480800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:5470400-5481200	Weak transcription	Colonic Mucosa	Colon
6	chr7:5470400-5497600	Weak transcription	Right Atrium	heart
7	chr7:5470600-5479800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:5470600-5488000	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:5471600-5487400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:5472200-5479000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:5473000-5479800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:5473200-5478000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:5473200-5479000	Weak transcription	Gastric	stomach
14	chr7:5473200-5480400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:5473200-5481200	Weak transcription	Left Ventricle	heart
16	chr7:5473200-5485600	Weak transcription	Pancreas	Pancrea
17	chr7:5473200-5485800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:5473200-5485800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:5473200-5486000	Weak transcription	Stomach Mucosa	stomach
20	chr7:5473200-5486400	Weak transcription	Primary T cells from cord blood	blood
21	chr7:5473200-5491200	Weak transcription	Hela-S3	cervix
22	chr7:5473200-5497200	Weak transcription	Right Ventricle	heart
23	chr7:5473400-5486000	Weak transcription	A549	lung
24	chr7:5475800-5478000	Strong transcription	Osteobl	bone
25	chr7:5476200-5481800	Weak transcription	NHEK	skin
26	chr7:5476400-5478000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr7:5476400-5478000	ZNF genes & repeats	Fetal Stomach	stomach
28	chr7:5476800-5478000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:5476800-5478000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr7:5476800-5478200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:5477000-5478200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:5477000-5478200	ZNF genes & repeats	Spleen	Spleen
33	chr7:5477200-5478200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:5477200-5480200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:5477200-5480400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:5477400-5478000	Genic enhancers	Stomach Smooth Muscle	stomach
37	chr7:5477400-5478200	Enhancers	Esophagus	oesophagus
38	chr7:5477400-5478200	Enhancers	Fetal Lung	lung
39	chr7:5477400-5479000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:5477400-5479000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:5477400-5479600	Enhancers	Fetal Heart	heart
42	chr7:5477400-5479800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr7:5477400-5483600	Weak transcription	Brain Angular Gyrus	brain
44	chr7:5477400-5485800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:5477600-5478000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:5477600-5478000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr7:5477600-5478000	Enhancers	HepG2	liver
48	chr7:5477600-5478400	Enhancers	Ovary	ovary
49	chr7:5477600-5479800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:5477600-5480600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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