Variant report

Variant	rs4728558
Chromosome Location	chr7:84327114-84327115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:84316486..84318065-chr7:84325058..84327513,2	K562	blood:
2	chr7:84315326..84318065-chr7:84325058..84327523,3	K562	blood:
3	chr7:84319553..84321871-chr7:84324252..84327875,3	K562	blood:
4	chr7:84325930..84329136-chr7:84329688..84332999,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10225298	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10225557	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10253819	1.00[EUR][1000 genomes]
rs10274814	1.00[EUR][1000 genomes]
rs10499881	1.00[EUR][1000 genomes]
rs1318546	1.00[EUR][1000 genomes]
rs1406341	1.00[EUR][1000 genomes]
rs1583146	1.00[EUR][1000 genomes]
rs1594395	1.00[EUR][1000 genomes]
rs17159213	1.00[EUR][1000 genomes]
rs17159219	1.00[EUR][1000 genomes]
rs17159404	1.00[EUR][1000 genomes]
rs1811353	1.00[EUR][1000 genomes]
rs1864526	1.00[EUR][1000 genomes]
rs1897156	1.00[EUR][1000 genomes]
rs1997302	1.00[EUR][1000 genomes]
rs2293574	1.00[EUR][1000 genomes]
rs4128623	0.91[ASN][1000 genomes]
rs4236672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4283991	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4283992	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4286890	1.00[EUR][1000 genomes]
rs4338048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4549716	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4551285	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4563832	0.90[ASN][1000 genomes]
rs4595076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4621727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4623351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4732572	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4732574	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4732580	0.91[AMR][1000 genomes]
rs4732583	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4732584	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4732585	0.90[ASN][1000 genomes]
rs4732587	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4732590	1.00[EUR][1000 genomes]
rs4732591	1.00[EUR][1000 genomes]
rs58836788	1.00[EUR][1000 genomes]
rs59138424	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61463020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73710992	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv888635	chr7:84086502-84344258	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv888636	chr7:84117594-84334498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1031149	chr7:84144990-84404356	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv888638	chr7:84158180-84334498	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv888639	chr7:84158180-84344258	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv888640	chr7:84168615-84334498	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv888641	chr7:84168615-84453100	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1031328	chr7:84182356-84377593	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1016221	chr7:84183142-84377593	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv521668	chr7:84186159-84346026	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv888643	chr7:84196258-84453100	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1019814	chr7:84208284-84369045	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv2762684	chr7:84218035-84444871	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv831047	chr7:84231938-84408081	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv888644	chr7:84253690-84386060	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv831049	chr7:84277599-84475710	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84321000-84331400	Weak transcription	Aorta	Aorta
2	chr7:84326000-84327600	Enhancers	NH-A	brain
3	chr7:84326000-84327800	Enhancers	Hela-S3	cervix
4	chr7:84326000-84329200	Enhancers	Osteobl	bone
5	chr7:84326000-84330400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:84326200-84327200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:84326200-84327800	Enhancers	NHDF-Ad	bronchial
8	chr7:84326200-84328000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:84326400-84327200	Enhancers	A549	lung
10	chr7:84326400-84327400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:84326400-84327400	Enhancers	HUVEC	blood vessel
12	chr7:84326600-84327600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:84326600-84330800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:84326800-84327200	Enhancers	NHEK	skin
15	chr7:84326800-84327400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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