Variant report

Variant	rs61268630
Chromosome Location	chr5:120278464-120278465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11241576	0.80[EUR][1000 genomes]
rs11952917	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11953153	0.98[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12516120	0.82[ASN][1000 genomes]
rs12518346	0.82[ASN][1000 genomes]
rs12518419	0.82[ASN][1000 genomes]
rs12521537	0.86[ASN][1000 genomes]
rs17147116	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2897365	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3213799	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4588614	0.87[ASN][1000 genomes]
rs4895291	0.87[ASN][1000 genomes]
rs56688867	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58052785	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs58158108	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6595277	0.97[ASN][1000 genomes]
rs6595280	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

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	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv599603	chr5:119953529-120317035	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv949415	chr5:119957645-120459183	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1030613	chr5:119980213-120301205	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3369974	chr5:120051746-120319085	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv882791	chr5:120100225-120293328	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1015280	chr5:120163808-120306848	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv1025157	chr5:120175806-120307539	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv882792	chr5:120183146-120296787	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv428125	chr5:120194868-120458466	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv882793	chr5:120208192-120296787	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv882794	chr5:120219340-120541488	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv599606	chr5:120219340-120776767	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1028476	chr5:120232873-120525748	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1030983	chr5:120243702-120366034	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv508377	chr5:120251229-120305261	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	nsv1033169	chr5:120267543-120525748	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv537887	chr5:120267543-120525748	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv526730	chr5:120270505-120301076	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
20	nsv527585	chr5:120270505-120542415	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv2422297	chr5:120274195-120330473	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120273400-120289200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:120277400-120278800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:120277400-120279000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:120277400-120279000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:120277600-120278600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr5:120277600-120278600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:120277600-120279000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:120277600-120279400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:120277600-120279400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:120277800-120278800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:120277800-120279000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:120277800-120280200	Enhancers	Dnd41	blood
13	chr5:120278200-120278600	Enhancers	HMEC	breast
14	chr5:120278400-120279000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:120278400-120279200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:120278400-120279600	Enhancers	Fetal Lung	lung

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