Variant report

Variant	rs58762563
Chromosome Location	chr5:61582194-61582195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61581288..61583777-chr5:61597562..61600246,2	K562	blood:
2	chr5:61570576..61576152-chr5:61577980..61582631,7	K562	blood:
3	chr5:61558370..61559977-chr5:61580738..61582579,2	K562	blood:
4	chr5:61581120..61583166-chr5:61590441..61591948,2	MCF-7	breast:
5	chr5:61580058..61581807-chr5:61582180..61584252,2	K562	blood:
6	chr5:61555924..61558214-chr5:61579881..61582380,2	K562	blood:
7	chr5:61579949..61585428-chr5:61600379..61606921,7	K562	blood:

Variant related genes	Relation type
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10056974	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10061970	0.98[EUR][1000 genomes]
rs1108159	0.98[EUR][1000 genomes]
rs16890608	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17381617	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3776613	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55721963	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55822651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55951418	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61388866	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73760588	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73760590	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv830318	chr5:61415713-61623320	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv2755585	chr5:61535831-61618595	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61579400-61583000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:61580200-61582800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:61580400-61582800	Weak transcription	Fetal Intestine Large	intestine
4	chr5:61580400-61585000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:61580600-61582800	Weak transcription	Placenta	Placenta
6	chr5:61581000-61582200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr5:61581000-61583400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr5:61581000-61584200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:61581200-61583000	Weak transcription	Primary T cells from cord blood	blood
10	chr5:61581400-61582200	ZNF genes & repeats	K562	blood
11	chr5:61581400-61587000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:61581600-61582200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr5:61581600-61582800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:61581600-61582800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:61581800-61582800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr5:61581800-61582800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:61581800-61582800	Weak transcription	Esophagus	oesophagus
18	chr5:61581800-61587200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:61582000-61582400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:61582000-61582400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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