Variant report

Variant	rs62367397
Chromosome Location	chr5:80313876-80313877
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80312638..80314887-chr5:80409746..80411334,2	K562	blood:

Variant related genes	Relation type
ENSG00000249772	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16878303	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878325	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878328	1.00[ASN][1000 genomes]
rs55733183	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62367373	0.90[ASN][1000 genomes]
rs62367398	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73766157	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv830360	chr5:80283278-80446040	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv4897	chr5:80284196-80330223	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80300400-80316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:80300400-80318400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:80303000-80318200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:80303800-80314400	Weak transcription	HepG2	liver
5	chr5:80305000-80315000	Weak transcription	Left Ventricle	heart
6	chr5:80305200-80318200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:80309800-80317000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:80311000-80317400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:80311600-80315000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr5:80311600-80323800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr5:80311600-80325400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr5:80311800-80314400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:80311800-80314400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr5:80312000-80315800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:80312200-80316200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:80312200-80316400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:80312200-80323600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:80312800-80314200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:80312800-80314400	Enhancers	Brain Cingulate Gyrus	brain
20	chr5:80312800-80315400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr5:80312800-80320000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr5:80313200-80316400	Weak transcription	Fetal Stomach	stomach
23	chr5:80313400-80314200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:80313400-80314200	Weak transcription	Brain Substantia Nigra	brain
25	chr5:80313400-80315000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:80313400-80315000	Weak transcription	Fetal Lung	lung
27	chr5:80313400-80316600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:80313400-80318200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:80313400-80319400	Weak transcription	Brain Angular Gyrus	brain
30	chr5:80313600-80318400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:80313800-80314200	Weak transcription	Primary T cells from cord blood	blood
32	chr5:80313800-80314200	Weak transcription	Brain Hippocampus Middle	brain

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