Variant report

Variant	rs248993
Chromosome Location	chr5:80394515-80394516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs26419	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs424196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	nsv882232	chr5:80393949-80436584	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80375000-80422600	Weak transcription	Left Ventricle	heart
2	chr5:80375200-80401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:80375800-80400400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:80377000-80401000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr5:80382800-80400600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:80383200-80409800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:80383200-80413600	Weak transcription	Ovary	ovary
8	chr5:80383400-80400600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:80383400-80408400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:80383400-80414800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:80383400-80421600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:80383600-80400800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:80383600-80409000	Weak transcription	Adipose Nuclei	Adipose
14	chr5:80383600-80412600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:80383800-80400600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:80384200-80400600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:80387800-80395400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr5:80388400-80394600	Strong transcription	HepG2	liver
19	chr5:80388600-80397000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:80389000-80400600	Weak transcription	Brain Substantia Nigra	brain
21	chr5:80390200-80400400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:80390200-80400800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:80390600-80409200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:80392400-80394600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:80392400-80394600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:80392600-80408200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:80393600-80395200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:80394000-80417000	Weak transcription	NHLF	lung
29	chr5:80394200-80397200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:80394200-80408200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:80394400-80394600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:80394400-80394600	Enhancers	Brain Hippocampus Middle	brain
33	chr5:80394400-80394600	Enhancers	Lung	lung
34	chr5:80394400-80395400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:80394400-80400600	Weak transcription	Primary T cells from cord blood	blood

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