Variant report

Variant	rs7717573
Chromosome Location	chr5:80319719-80319720
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80280624..80283430-chr5:80318817..80321662,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13176011	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872530	1.00[CHD][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7717573	WDR41	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80311600-80323800	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr5:80311600-80325400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr5:80312200-80323600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:80312800-80320000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:80314400-80320800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:80315200-80319800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr5:80316000-80321000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr5:80316200-80319800	Enhancers	Brain Substantia Nigra	brain
9	chr5:80316200-80320800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:80316400-80320000	Enhancers	Brain Cingulate Gyrus	brain
11	chr5:80316600-80321000	Enhancers	Brain Hippocampus Middle	brain
12	chr5:80316800-80322800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:80317000-80320200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:80317400-80321200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:80317400-80321400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr5:80317600-80319800	Enhancers	HepG2	liver
17	chr5:80318000-80320000	Enhancers	Primary T cells from cord blood	blood
18	chr5:80318000-80320000	Enhancers	Adipose Nuclei	Adipose
19	chr5:80318200-80319800	Weak transcription	Fetal Stomach	stomach
20	chr5:80318600-80322800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:80318600-80323600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:80318800-80320800	Weak transcription	Left Ventricle	heart
23	chr5:80319000-80319800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:80319000-80320000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr5:80319200-80320000	Enhancers	Brain Anterior Caudate	brain
26	chr5:80319400-80319800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:80319400-80319800	Enhancers	Brain Angular Gyrus	brain
28	chr5:80319400-80320000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:80319600-80320600	Weak transcription	Fetal Lung	lung
30	chr5:80319600-80321000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:80319600-80324200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:80319600-80374200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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