Variant report

Variant	rs4704701
Chromosome Location	chr5:80418627-80418628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13155331	0.83[AFR][1000 genomes]
rs13170314	1.00[ASN][1000 genomes]
rs13187343	1.00[ASN][1000 genomes]
rs16878383	1.00[YRI][hapmap]
rs17210066	1.00[ASN][1000 genomes]
rs17211275	1.00[ASN][1000 genomes]
rs36084289	1.00[ASN][1000 genomes]
rs4703823	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4704698	1.00[ASN][1000 genomes]
rs6869328	1.00[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4704701	WDR41	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80375000-80422600	Weak transcription	Left Ventricle	heart
2	chr5:80383400-80421600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr5:80401600-80421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:80401800-80420200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:80401800-80420600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:80404800-80428200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:80407000-80428000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:80408800-80426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:80409800-80422600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:80410600-80419600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:80410600-80421600	Weak transcription	Brain Substantia Nigra	brain
12	chr5:80410600-80432400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:80410600-80446600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:80411200-80427800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:80411800-80421800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:80413400-80424800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:80414000-80421200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:80414200-80438000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:80415200-80421200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:80415400-80419400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:80415600-80421600	Weak transcription	Ovary	ovary
22	chr5:80416000-80423400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:80416600-80422800	Enhancers	Liver	Liver
24	chr5:80417000-80418800	Enhancers	Adipose Nuclei	Adipose
25	chr5:80417000-80419800	Enhancers	Brain Germinal Matrix	brain
26	chr5:80417600-80418800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:80417600-80419600	Weak transcription	Fetal Intestine Small	intestine
28	chr5:80417600-80419800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:80417600-80421200	Weak transcription	HepG2	liver
30	chr5:80417800-80418800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:80417800-80427200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:80417800-80428800	Weak transcription	Right Atrium	heart
33	chr5:80417800-80436200	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:80418000-80421800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:80418200-80419400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:80418200-80419600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr5:80418200-80421200	Weak transcription	Brain Anterior Caudate	brain
38	chr5:80418200-80424400	Strong transcription	Primary T cells from cord blood	blood
39	chr5:80418200-80424400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr5:80418400-80419200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr5:80418400-80443800	Weak transcription	Brain Angular Gyrus	brain
42	chr5:80418600-80420200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:80418600-80421000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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