Variant report

Variant	rs4859440
Chromosome Location	chr4:77195732-77195733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:77195567-77195954	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77071127..77073816-chr4:77194296..77196061,2	K562	blood:
2	chr4:77194005..77196231-chr4:77197210..77198929,2	MCF-7	breast:

Variant related genes	Relation type
FAM47E	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11097313	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11097314	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11933305	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11934863	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11946806	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12643334	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13119644	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13123108	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13151765	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1441909	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1441910	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1441911	0.84[ASN][1000 genomes]
rs1441912	0.84[ASN][1000 genomes]
rs1441913	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1441914	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1530296	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1530297	0.88[ASN][1000 genomes]
rs1530298	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1583944	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17236158	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17308336	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1876536	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1876537	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1876538	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1876539	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1876540	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1876541	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1876542	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1876543	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1969148	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1969149	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2869870	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2869871	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2869872	0.84[ASN][1000 genomes]
rs3733250	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3733253	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3821980	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4859439	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4859441	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4859650	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4859651	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4859654	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4859655	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4859656	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4859657	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59864739	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60397621	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60876302	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61595008	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6823078	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs736634	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs736636	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7665023	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs768979	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs768981	0.84[ASN][1000 genomes]
rs7699714	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs964051	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461559	chr4:77192838-77204500	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv594695	chr4:77192838-77204500	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4859440	FAM47E	cis	Thyroid	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77173600-77202000	Weak transcription	Psoas Muscle	Psoas
2	chr4:77173800-77196000	Weak transcription	Adipose Nuclei	Adipose
3	chr4:77173800-77215800	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:77177800-77199200	Weak transcription	Placenta	Placenta
5	chr4:77178800-77201200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:77180000-77202000	Weak transcription	Gastric	stomach
7	chr4:77186400-77204200	Weak transcription	Aorta	Aorta
8	chr4:77186600-77196200	Weak transcription	Fetal Intestine Large	intestine
9	chr4:77186600-77196800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:77186600-77215000	Weak transcription	Brain Anterior Caudate	brain
11	chr4:77187000-77196000	Weak transcription	Fetal Intestine Small	intestine
12	chr4:77187600-77202000	Weak transcription	Brain Substantia Nigra	brain
13	chr4:77188000-77202200	Weak transcription	Brain Angular Gyrus	brain
14	chr4:77188200-77202000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:77190400-77199200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:77191800-77199400	Enhancers	Liver	Liver
17	chr4:77192600-77212200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:77192800-77197200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:77193000-77201800	Weak transcription	Left Ventricle	heart
20	chr4:77193000-77202000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:77193000-77202200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:77194000-77204200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:77194200-77216400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:77194400-77195800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:77195000-77200200	Enhancers	HepG2	liver
26	chr4:77195200-77197000	Enhancers	Stomach Mucosa	stomach
27	chr4:77195400-77199400	Weak transcription	Rectal Mucosa Donor 31	rectum

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