Variant report

Variant	rs4859650
Chromosome Location	chr4:77188132-77188133
allele	A/G
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	BHLHE40	chr4:77187870-77188133	K562	blood:	n/a	n/a

Variant related genes	Relation type
FAM47E	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11097313	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097314	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933305	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11934863	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11946806	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12643261	0.86[ASN][1000 genomes]
rs12643334	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12651582	0.86[ASN][1000 genomes]
rs13119644	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13122345	0.89[ASN][1000 genomes]
rs13123108	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13137733	0.89[ASN][1000 genomes]
rs13151765	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1441909	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1441910	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1441913	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1441914	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1530296	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1530298	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1583944	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17236158	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17308336	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876536	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876537	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876538	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1876539	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1876540	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1876541	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1876542	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1876543	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1969148	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1969149	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2119731	0.82[ASN][1000 genomes]
rs2119732	0.82[ASN][1000 genomes]
rs2869863	0.89[ASN][1000 genomes]
rs2869864	0.89[ASN][1000 genomes]
rs2869865	0.82[ASN][1000 genomes]
rs2869866	0.82[ASN][1000 genomes]
rs2869870	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2869871	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34034456	0.82[ASN][1000 genomes]
rs34638846	0.89[ASN][1000 genomes]
rs3733250	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3733253	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3821980	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859439	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859440	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4859441	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4859651	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859652	0.87[ASN][1000 genomes]
rs4859653	0.85[ASN][1000 genomes]
rs4859654	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859655	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859656	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859657	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56060342	0.87[ASN][1000 genomes]
rs58804635	0.87[ASN][1000 genomes]
rs59864739	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60397621	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60876302	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61595008	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6813980	0.82[ASN][1000 genomes]
rs6814195	0.82[ASN][1000 genomes]
rs6823078	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6849069	0.82[ASN][1000 genomes]
rs6851219	0.89[ASN][1000 genomes]
rs71607346	0.89[ASN][1000 genomes]
rs736634	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs736636	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7665023	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7677256	0.87[ASN][1000 genomes]
rs7687964	0.87[ASN][1000 genomes]
rs768979	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7699714	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs964051	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4859650	FAM47E	cis	Thyroid	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77173600-77202000	Weak transcription	Psoas Muscle	Psoas
2	chr4:77173800-77191400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:77173800-77196000	Weak transcription	Adipose Nuclei	Adipose
4	chr4:77173800-77215800	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:77177800-77199200	Weak transcription	Placenta	Placenta
6	chr4:77178800-77201200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:77180000-77202000	Weak transcription	Gastric	stomach
8	chr4:77182000-77194600	Weak transcription	Stomach Mucosa	stomach
9	chr4:77182400-77193400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:77183200-77193000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:77185000-77188600	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr4:77185000-77189000	Weak transcription	Right Ventricle	heart
13	chr4:77185000-77192600	Weak transcription	Left Ventricle	heart
14	chr4:77185200-77188600	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:77185400-77189000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:77186000-77188200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:77186000-77188400	Enhancers	HepG2	liver
18	chr4:77186400-77188600	Enhancers	K562	blood
19	chr4:77186400-77204200	Weak transcription	Aorta	Aorta
20	chr4:77186600-77196200	Weak transcription	Fetal Intestine Large	intestine
21	chr4:77186600-77196800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:77186600-77215000	Weak transcription	Brain Anterior Caudate	brain
23	chr4:77187000-77188400	Weak transcription	Pancreas	Pancrea
24	chr4:77187000-77191600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:77187000-77196000	Weak transcription	Fetal Intestine Small	intestine
26	chr4:77187200-77189200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:77187600-77202000	Weak transcription	Brain Substantia Nigra	brain
28	chr4:77187800-77193800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:77188000-77190000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:77188000-77191800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:77188000-77202200	Weak transcription	Brain Angular Gyrus	brain

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