Variant report

Variant	rs1969149
Chromosome Location	chr4:77203043-77203044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77202480..77205980-chr4:77226274..77229049,3	MCF-7	breast:
2	chr4:77068994..77070621-chr4:77200458..77203318,2	K562	blood:

Variant related genes	Relation type
ENSG00000138750	Chromatin interaction
ENSG00000118804	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1036788	0.84[ASN][1000 genomes]
rs11097313	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11097314	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11097320	0.84[ASN][1000 genomes]
rs11933305	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11934863	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11946806	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12643334	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13119644	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13123108	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13151765	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1441909	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1441910	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1441913	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1441914	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1441916	0.84[ASN][1000 genomes]
rs1530295	0.84[ASN][1000 genomes]
rs1530296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530297	0.96[ASN][1000 genomes]
rs1530298	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1583944	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17236158	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17308336	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1876536	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1876537	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1876538	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1876539	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1876540	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1876541	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1876542	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1876543	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1969148	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2869870	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2869871	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3733250	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3733253	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3821980	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4370157	0.84[ASN][1000 genomes]
rs4859439	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4859440	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4859441	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4859650	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4859651	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4859654	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4859655	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4859656	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4859657	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4859658	0.84[ASN][1000 genomes]
rs59864739	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60397621	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60876302	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61595008	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6823078	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs736634	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs736636	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7665023	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs768979	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7699714	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs964051	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][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
rs1969149	FAM47E	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77173800-77215800	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:77186400-77204200	Weak transcription	Aorta	Aorta
3	chr4:77186600-77215000	Weak transcription	Brain Anterior Caudate	brain
4	chr4:77192600-77212200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:77194000-77204200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:77194200-77216400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:77199800-77203600	Enhancers	Liver	Liver
8	chr4:77199800-77204200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:77201400-77203600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr4:77201400-77204400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:77201400-77205800	Enhancers	Fetal Intestine Large	intestine
12	chr4:77201600-77204600	Enhancers	Fetal Heart	heart
13	chr4:77202400-77203600	Weak transcription	Placenta	Placenta
14	chr4:77202400-77203600	Weak transcription	Gastric	stomach
15	chr4:77202400-77204200	Weak transcription	Colonic Mucosa	Colon
16	chr4:77202400-77204200	Weak transcription	Right Atrium	heart
17	chr4:77202400-77204200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:77202400-77205000	Weak transcription	Pancreas	Pancrea
19	chr4:77202400-77206200	Weak transcription	Psoas Muscle	Psoas
20	chr4:77202400-77217000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:77202400-77221000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:77202600-77204200	Weak transcription	Fetal Intestine Small	intestine
23	chr4:77202600-77204200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:77203000-77204000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:77203000-77204000	Weak transcription	Stomach Mucosa	stomach
26	chr4:77203000-77204200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:77203000-77214600	Weak transcription	Adipose Nuclei	Adipose

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