Variant report

Variant	rs61977537
Chromosome Location	chr14:70822718-70822719
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	EBF1	chr14:70822532-70822742	GM12878	blood:	n/a	chr14:70822616-70822627
2	USF1	chr14:70822454-70822812	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70821384..70823705-chr14:70824702..70826435,2	K562	blood:
2	chr14:70821384..70823164-chr14:70824935..70826619,2	K562	blood:
3	chr14:70820880..70823895-chr14:70824846..70827747,4	MCF-7	breast:

Variant related genes	Relation type
RNU2-51P	TF binding region
ENSG00000222640	Chromatin interaction
ENSG00000133983	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1044527	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11158855	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11623974	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11626325	0.88[ASN][1000 genomes]
rs12146968	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12147722	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12147825	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12433355	0.95[ASN][1000 genomes]
rs12588244	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12589335	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12590679	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12879801	0.82[ASN][1000 genomes]
rs12887715	0.88[ASN][1000 genomes]
rs12890415	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2332372	0.85[ASN][1000 genomes]
rs2332373	0.83[ASN][1000 genomes]
rs2332421	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34802428	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35164282	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35186208	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35469188	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35671518	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35859016	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759774	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61977542	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61977552	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7141407	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7143274	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7144424	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7152898	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8005362	0.82[ASN][1000 genomes]
rs8014520	0.88[ASN][1000 genomes]
rs8015005	0.85[ASN][1000 genomes]
rs8015988	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8016060	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8021180	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61977537	C14orf112	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70792800-70825200	Weak transcription	NH-A	brain
2	chr14:70800000-70825000	Weak transcription	HSMM	muscle
3	chr14:70800800-70824800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:70801200-70824200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr14:70801200-70825200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:70801800-70824400	Weak transcription	NHDF-Ad	bronchial
7	chr14:70802000-70824800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:70802000-70824800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:70802400-70824800	Weak transcription	Brain Anterior Caudate	brain
10	chr14:70802600-70824800	Weak transcription	Brain Substantia Nigra	brain
11	chr14:70805000-70825200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:70806400-70823600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:70806600-70825200	Weak transcription	Fetal Kidney	kidney
14	chr14:70806800-70825600	Weak transcription	Small Intestine	intestine
15	chr14:70807800-70825200	Weak transcription	A549	lung
16	chr14:70811400-70824400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:70811600-70825000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:70812000-70824600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:70813000-70823600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:70813000-70823600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:70813200-70825200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:70813200-70825400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:70813400-70823600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:70813400-70824800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:70813400-70825800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:70813600-70825400	Weak transcription	Placenta	Placenta
27	chr14:70813800-70823200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:70814600-70824000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:70814800-70825200	Weak transcription	Stomach Mucosa	stomach
30	chr14:70815000-70825200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:70815200-70824000	Weak transcription	Fetal Brain Female	brain
32	chr14:70815600-70825000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:70816000-70824800	Weak transcription	Primary B cells from cord blood	blood
34	chr14:70816200-70825200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:70816400-70824200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:70816600-70824400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:70816800-70824800	Weak transcription	Brain Germinal Matrix	brain
38	chr14:70817000-70824400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:70817000-70825800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:70817200-70823400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:70817200-70824400	Weak transcription	Fetal Intestine Small	intestine
42	chr14:70817200-70824800	Weak transcription	Fetal Intestine Large	intestine
43	chr14:70817200-70825000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:70817200-70825000	Weak transcription	Fetal Muscle Leg	muscle
45	chr14:70817200-70825200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr14:70817200-70825200	Weak transcription	Fetal Stomach	stomach
47	chr14:70817400-70824400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:70817400-70824800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:70817400-70824800	Weak transcription	Primary T cells from cord blood	blood
50	chr14:70817400-70825000	Weak transcription	Primary hematopoietic stem cells	blood

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