Variant report

Variant	rs11714714
Chromosome Location	chr3:150984316-150984317
allele	C/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	SPI1	chr3:150983439-150984361	GM12878	blood:	n/a	chr3:150983886-150983899 chr3:150983884-150983893 chr3:150983887-150983900 chr3:150983887-150983900 chr3:150983888-150983897

Variant related genes	Relation type
SETP11	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10212582	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1048408	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10513392	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11717955	0.88[ASN][1000 genomes]
rs11719936	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12330831	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12488267	0.96[ASN][1000 genomes]
rs12494865	0.84[ASN][1000 genomes]
rs1317465	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1352886	0.82[ASN][1000 genomes]
rs1472122	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1565574	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16863323	0.84[ASN][1000 genomes]
rs16863334	0.84[ASN][1000 genomes]
rs16863336	0.82[ASN][1000 genomes]
rs1844924	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1882014	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1882015	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1882017	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1920396	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28371419	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28497341	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2904430	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4076581	0.84[ASN][1000 genomes]
rs4475010	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4679772	0.81[AMR][1000 genomes]
rs4679783	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56105302	0.84[ASN][1000 genomes]
rs56367650	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58334126	0.88[ASN][1000 genomes]
rs62283021	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6765215	0.85[ASN][1000 genomes]
rs6768130	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6782313	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6807308	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6809692	0.82[EUR][1000 genomes]
rs73021201	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7617677	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7621113	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7621183	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7621211	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7623448	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7653603	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180086	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9757688	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9810067	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9815520	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9827619	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9828553	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9829753	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9853297	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9870740	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9875152	0.84[EUR][1000 genomes];0.85[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	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2754555	chr3:150968302-151054302	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150974400-150987600	Weak transcription	Aorta	Aorta
2	chr3:150977800-151000000	Weak transcription	Placenta	Placenta
3	chr3:150979400-150987600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:150981200-150984400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:150981400-150984600	Enhancers	Fetal Stomach	stomach
6	chr3:150981400-150986800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr3:150981600-150986800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:150981800-150986400	Enhancers	Rectal Smooth Muscle	rectum
9	chr3:150981800-150994000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:150982000-150984800	Enhancers	Brain Anterior Caudate	brain
11	chr3:150982000-150985200	Enhancers	Primary hematopoietic stem cells	blood
12	chr3:150982400-150984800	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:150982400-150985000	Enhancers	Stomach Smooth Muscle	stomach
14	chr3:150982600-150984600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:150982600-150984600	Enhancers	Fetal Muscle Leg	muscle
16	chr3:150982800-150984800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:150982800-150986200	Weak transcription	Stomach Mucosa	stomach
18	chr3:150983000-151011000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:150983400-150984600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:150983400-150984600	Enhancers	GM12878-XiMat	blood
21	chr3:150983400-150984800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:150983600-150984400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:150983600-150984400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:150983600-150984600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:150983600-150984600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:150983600-150984800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:150983600-150987600	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:150983800-150984400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:150983800-150984600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:150983800-150984800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:150983800-150984800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr3:150983800-150985400	Enhancers	Fetal Lung	lung
33	chr3:150983800-150986400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:150983800-150986400	Weak transcription	Adipose Nuclei	Adipose
35	chr3:150983800-150989400	Enhancers	Primary B cells from cord blood	blood
36	chr3:150983800-151000600	Weak transcription	Brain Substantia Nigra	brain
37	chr3:150984000-150984600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:150984000-150984600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:150984000-150986800	Weak transcription	Fetal Thymus	thymus
40	chr3:150984000-150996000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:150984200-150984400	Enhancers	Colon Smooth Muscle	Colon
42	chr3:150984200-150984600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:150984200-150984800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr3:150984200-150998800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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