Variant report

Variant	rs45536240
Chromosome Location	chr14:69818297-69818298
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	SPI1	chr14:69818038-69818363	HL-60	blood:	n/a	n/a
2	SPI1	chr14:69818006-69818337	GM12878	blood:	n/a	n/a
3	MYC	chr14:69818002-69818375	NB4	blood:	n/a	n/a
4	MAX	chr14:69817963-69818466	NB4	blood:	n/a	n/a

Variant related genes	Relation type
GALNT16	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1010661	0.81[AMR][1000 genomes]
rs10130642	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10142738	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10148090	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11620664	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11622130	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11624753	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11624756	0.83[EUR][1000 genomes]
rs11626070	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11844803	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12185028	0.91[EUR][1000 genomes]
rs12385913	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17106979	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1952255	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2061088	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2168241	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28616724	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35286134	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36088452	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs57148905	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57675317	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57941356	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7143230	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7152301	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7155178	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72722198	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72722199	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72723815	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72723830	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72723840	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72723847	0.89[EUR][1000 genomes]
rs72723850	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8016618	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9630395	0.91[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	nsv456334	chr14:69793624-69831037	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv564966	chr14:69793624-69831037	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69793400-69818800	Weak transcription	Spleen	Spleen
2	chr14:69793400-69821200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:69793400-69822600	Weak transcription	Brain Angular Gyrus	brain
4	chr14:69800800-69821800	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:69803400-69820800	Weak transcription	Esophagus	oesophagus
6	chr14:69806200-69818400	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:69807000-69821000	Weak transcription	Fetal Intestine Large	intestine
8	chr14:69808600-69818600	Weak transcription	Fetal Brain Male	brain
9	chr14:69808600-69821600	Weak transcription	Brain Anterior Caudate	brain
10	chr14:69809800-69822800	Weak transcription	Right Atrium	heart
11	chr14:69810200-69821600	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:69810200-69822000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:69812200-69821600	Weak transcription	Aorta	Aorta
14	chr14:69813400-69821000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:69813800-69819600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:69814200-69818400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr14:69815200-69818600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:69815400-69819400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:69815400-69821200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:69815600-69821200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:69815600-69838800	Weak transcription	Brain Germinal Matrix	brain
22	chr14:69816400-69821800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:69816400-69822200	Weak transcription	Right Ventricle	heart
24	chr14:69816800-69819000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr14:69817200-69819200	Strong transcription	Left Ventricle	heart
26	chr14:69817200-69821800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:69817400-69818400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:69817400-69818800	Weak transcription	Fetal Brain Female	brain
29	chr14:69817400-69819400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:69817600-69818400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr14:69817600-69818400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:69817600-69818800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr14:69817600-69819000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr14:69817600-69822600	Weak transcription	Fetal Stomach	stomach
35	chr14:69817600-69823000	Enhancers	Primary B cells from peripheral blood	blood
36	chr14:69817800-69818800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:69817800-69819200	Enhancers	Primary B cells from cord blood	blood
38	chr14:69817800-69821000	Enhancers	GM12878-XiMat	blood
39	chr14:69818000-69819000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:69818200-69818400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr14:69818200-69818600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:69818200-69818800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:69818200-69820600	Weak transcription	Fetal Thymus	thymus
44	chr14:69818200-69820800	Strong transcription	Fetal Intestine Small	intestine
45	chr14:69818200-69821800	Weak transcription	Adipose Nuclei	Adipose

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