Variant report

Variant	rs72671379
Chromosome Location	chr14:39538362-39538363
allele	C/T
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	STAT3	chr14:39538247-39538391	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr14:39538180-39538592	HepG2	liver:	n/a	n/a
3	ZEB1	chr14:39538313-39538776	HepG2	liver:	n/a	n/a
4	FOXA1	chr14:39538340-39538810	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:39538253-39538668	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SEC23A	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10483540	0.80[EUR][1000 genomes]
rs17108815	0.90[EUR][1000 genomes]
rs45469295	0.89[EUR][1000 genomes]
rs45469795	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45540035	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55790340	0.98[EUR][1000 genomes]
rs55880223	0.89[EUR][1000 genomes]
rs55918207	0.87[EUR][1000 genomes]
rs55981737	0.89[EUR][1000 genomes]
rs55987939	0.89[EUR][1000 genomes]
rs55997577	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56032918	0.89[EUR][1000 genomes]
rs56063785	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56074634	0.98[EUR][1000 genomes]
rs56087094	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56103446	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56125789	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136756	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225465	0.91[EUR][1000 genomes]
rs56225696	0.85[EUR][1000 genomes]
rs56237815	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56276842	0.89[EUR][1000 genomes]
rs56282196	0.89[EUR][1000 genomes]
rs56328886	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333870	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334607	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56335002	0.98[EUR][1000 genomes]
rs56341545	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56404404	0.89[EUR][1000 genomes]
rs57248532	0.85[EUR][1000 genomes]
rs59418195	0.93[EUR][1000 genomes]
rs6571907	0.80[EUR][1000 genomes]
rs67808375	0.98[EUR][1000 genomes]
rs67970726	0.81[EUR][1000 genomes]
rs7147914	0.89[EUR][1000 genomes]
rs7148908	0.86[EUR][1000 genomes]
rs7150638	0.90[EUR][1000 genomes]
rs7161065	0.84[EUR][1000 genomes]
rs72669383	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669388	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669397	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669399	0.89[EUR][1000 genomes]
rs72669400	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671304	0.89[EUR][1000 genomes]
rs72671307	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671309	0.87[EUR][1000 genomes]
rs72671311	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671316	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671332	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671333	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671344	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671349	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671353	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671360	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671362	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671367	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671372	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671382	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671387	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671398	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671400	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673307	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673314	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673315	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673316	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72673317	0.98[EUR][1000 genomes]
rs72673318	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72673328	0.93[EUR][1000 genomes]
rs72673329	0.93[EUR][1000 genomes]
rs72673339	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72673340	0.86[EUR][1000 genomes]
rs72673346	0.89[EUR][1000 genomes]
rs72673350	0.89[EUR][1000 genomes]
rs72673357	0.87[EUR][1000 genomes]
rs72673359	0.85[EUR][1000 genomes]
rs8009457	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39523800-39540200	Weak transcription	Psoas Muscle	Psoas
2	chr14:39525400-39540600	Strong transcription	NH-A	brain
3	chr14:39525600-39540600	Strong transcription	HSMM	muscle
4	chr14:39525600-39541000	Weak transcription	Brain Angular Gyrus	brain
5	chr14:39525600-39565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:39526000-39557200	Strong transcription	Osteobl	bone
7	chr14:39526400-39563200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:39526800-39538400	Strong transcription	Liver	Liver
9	chr14:39526800-39540400	Weak transcription	Spleen	Spleen
10	chr14:39526800-39540800	Weak transcription	Right Ventricle	heart
11	chr14:39526800-39541200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:39526800-39552600	Weak transcription	Gastric	stomach
13	chr14:39526800-39553800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:39526800-39554000	Weak transcription	Aorta	Aorta
15	chr14:39526800-39554000	Weak transcription	Esophagus	oesophagus
16	chr14:39526800-39554200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:39526800-39554200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:39526800-39566600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:39527000-39539000	Weak transcription	Lung	lung
20	chr14:39527000-39540600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:39527000-39540600	Weak transcription	Thymus	Thymus
22	chr14:39527000-39541800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:39527000-39554200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:39527000-39565400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:39527400-39538400	Strong transcription	HepG2	liver
26	chr14:39527400-39549000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:39527600-39554200	Weak transcription	K562	blood
28	chr14:39528000-39547800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr14:39528000-39565400	Strong transcription	Placenta	Placenta
30	chr14:39528000-39565600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr14:39528200-39545800	Strong transcription	Dnd41	blood
32	chr14:39528200-39548800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:39528600-39566400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:39529200-39559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:39529200-39566600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:39529600-39539400	Weak transcription	HMEC	breast
37	chr14:39529600-39539800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:39529600-39564200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr14:39529800-39554200	Weak transcription	Fetal Brain Male	brain
40	chr14:39529800-39566400	Weak transcription	Fetal Heart	heart
41	chr14:39530200-39540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:39530600-39552000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:39531000-39539000	Weak transcription	Brain Anterior Caudate	brain
44	chr14:39531200-39540800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr14:39531200-39541600	Weak transcription	Brain Substantia Nigra	brain
46	chr14:39531200-39569200	Weak transcription	Stomach Mucosa	stomach
47	chr14:39531400-39545800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:39531600-39543000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:39532000-39565400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:39534000-39540200	Weak transcription	Placenta Amnion	Placenta Amnion

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