Variant report

Variant	rs28534379
Chromosome Location	chr14:78172140-78172141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78170877..78172859-chr14:78173007..78174927,2	K562	blood:
2	chr14:78166641..78172350-chr14:78172652..78176323,11	MCF-7	breast:
3	chr14:78169975..78173523-chr14:78173651..78176580,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100601	Chromatin interaction
ENSG00000119705	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1006038	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1006039	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1006040	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1008988	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10136053	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10142722	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10148373	0.87[EUR][1000 genomes]
rs10149619	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1048147	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11159288	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11623088	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11624101	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628888	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12435761	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12887282	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12887606	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13379065	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1477259	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1477260	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1477261	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1477262	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1549119	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17106157	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs176943	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176946	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176952	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176953	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs176955	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176957	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs176960	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176962	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs176966	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs176971	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs176973	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs176979	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs176980	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1978416	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1984925	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2032781	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2112136	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2267758	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2267759	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2267760	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2267761	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2267766	0.83[ASN][1000 genomes]
rs2267767	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2267768	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299930	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2364584	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2544567	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28603114	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35204328	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3759728	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783980	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783983	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4383070	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4632066	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4903643	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55909252	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56017708	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56412551	0.90[ASN][1000 genomes]
rs57635466	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59848135	0.83[EUR][1000 genomes]
rs61992866	0.80[ASN][1000 genomes]
rs61993668	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574388	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6574391	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574402	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7142390	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7147516	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7151211	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs717683	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72210300	0.88[ASN][1000 genomes]
rs72685264	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs759808	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8003691	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8003979	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8011337	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8014635	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8016175	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8016447	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8018971	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9788540	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78127400-78173200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:78140400-78172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:78150400-78172200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:78152600-78172200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:78154400-78172600	Weak transcription	Small Intestine	intestine
7	chr14:78156800-78172400	Strong transcription	Dnd41	blood
8	chr14:78158600-78172800	Weak transcription	NHDF-Ad	bronchial
9	chr14:78163800-78172600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:78163800-78172600	Weak transcription	HMEC	breast
11	chr14:78163800-78173400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:78163800-78173400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:78163800-78173400	Weak transcription	Right Ventricle	heart
14	chr14:78164000-78173000	Weak transcription	HSMMtube	muscle
15	chr14:78164000-78173400	Weak transcription	Aorta	Aorta
16	chr14:78165800-78172600	Weak transcription	Fetal Heart	heart
17	chr14:78166400-78172200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr14:78166400-78172800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:78167000-78172200	Strong transcription	Fetal Brain Female	brain
20	chr14:78167000-78172200	Strong transcription	Fetal Stomach	stomach
21	chr14:78167200-78172200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:78168000-78172800	Weak transcription	Psoas Muscle	Psoas
23	chr14:78169000-78173000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:78169200-78172800	Weak transcription	HUVEC	blood vessel
25	chr14:78169600-78173400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:78169800-78172800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:78169800-78172800	Weak transcription	Brain Germinal Matrix	brain
28	chr14:78170600-78173200	Weak transcription	Colonic Mucosa	Colon
29	chr14:78170800-78172600	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:78170800-78172800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:78170800-78173200	Weak transcription	Gastric	stomach
32	chr14:78170800-78173400	Weak transcription	Pancreas	Pancrea
33	chr14:78171000-78172600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:78171000-78172600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:78171000-78172600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:78171000-78172600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:78171000-78172600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:78171000-78172600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:78171000-78172800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:78171000-78172800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:78171000-78172800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:78171000-78172800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr14:78171000-78172800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:78171000-78172800	Weak transcription	Fetal Brain Male	brain
45	chr14:78171000-78172800	Weak transcription	Fetal Kidney	kidney
46	chr14:78171000-78173400	Weak transcription	Esophagus	oesophagus
47	chr14:78171200-78172600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr14:78171200-78172600	Weak transcription	Primary B cells from cord blood	blood
49	chr14:78171200-78172600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:78171200-78172600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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