Variant report

Variant	rs8016175
Chromosome Location	chr14:78213522-78213523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1006038	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1006039	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1006040	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1008988	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10136053	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10142722	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10148373	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10149619	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1048147	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11159288	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623088	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11624101	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11628888	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11847025	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12435761	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12883228	0.81[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]
rs12890375	0.87[ASN][1000 genomes]
rs12890728	0.82[ASN][1000 genomes]
rs13379065	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1469018	0.85[ASN][1000 genomes]
rs1477259	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1477260	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1477261	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477262	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1549119	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17106157	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs176943	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs176944	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs176946	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs176951	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs176952	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs176953	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs176955	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs176957	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs176960	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs176962	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs176966	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs176971	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs176973	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];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1984925	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2032781	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112136	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2267758	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2267759	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2267760	0.88[ASN][1000 genomes]
rs2267761	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2267766	0.81[ASN][1000 genomes]
rs2267767	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267768	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299930	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2364584	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2364840	0.82[ASN][1000 genomes]
rs2544567	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28534379	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28603114	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35204328	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759728	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783980	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783983	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4383070	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4632066	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4903643	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55909252	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56017708	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56412551	0.88[ASN][1000 genomes]
rs57635466	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61992862	0.80[ASN][1000 genomes]
rs61992866	0.82[ASN][1000 genomes]
rs61993668	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6574388	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6574391	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574402	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574404	0.82[ASN][1000 genomes]
rs7142390	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7147516	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7151211	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7158826	0.85[ASN][1000 genomes]
rs717683	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72210300	0.82[ASN][1000 genomes]
rs72685264	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs759808	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8003691	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003979	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011337	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8014635	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016447	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018741	0.82[EUR][1000 genomes]
rs8018971	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9788540	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
6	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:78176800-78221800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:78177000-78222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:78177000-78224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:78177200-78223800	Strong transcription	Dnd41	blood
12	chr14:78177400-78222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:78192200-78215400	Weak transcription	Small Intestine	intestine
14	chr14:78196200-78217800	Strong transcription	Fetal Stomach	stomach
15	chr14:78199000-78225200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:78199200-78215800	Weak transcription	Esophagus	oesophagus
17	chr14:78199600-78225000	Weak transcription	Fetal Heart	heart
18	chr14:78201600-78226600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr14:78203400-78215400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:78203400-78217400	Weak transcription	Aorta	Aorta
21	chr14:78203800-78219400	Weak transcription	Fetal Brain Male	brain
22	chr14:78204000-78215200	Weak transcription	Hela-S3	cervix
23	chr14:78205000-78213800	Weak transcription	Colonic Mucosa	Colon
24	chr14:78205000-78215800	Weak transcription	Right Ventricle	heart
25	chr14:78205000-78216000	Weak transcription	Psoas Muscle	Psoas
26	chr14:78205200-78213600	Weak transcription	Ovary	ovary
27	chr14:78205200-78213800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:78205200-78213800	Weak transcription	Pancreas	Pancrea
29	chr14:78205200-78213800	Weak transcription	Spleen	Spleen
30	chr14:78205400-78215200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:78205400-78215800	Weak transcription	NHLF	lung
32	chr14:78205400-78216200	Weak transcription	Brain Angular Gyrus	brain
33	chr14:78205400-78219400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:78205600-78215200	Weak transcription	Osteobl	bone
35	chr14:78205600-78215400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:78205600-78215400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr14:78205600-78215400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:78205600-78219200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:78205800-78215400	Weak transcription	HSMMtube	muscle
40	chr14:78206800-78221400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:78207000-78219400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:78207000-78222000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:78207200-78215400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:78207200-78222000	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:78207400-78217800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr14:78207400-78223000	Strong transcription	Fetal Thymus	thymus
47	chr14:78207600-78222400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:78207600-78224800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:78207600-78225400	Strong transcription	Placenta	Placenta
50	chr14:78208000-78215400	Weak transcription	NHEK	skin

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