Variant report

Variant	rs9938382
Chromosome Location	chr16:72080405-72080406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72071921..72074280-chr16:72078965..72081743,2	K562	blood:
2	chr16:72079240..72082206-chr16:72084607..72086116,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10048111	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10048144	0.81[AMR][1000 genomes]
rs10492813	0.80[ASN][1000 genomes]
rs10492814	0.81[ASN][1000 genomes]
rs1050361	0.81[ASN][1000 genomes]
rs10852511	0.83[EUR][1000 genomes]
rs12162087	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12443622	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12446480	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12708925	0.80[ASN][1000 genomes]
rs12917999	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12924413	0.81[ASN][1000 genomes]
rs12930205	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12930702	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12932845	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12935266	0.82[EUR][1000 genomes]
rs2070937	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2081222	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2081223	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2236765	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2241411	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2287998	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2287999	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2288000	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2288001	0.89[ASN][1000 genomes]
rs2288002	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2303285	0.81[ASN][1000 genomes]
rs251033	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2550035	0.85[ASN][1000 genomes]
rs2550038	0.86[ASN][1000 genomes]
rs2550868	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2550869	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2550870	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2550876	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3764311	0.81[ASN][1000 genomes]
rs3764314	0.81[ASN][1000 genomes]
rs3812986	0.83[EUR][1000 genomes]
rs3852781	0.81[ASN][1000 genomes]
rs3852782	0.81[EUR][1000 genomes]
rs3890860	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3909542	0.85[EUR][1000 genomes]
rs4788458	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788461	0.81[EUR][1000 genomes]
rs4788609	0.80[EUR][1000 genomes]
rs4788610	0.82[EUR][1000 genomes]
rs56139130	0.93[ASN][1000 genomes]
rs6499557	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7185840	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7188962	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7189115	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7189591	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7190994	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7194397	0.81[ASN][1000 genomes]
rs7199261	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7200854	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7201643	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7201866	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7202268	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7203426	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7203821	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7350838	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7940	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8053907	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8059437	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8060770	0.82[EUR][1000 genomes]
rs8182213	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9924964	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9926927	0.81[ASN][1000 genomes]
rs9928157	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9930890	0.85[ASN][1000 genomes]
rs9932951	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
8	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72059600-72084600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr16:72060200-72095600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:72060200-72110600	Weak transcription	Esophagus	oesophagus
4	chr16:72076200-72098200	Weak transcription	Fetal Heart	heart
5	chr16:72076600-72084600	Weak transcription	Lung	lung
6	chr16:72076600-72092400	Weak transcription	Left Ventricle	heart
7	chr16:72077000-72107400	Weak transcription	Right Ventricle	heart
8	chr16:72077400-72081200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:72077400-72082800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr16:72077400-72084000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr16:72077400-72102400	Weak transcription	Brain Substantia Nigra	brain
12	chr16:72077400-72107400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr16:72077600-72084400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:72077600-72107400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr16:72078000-72080800	Weak transcription	Ovary	ovary
16	chr16:72078000-72083600	Weak transcription	Primary B cells from cord blood	blood
17	chr16:72078000-72084400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:72078000-72090000	Weak transcription	Gastric	stomach
19	chr16:72078000-72100800	Weak transcription	Brain Hippocampus Middle	brain
20	chr16:72078000-72103200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr16:72078200-72095600	Weak transcription	Brain Anterior Caudate	brain
22	chr16:72078200-72105200	Weak transcription	Brain Angular Gyrus	brain
23	chr16:72078400-72081600	Weak transcription	Fetal Stomach	stomach
24	chr16:72078400-72084600	Weak transcription	Adipose Nuclei	Adipose
25	chr16:72078400-72098400	Weak transcription	Primary T cells from cord blood	blood
26	chr16:72078400-72105400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr16:72078400-72108000	Weak transcription	Aorta	Aorta
28	chr16:72078600-72083200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr16:72079600-72084000	Weak transcription	HepG2	liver

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