Variant report

Variant	rs2839826
Chromosome Location	chr5:111674699-111674700
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	chr5:111672466..111674712-chr5:111689508..111691131,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1004383	0.91[ASN][1000 genomes]
rs1004385	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10052915	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1019743	0.91[ASN][1000 genomes]
rs1019744	0.91[ASN][1000 genomes]
rs12519600	0.91[ASN][1000 genomes]
rs1474360	0.91[ASN][1000 genomes]
rs1962305	0.80[ASN][1000 genomes]
rs1975017	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2042884	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140625	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2140626	0.80[ASN][1000 genomes]
rs2416283	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2416284	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs366217	0.84[ASN][1000 genomes]
rs366951	0.84[ASN][1000 genomes]
rs367807	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs368032	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs370640	0.84[ASN][1000 genomes]
rs373303	0.87[ASN][1000 genomes]
rs373583	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs376395	0.89[ASN][1000 genomes]
rs382482	0.84[ASN][1000 genomes]
rs387117	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs388091	0.85[ASN][1000 genomes]
rs393096	0.80[ASN][1000 genomes]
rs406359	0.82[ASN][1000 genomes]
rs406444	0.89[ASN][1000 genomes]
rs408127	0.82[ASN][1000 genomes]
rs424998	0.89[ASN][1000 genomes]
rs429580	0.86[ASN][1000 genomes]
rs440759	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs441563	0.87[ASN][1000 genomes]
rs442777	0.85[ASN][1000 genomes]
rs442947	0.84[ASN][1000 genomes]
rs443024	0.90[ASN][1000 genomes]
rs447144	0.89[ASN][1000 genomes]
rs454794	0.88[ASN][1000 genomes]
rs4958040	0.91[ASN][1000 genomes]
rs6594591	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6861186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6872155	0.81[ASN][1000 genomes]
rs6877695	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7711318	0.91[ASN][1000 genomes]
rs7720180	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7720546	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7731169	0.80[ASN][1000 genomes]
rs821733	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs821734	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs821735	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs821745	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs821747	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs987764	0.91[ASN][1000 genomes]
rs987765	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription 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	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv462386	chr5:111667572-111699317	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv599372	chr5:111667572-111699317	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111669400-111676000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:111669400-111678000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:111669600-111677800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:111669800-111683600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:111670000-111675800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:111673000-111675800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr5:111673600-111675000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:111673600-111675000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:111673600-111676200	Enhancers	Left Ventricle	heart
11	chr5:111673600-111676200	Enhancers	Psoas Muscle	Psoas
12	chr5:111673600-111676800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:111673800-111675000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:111673800-111675000	Flanking Active TSS	Hela-S3	cervix
15	chr5:111674000-111674800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:111674000-111674800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:111674000-111674800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:111674000-111675000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:111674000-111675000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr5:111674000-111675000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr5:111674000-111675200	Enhancers	Right Atrium	heart
22	chr5:111674000-111675400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:111674000-111675600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:111674000-111676200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:111674200-111674800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr5:111674200-111674800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:111674200-111674800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:111674200-111674800	Enhancers	Brain Angular Gyrus	brain
29	chr5:111674200-111674800	Weak transcription	Esophagus	oesophagus
30	chr5:111674200-111674800	Enhancers	NH-A	brain
31	chr5:111674200-111674800	Enhancers	NHDF-Ad	bronchial
32	chr5:111674200-111674800	Enhancers	Osteobl	bone
33	chr5:111674200-111675000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:111674200-111675000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:111674200-111675000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:111674200-111675000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr5:111674200-111675000	Enhancers	Adipose Nuclei	Adipose
38	chr5:111674200-111675000	Enhancers	Brain Cingulate Gyrus	brain
39	chr5:111674200-111675000	Enhancers	Brain Substantia Nigra	brain
40	chr5:111674200-111675200	Enhancers	Brain Hippocampus Middle	brain
41	chr5:111674200-111675600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:111674200-111678200	Weak transcription	Pancreas	Pancrea
43	chr5:111674400-111674800	Enhancers	Liver	Liver
44	chr5:111674400-111674800	Enhancers	Colon Smooth Muscle	Colon
45	chr5:111674400-111675000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:111674400-111675000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:111674400-111675000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:111674400-111675000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:111674400-111675000	Enhancers	Brain Anterior Caudate	brain
50	chr5:111674400-111675000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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