Variant report

Variant	rs28919926
Chromosome Location	chr5:42800866-42800867
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	chr5:42800716..42803612-chr5:42804755..42806774,2	K562	blood:

Variant related genes	Relation type
ENSG00000272234	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1084377	1.00[EUR][1000 genomes]
rs366338	1.00[EUR][1000 genomes]
rs408672	1.00[EUR][1000 genomes]
rs418877	1.00[EUR][1000 genomes]
rs422741	1.00[EUR][1000 genomes]
rs55755736	1.00[EUR][1000 genomes]
rs56319761	1.00[EUR][1000 genomes]
rs56362868	1.00[EUR][1000 genomes]
rs58607726	1.00[EUR][1000 genomes]
rs61045579	1.00[EUR][1000 genomes]
rs6177	1.00[CHB][hapmap]
rs6181	1.00[CHB][hapmap]
rs73751260	1.00[EUR][1000 genomes]
rs73751261	1.00[EUR][1000 genomes]
rs73751262	1.00[EUR][1000 genomes]
rs73751263	1.00[EUR][1000 genomes]
rs73751264	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription 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	8 gene(s)	inside rSNPs	diseases
6	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
9	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
10	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
11	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
14	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42788600-42807600	Weak transcription	Primary T cells from cord blood	blood
2	chr5:42789600-42813400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:42790800-42802200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:42791400-42811200	Weak transcription	Fetal Thymus	thymus
5	chr5:42792000-42807600	Weak transcription	NHDF-Ad	bronchial
6	chr5:42794400-42802800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:42795600-42810200	Weak transcription	Thymus	Thymus
8	chr5:42795800-42801000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:42797000-42810600	Weak transcription	Esophagus	oesophagus
10	chr5:42797400-42802800	Weak transcription	GM12878-XiMat	blood
11	chr5:42797400-42810800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:42797600-42808200	Weak transcription	HSMM	muscle
13	chr5:42797800-42809200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:42798200-42808400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:42798200-42811200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:42798400-42801000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:42798600-42806200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:42798600-42808200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:42798800-42801000	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:42798800-42806200	Weak transcription	Brain Angular Gyrus	brain
21	chr5:42798800-42806400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:42799000-42811600	Weak transcription	HSMMtube	muscle
23	chr5:42799400-42801600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:42799400-42807000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:42799400-42807400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:42799400-42808200	Weak transcription	Colonic Mucosa	Colon
27	chr5:42799600-42801200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:42799600-42807600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:42799600-42811400	Weak transcription	Fetal Brain Female	brain
30	chr5:42799600-42812000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:42799800-42801400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:42799800-42801800	Strong transcription	Brain Anterior Caudate	brain
33	chr5:42799800-42805200	Strong transcription	Fetal Lung	lung
34	chr5:42799800-42806000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:42799800-42806200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:42799800-42807400	Strong transcription	Adipose Nuclei	Adipose
37	chr5:42799800-42808200	Strong transcription	Placenta	Placenta
38	chr5:42799800-42808400	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:42800000-42802200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr5:42800000-42805200	Strong transcription	Liver	Liver
41	chr5:42800000-42806200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:42800000-42808200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:42800000-42809400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:42800400-42806600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:42800600-42801400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:42800600-42802200	Strong transcription	Brain Substantia Nigra	brain
47	chr5:42800600-42806200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr5:42800600-42807200	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:42800600-42808000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:42800600-42811200	Weak transcription	Small Intestine	intestine

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