Variant report

Variant	rs294045
Chromosome Location	chr5:102887434-102887435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:102871540..102874523-chr5:102886450..102889230,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10044216	1.00[ASN][1000 genomes]
rs10045774	0.99[ASN][1000 genomes]
rs10057908	0.97[ASN][1000 genomes]
rs11750125	0.98[ASN][1000 genomes]
rs11956617	0.89[ASN][1000 genomes]
rs159164	0.80[ASN][1000 genomes]
rs159165	0.80[ASN][1000 genomes]
rs159166	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs159167	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs159169	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs169799	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs169800	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1813569	0.99[ASN][1000 genomes]
rs1988929	1.00[ASN][1000 genomes]
rs2048150	1.00[ASN][1000 genomes]
rs2112340	0.93[ASN][1000 genomes]
rs2401010	0.95[ASN][1000 genomes]
rs251162	0.80[ASN][1000 genomes]
rs251163	0.80[ASN][1000 genomes]
rs294041	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs294044	0.97[ASN][1000 genomes]
rs294048	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs294098	0.95[ASN][1000 genomes]
rs34224	0.86[AMR][1000 genomes]
rs3734087	0.99[ASN][1000 genomes]
rs409474	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs443022	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs458304	0.95[ASN][1000 genomes]
rs4703253	0.99[ASN][1000 genomes]
rs4703254	0.99[ASN][1000 genomes]
rs6596534	1.00[ASN][1000 genomes]
rs7724372	1.00[ASN][1000 genomes]
rs822416	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822418	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv882523	chr5:102687151-103342745	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1031600	chr5:102728430-103013575	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1025561	chr5:102744280-103152495	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv537832	chr5:102744280-103152495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1025859	chr5:102744479-103710290	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv537833	chr5:102744479-103710290	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:102874200-102897400	Weak transcription	Pancreas	Pancrea
2	chr5:102875400-102887800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:102875800-102897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:102876800-102887800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:102877200-102888000	Weak transcription	Stomach Mucosa	stomach
6	chr5:102878400-102887800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:102879800-102897200	Weak transcription	Brain Germinal Matrix	brain
8	chr5:102879800-102897400	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:102880200-102897200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:102881200-102897800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:102882400-102897400	Weak transcription	Psoas Muscle	Psoas
12	chr5:102882800-102897400	Weak transcription	Fetal Heart	heart
13	chr5:102882800-102897600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:102883000-102889200	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:102883200-102897400	Weak transcription	GM12878-XiMat	blood
16	chr5:102884000-102891600	Weak transcription	Gastric	stomach
17	chr5:102884200-102889200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr5:102884200-102894000	Weak transcription	NHEK	skin
19	chr5:102884600-102897400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:102884600-102897400	Weak transcription	HSMMtube	muscle
21	chr5:102884600-102897400	Weak transcription	NH-A	brain
22	chr5:102884600-102898000	Weak transcription	Small Intestine	intestine
23	chr5:102884800-102887600	Weak transcription	NHDF-Ad	bronchial
24	chr5:102884800-102889200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:102884800-102893400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:102885200-102887800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:102885200-102887800	Weak transcription	K562	blood
28	chr5:102885200-102889200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr5:102885200-102897400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:102885200-102897400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:102885200-102897400	Weak transcription	Fetal Stomach	stomach
32	chr5:102885200-102897400	Weak transcription	Lung	lung
33	chr5:102885200-102897800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:102885200-102897800	Weak transcription	Esophagus	oesophagus
35	chr5:102885400-102891800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:102885400-102892000	Strong transcription	Liver	Liver
37	chr5:102885400-102894400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:102885400-102896000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:102885400-102897200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:102885400-102897600	Weak transcription	Colonic Mucosa	Colon
41	chr5:102885400-102897800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:102885400-102897800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:102885600-102889200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:102885600-102891200	Strong transcription	Adipose Nuclei	Adipose
45	chr5:102885600-102891800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:102885600-102893600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:102885600-102894200	Weak transcription	Fetal Thymus	thymus
48	chr5:102885600-102897600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr5:102885800-102888400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr5:102885800-102891600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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