Variant report

Variant	rs1294670
Chromosome Location	chr4:106658249-106658250
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10516523	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11722731	1.00[ASN][1000 genomes]
rs11933386	0.85[EUR][1000 genomes]
rs11933466	0.83[EUR][1000 genomes]
rs11934139	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941690	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12639750	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1294667	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1294669	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1294673	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120110	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13147012	0.82[ASN][1000 genomes]
rs13148869	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036098	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17262764	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2080789	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2544395	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2544398	0.85[EUR][1000 genomes]
rs2544404	0.85[EUR][1000 genomes]
rs2544405	0.85[EUR][1000 genomes]
rs2544412	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2544413	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2544421	0.84[EUR][1000 genomes]
rs2544423	0.84[EUR][1000 genomes]
rs2553432	0.85[EUR][1000 genomes]
rs2553436	0.85[EUR][1000 genomes]
rs2553438	0.84[EUR][1000 genomes]
rs2553441	0.85[EUR][1000 genomes]
rs2553449	0.91[ASN][1000 genomes]
rs2553458	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2553462	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2553468	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28628106	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3756260	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699196	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6533218	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533221	0.84[EUR][1000 genomes]
rs6820200	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7680134	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7684442	0.91[AMR][1000 genomes]
rs7684839	0.96[ASN][1000 genomes]
rs7685231	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS 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 miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv879700	chr4:106643445-106745057	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000947	chr4:106651153-106701679	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106630800-106658400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:106631000-106659000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:106631000-106663000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:106631000-106669400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:106631400-106658800	Weak transcription	A549	lung
6	chr4:106634000-106693200	Weak transcription	K562	blood
7	chr4:106635600-106658400	Weak transcription	Osteobl	bone
8	chr4:106635600-106665000	Weak transcription	HUVEC	blood vessel
9	chr4:106635600-106669800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:106636200-106658800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:106637200-106660800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:106643000-106662600	Weak transcription	Fetal Kidney	kidney
13	chr4:106645400-106658800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:106648000-106669800	Weak transcription	HSMM	muscle
15	chr4:106648200-106658800	Weak transcription	Fetal Brain Male	brain
16	chr4:106654400-106659600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:106654600-106660000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr4:106655600-106659400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr4:106655600-106659800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr4:106655800-106658400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:106655800-106659400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr4:106656200-106658400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:106656200-106659000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr4:106656200-106659400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr4:106656400-106659400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:106656600-106659600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:106657000-106658600	Weak transcription	Aorta	Aorta
28	chr4:106657000-106658800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:106657000-106658800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:106657000-106658800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:106657000-106658800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:106657000-106659000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:106657000-106659000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:106657000-106659000	Weak transcription	Esophagus	oesophagus
35	chr4:106657000-106659000	Weak transcription	Fetal Stomach	stomach
36	chr4:106657000-106660200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:106657000-106660800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr4:106657000-106660800	Weak transcription	Thymus	Thymus
39	chr4:106657000-106661000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:106657000-106661000	Weak transcription	Fetal Intestine Small	intestine
41	chr4:106657000-106661000	Weak transcription	Fetal Thymus	thymus
42	chr4:106657000-106661000	Weak transcription	Pancreas	Pancrea
43	chr4:106657000-106661000	Weak transcription	Spleen	Spleen
44	chr4:106657000-106662400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:106657000-106663000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:106657000-106669800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:106657000-106669800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:106657000-106670000	Weak transcription	Gastric	stomach
49	chr4:106657000-106670200	Weak transcription	Ovary	ovary
50	chr4:106657200-106658600	Weak transcription	Monocytes-CD14+_RO01746	blood

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