Variant report

Variant	rs7685481
Chromosome Location	chr4:20740583-20740584
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10017693	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10018931	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10022322	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10024002	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10025286	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10034054	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10084802	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10805219	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11941041	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11944886	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12152652	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12331966	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12644782	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12650007	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16869886	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16869889	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1985322	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2052775	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2114472	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2114473	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2288308	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2322688	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28524474	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28637181	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28714128	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28788006	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3764964	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3764966	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3815872	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4414951	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4431223	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4510461	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4640668	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55847423	0.81[ASN][1000 genomes]
rs57740160	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59335491	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62410159	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6447974	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6447975	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6447976	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6447978	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6447982	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6811030	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6811505	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6817475	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6831295	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6831516	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7438098	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7655154	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7660006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7666288	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7673805	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7674453	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7681691	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7696618	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs990206	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9995438	0.95[AFR][1000 genomes];0.89[AMR][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	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv869522	chr4:20724433-20938248	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20703000-20741400	Weak transcription	Stomach Mucosa	stomach
2	chr4:20703200-20741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:20724600-20742000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:20724800-20741600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:20725000-20740600	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:20725000-20753000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:20730600-20757600	Weak transcription	HSMM	muscle
8	chr4:20732600-20758400	Weak transcription	Brain Angular Gyrus	brain
9	chr4:20735200-20741600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr4:20736000-20747800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:20736200-20741600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr4:20736800-20741400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:20737000-20740600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr4:20737400-20741200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:20737400-20741400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr4:20737600-20740600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:20738000-20740800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:20738200-20740600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr4:20738200-20741200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:20738400-20740600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr4:20738400-20740800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:20738400-20740800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
23	chr4:20738400-20740800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:20738400-20740800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:20738400-20740800	ZNF genes & repeats	Brain Germinal Matrix	brain
26	chr4:20738400-20740800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr4:20738400-20740800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr4:20738400-20740800	ZNF genes & repeats	Fetal Brain Female	brain
29	chr4:20738400-20740800	ZNF genes & repeats	Ovary	ovary
30	chr4:20738400-20741000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:20738400-20741000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr4:20738400-20741600	ZNF genes & repeats	Fetal Lung	lung
33	chr4:20738400-20741800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:20738600-20740600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:20738600-20740600	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr4:20738600-20740600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
37	chr4:20738600-20740600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
38	chr4:20738600-20740600	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:20738600-20740600	ZNF genes & repeats	Dnd41	blood
40	chr4:20738600-20740800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:20738600-20740800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr4:20738600-20740800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
43	chr4:20738600-20740800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:20738600-20740800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:20738600-20740800	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr4:20738600-20740800	ZNF genes & repeats	Liver	Liver
47	chr4:20738600-20740800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
48	chr4:20738600-20740800	ZNF genes & repeats	Left Ventricle	heart
49	chr4:20738600-20741000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:20738600-20741000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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