Variant report

Variant	rs71607032
Chromosome Location	chr4:20741461-20741462
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13121188	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13122760	0.83[EUR][1000 genomes]
rs13123327	0.83[EUR][1000 genomes]
rs13141509	0.83[AFR][1000 genomes]
rs13147509	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13148958	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13149131	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16869935	0.81[EUR][1000 genomes]
rs2195033	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34733889	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34741188	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35192095	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35404532	0.81[EUR][1000 genomes]
rs35469294	0.83[AFR][1000 genomes]
rs3909706	0.85[AFR][1000 genomes]
rs3909707	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57152361	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59557053	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6830033	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71607029	0.83[AFR][1000 genomes]
rs71607034	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20724600-20742000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:20724800-20741600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:20725000-20753000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:20730600-20757600	Weak transcription	HSMM	muscle
5	chr4:20732600-20758400	Weak transcription	Brain Angular Gyrus	brain
6	chr4:20735200-20741600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr4:20736000-20747800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:20736200-20741600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr4:20738400-20741600	ZNF genes & repeats	Fetal Lung	lung
10	chr4:20738400-20741800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:20738600-20742000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr4:20738800-20742000	Weak transcription	NHDF-Ad	bronchial
13	chr4:20739200-20741600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:20739200-20748200	Weak transcription	Psoas Muscle	Psoas
15	chr4:20739200-20761200	Weak transcription	Fetal Heart	heart
16	chr4:20739600-20755200	Weak transcription	K562	blood
17	chr4:20740200-20742200	Weak transcription	Osteobl	bone
18	chr4:20740200-20755200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:20740600-20741600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:20740600-20741800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:20740600-20742800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:20740600-20743400	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:20740600-20754800	Weak transcription	Dnd41	blood
24	chr4:20740600-20756600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:20740600-20757200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:20740600-20763600	Weak transcription	Brain Anterior Caudate	brain
27	chr4:20740800-20742800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr4:20740800-20746400	Weak transcription	Left Ventricle	heart
29	chr4:20740800-20750800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:20740800-20751400	Weak transcription	Pancreas	Pancrea
31	chr4:20740800-20756000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:20740800-20757200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:20740800-20757600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:20740800-20763600	Weak transcription	HSMMtube	muscle
35	chr4:20740800-20770600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:20740800-20791200	Weak transcription	Ovary	ovary
37	chr4:20741000-20749200	Weak transcription	Fetal Stomach	stomach
38	chr4:20741000-20753600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:20741000-20757800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:20741200-20741600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:20741400-20741800	ZNF genes & repeats	Primary T cells from cord blood	blood

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