Variant report

Variant	rs62305726
Chromosome Location	chr4:88255851-88255852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11097131	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097147	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721653	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11726120	0.83[AMR][1000 genomes]
rs11726577	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734330	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11737402	0.87[EUR][1000 genomes]
rs11930147	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11930151	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11939415	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11946007	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505484	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55764266	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55789502	0.82[AMR][1000 genomes]
rs55895035	0.88[EUR][1000 genomes]
rs55932175	0.88[EUR][1000 genomes]
rs56083423	0.85[AMR][1000 genomes]
rs56141705	0.88[EUR][1000 genomes]
rs56258452	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284919	0.88[EUR][1000 genomes]
rs56385009	0.86[EUR][1000 genomes]
rs56390566	0.89[EUR][1000 genomes]
rs56788263	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58360495	0.88[EUR][1000 genomes]
rs60597105	0.89[EUR][1000 genomes]
rs62305681	0.83[AMR][1000 genomes]
rs62305686	0.82[AMR][1000 genomes]
rs62305688	0.85[AMR][1000 genomes]
rs62305693	0.85[AMR][1000 genomes]
rs62305719	0.82[AMR][1000 genomes]
rs62305721	0.82[AMR][1000 genomes]
rs62305728	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305729	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62305730	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305731	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305732	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305753	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319084	0.89[EUR][1000 genomes]
rs72652029	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670130	0.85[AMR][1000 genomes]
rs72670132	0.82[AMR][1000 genomes]
rs72670133	0.85[AMR][1000 genomes]
rs7436142	0.82[AMR][1000 genomes]
rs7664717	0.86[EUR][1000 genomes]
rs7665549	0.87[EUR][1000 genomes]
rs7667669	0.85[AMR][1000 genomes]
rs7671557	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674658	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690170	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870296	chr4:88173534-88295927	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv4412	chr4:88237813-88283368	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88250600-88259400	Weak transcription	Fetal Heart	heart
2	chr4:88253400-88256200	ZNF genes & repeats	Primary B cells from cord blood	blood
3	chr4:88253600-88256200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:88253800-88256000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr4:88253800-88256600	ZNF genes & repeats	Dnd41	blood
6	chr4:88253800-88258000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr4:88253800-88274600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:88254000-88256200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr4:88254000-88256200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:88254000-88256200	ZNF genes & repeats	Liver	Liver
11	chr4:88254200-88256000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr4:88254200-88256400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:88254400-88256400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr4:88254800-88257800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:88254800-88258800	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:88254800-88258800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:88254800-88260200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:88254800-88266000	Weak transcription	Brain Angular Gyrus	brain
19	chr4:88254800-88266000	Weak transcription	Fetal Kidney	kidney
20	chr4:88254800-88311800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:88255000-88256000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
22	chr4:88255000-88257200	Weak transcription	Small Intestine	intestine
23	chr4:88255000-88260200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:88255000-88260600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:88255000-88263000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:88255000-88263200	Weak transcription	HSMM	muscle
27	chr4:88255000-88266000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:88255000-88268200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr4:88255000-88292400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:88255200-88256600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
31	chr4:88255200-88256800	Weak transcription	Fetal Intestine Small	intestine
32	chr4:88255200-88257200	Weak transcription	Left Ventricle	heart
33	chr4:88255200-88257600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
34	chr4:88255200-88267800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr4:88255200-88274400	Weak transcription	GM12878-XiMat	blood
36	chr4:88255200-88285600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:88255200-88293800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:88255400-88256000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:88255400-88256000	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr4:88255400-88256000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:88255400-88256000	ZNF genes & repeats	Fetal Intestine Large	intestine
42	chr4:88255400-88256000	ZNF genes & repeats	A549	lung
43	chr4:88255400-88259600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:88255400-88261000	Strong transcription	Fetal Lung	lung
45	chr4:88255400-88263200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr4:88255400-88264600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr4:88255600-88256000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
48	chr4:88255600-88256000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:88255600-88256800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
50	chr4:88255600-88256800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood

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