Variant report

Variant	rs56196275
Chromosome Location	chr4:88254691-88254692
allele	A/G
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:58)

rs_ID	r²[population]
rs11931674	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11934060	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11939903	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11940002	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11946391	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11946465	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55663915	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55878019	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55879514	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55933669	1.00[AMR][1000 genomes]
rs55968517	1.00[AMR][1000 genomes]
rs55974821	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56113853	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56293231	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56336118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57088507	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57743836	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57806008	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57948983	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58637341	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58985971	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59037460	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59137232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59157345	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59311794	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59476561	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59593300	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60371489	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60404847	0.85[AMR][1000 genomes]
rs60661283	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60690297	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60955120	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61262236	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61367052	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61514672	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61594871	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61646372	0.88[AFR][1000 genomes]
rs6820688	1.00[AMR][1000 genomes]
rs73839181	0.85[AMR][1000 genomes]
rs73839185	1.00[AMR][1000 genomes]
rs73839189	1.00[AMR][1000 genomes]
rs73839191	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839192	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73841125	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73841126	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73841128	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73841136	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73841139	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73841140	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73841141	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73841142	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73841143	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73841144	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73841145	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7660178	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7665638	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7671726	0.85[AMR][1000 genomes]
rs7698406	0.81[AFR][1000 genomes];1.00[AMR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88239400-88255400	Weak transcription	A549	lung
2	chr4:88250600-88259400	Weak transcription	Fetal Heart	heart
3	chr4:88253400-88256200	ZNF genes & repeats	Primary B cells from cord blood	blood
4	chr4:88253600-88255400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:88253600-88256200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:88253800-88254800	ZNF genes & repeats	Fetal Lung	lung
7	chr4:88253800-88256000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr4:88253800-88256600	ZNF genes & repeats	Dnd41	blood
9	chr4:88253800-88258000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr4:88253800-88274600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:88254000-88254800	ZNF genes & repeats	Colon Smooth Muscle	Colon
12	chr4:88254000-88255000	ZNF genes & repeats	HepG2	liver
13	chr4:88254000-88256200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr4:88254000-88256200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:88254000-88256200	ZNF genes & repeats	Liver	Liver
16	chr4:88254200-88254800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
17	chr4:88254200-88255000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:88254200-88255000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
19	chr4:88254200-88255000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:88254200-88255200	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr4:88254200-88256000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr4:88254200-88256400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:88254400-88254800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
24	chr4:88254400-88255000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
25	chr4:88254400-88255800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:88254400-88256400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr4:88254600-88255400	Weak transcription	Rectal Mucosa Donor 29	rectum

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