Variant report

Variant	rs4027128
Chromosome Location	chr6:121474711-121474712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10457412	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12205580	0.88[EUR][1000 genomes]
rs1273724	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1273728	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1273746	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1290678	0.82[AMR][1000 genomes]
rs1392863	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1604278	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1776817	0.88[EUR][1000 genomes]
rs1827299	0.80[EUR][1000 genomes]
rs1846865	0.85[AMR][1000 genomes]
rs1846866	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1891646	0.84[AMR][1000 genomes]
rs1995313	0.85[AMR][1000 genomes]
rs2088832	0.82[AMR][1000 genomes]
rs218867	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2202066	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs391331	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3956400	0.83[AMR][1000 genomes]
rs407586	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4321860	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4412234	0.85[AMR][1000 genomes]
rs443149	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4476866	0.85[EUR][1000 genomes]
rs4498397	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4601176	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4946535	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4946547	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs59805136	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs624687	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6569174	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6916050	0.85[AMR][1000 genomes]
rs6926502	0.84[AMR][1000 genomes]
rs6941235	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7450632	0.85[AMR][1000 genomes]
rs7768058	0.85[AMR][1000 genomes]
rs7771881	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs785395	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs905025	0.85[EUR][1000 genomes]
rs9320791	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9320799	0.81[EUR][1000 genomes]
rs9372640	0.84[EUR][1000 genomes]
rs9372641	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9372642	0.87[AFR][1000 genomes]
rs9372643	0.87[EUR][1000 genomes]
rs9372644	0.81[EUR][1000 genomes]
rs9372645	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9375004	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9375007	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9375013	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9385187	0.84[EUR][1000 genomes]
rs9387920	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9387922	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9387924	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9387929	0.85[AMR][1000 genomes]
rs9398622	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9401368	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9401372	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9401373	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9401374	0.85[EUR][1000 genomes]
rs9401378	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9401380	0.85[AMR][1000 genomes]
rs9401382	0.83[AMR][1000 genomes]
rs9482118	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9482119	0.85[AMR][1000 genomes]
rs976611	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[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	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv604572	chr6:121465011-121544876	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121447200-121475000	Weak transcription	Primary B cells from cord blood	blood
2	chr6:121463600-121476800	Weak transcription	Gastric	stomach
3	chr6:121469400-121477800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:121472600-121481600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:121473200-121476200	ZNF genes & repeats	Dnd41	blood
6	chr6:121473400-121480600	Weak transcription	Small Intestine	intestine
7	chr6:121473400-121499000	Weak transcription	Right Ventricle	heart
8	chr6:121473600-121475200	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr6:121473800-121475200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:121473800-121475600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr6:121473800-121476000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:121473800-121476400	ZNF genes & repeats	Liver	Liver
13	chr6:121474000-121474800	ZNF genes & repeats	Fetal Brain Female	brain
14	chr6:121474000-121475400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:121474000-121475400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:121474000-121475600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr6:121474000-121475600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr6:121474000-121475600	ZNF genes & repeats	Fetal Intestine Large	intestine
19	chr6:121474000-121475600	ZNF genes & repeats	Placenta	Placenta
20	chr6:121474200-121474800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
21	chr6:121474200-121475000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
22	chr6:121474200-121475400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:121474200-121475400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:121474200-121475400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:121474200-121475400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:121474200-121475400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:121474200-121475400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr6:121474200-121475600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:121474200-121475600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr6:121474200-121475600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:121474200-121475600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:121474200-121475600	ZNF genes & repeats	Aorta	Aorta
33	chr6:121474200-121475600	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr6:121474200-121475600	ZNF genes & repeats	Fetal Stomach	stomach
35	chr6:121474200-121475600	Strong transcription	Ovary	ovary
36	chr6:121474200-121475800	ZNF genes & repeats	Fetal Lung	lung
37	chr6:121474200-121476800	Strong transcription	Primary T cells from cord blood	blood
38	chr6:121474200-121478400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:121474200-121478600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr6:121474200-121479600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr6:121474200-121483400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr6:121474400-121474800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:121474400-121474800	ZNF genes & repeats	Colonic Mucosa	Colon
44	chr6:121474400-121475200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:121474400-121475400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:121474400-121475400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:121474400-121475400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:121474400-121475400	ZNF genes & repeats	Fetal Muscle Leg	muscle
49	chr6:121474400-121475400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
50	chr6:121474400-121475600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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