Variant report

Variant	rs7129727
Chromosome Location	chr11:57484660-57484661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57483012..57485675-chr11:57487817..57489826,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10792112	0.82[EUR][1000 genomes]
rs10896633	0.80[EUR][1000 genomes]
rs10896636	0.83[EUR][1000 genomes]
rs10896647	0.84[EUR][1000 genomes]
rs11229113	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11229116	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11229130	0.82[EUR][1000 genomes]
rs11229131	0.83[EUR][1000 genomes]
rs11570190	0.84[EUR][1000 genomes]
rs11601449	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11602109	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11604325	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11604333	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11605731	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11606396	0.89[EUR][1000 genomes]
rs11607056	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12146541	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12362166	0.89[EUR][1000 genomes]
rs12785533	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12790196	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12804972	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12805841	0.89[EUR][1000 genomes]
rs12807250	0.82[EUR][1000 genomes]
rs1647405	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17455520	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2847308	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2926656	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35808061	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3781885	0.82[EUR][1000 genomes]
rs4827	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs488769	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs499188	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs527528	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs543725	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs547891	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs576859	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs708228	0.83[EUR][1000 genomes]
rs7116341	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7117878	0.81[EUR][1000 genomes]
rs7121169	0.88[EUR][1000 genomes]
rs71484461	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7938083	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7949841	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9420	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	58 gene(s)	inside rSNPs	diseases
7	nsv975188	chr11:57480320-57494198	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57480800-57485800	Weak transcription	Lung	lung
2	chr11:57481000-57485400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:57481000-57496200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:57481000-57508400	Weak transcription	Aorta	Aorta
5	chr11:57481200-57487200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:57481200-57508400	Weak transcription	Fetal Brain Male	brain
7	chr11:57481400-57485000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:57481400-57485000	Weak transcription	Spleen	Spleen
9	chr11:57481400-57485400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:57481400-57485400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:57481400-57485400	Weak transcription	Gastric	stomach
12	chr11:57481400-57485600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:57481400-57487600	Weak transcription	Placenta	Placenta
14	chr11:57481400-57490800	Weak transcription	Stomach Mucosa	stomach
15	chr11:57481400-57496400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:57481400-57500200	Weak transcription	Esophagus	oesophagus
17	chr11:57481400-57503200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:57481400-57505000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:57481400-57506000	Weak transcription	Pancreas	Pancrea
20	chr11:57481600-57485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:57481600-57485400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:57481600-57485600	Weak transcription	Right Ventricle	heart
23	chr11:57481600-57487600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:57481600-57488000	Weak transcription	HSMMtube	muscle
25	chr11:57481600-57492000	Weak transcription	Right Atrium	heart
26	chr11:57481600-57505000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:57481600-57505000	Weak transcription	Fetal Kidney	kidney
28	chr11:57481600-57505000	Weak transcription	NH-A	brain
29	chr11:57481600-57506200	Weak transcription	Colonic Mucosa	Colon
30	chr11:57481600-57508400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:57481800-57485200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:57481800-57485200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:57481800-57485400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:57481800-57485400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr11:57481800-57485400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:57481800-57496000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:57481800-57503000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:57481800-57503000	Weak transcription	HSMM	muscle
39	chr11:57481800-57505000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:57481800-57505000	Weak transcription	Fetal Lung	lung
41	chr11:57482000-57485200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:57482000-57485200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:57482000-57485200	Weak transcription	Brain Germinal Matrix	brain
44	chr11:57482000-57485400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:57482000-57485400	Weak transcription	Primary T cells from cord blood	blood
46	chr11:57482000-57485400	Weak transcription	Adipose Nuclei	Adipose
47	chr11:57482000-57485400	Weak transcription	Fetal Stomach	stomach
48	chr11:57482000-57487000	Weak transcription	NHDF-Ad	bronchial
49	chr11:57482000-57487200	Weak transcription	Fetal Brain Female	brain
50	chr11:57482000-57505000	Weak transcription	Brain Cingulate Gyrus	brain

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