Variant report

Variant	rs61891771
Chromosome Location	chr11:10348715-10348716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr11:10348710-10349270	HUVEC	blood vessel:	n/a	n/a
2	FOXA2	chr11:10347689-10348810	HepG2	liver:	n/a	n/a
3	TCF12	chr11:10347316-10349347	A549	lung:	n/a	chr11:10348090-10348100
4	NFIC	chr11:10348624-10349230	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
AMPD3	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1372810	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1450265	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1450266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1450268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1450275	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1450276	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1470686	0.97[EUR][1000 genomes]
rs1597450	0.89[EUR][1000 genomes]
rs16907654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17292774	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17294609	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17294693	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17295786	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17296211	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17296765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17358721	0.86[AMR][1000 genomes]
rs17358882	0.86[AMR][1000 genomes]
rs17359382	0.86[AMR][1000 genomes]
rs17360118	0.95[AMR][1000 genomes]
rs2044781	0.92[EUR][1000 genomes]
rs28733206	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2920149	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2957657	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2957686	0.97[EUR][1000 genomes]
rs4077089	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4403799	0.89[EUR][1000 genomes]
rs61877264	0.86[AMR][1000 genomes]
rs61878652	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61878654	0.82[AMR][1000 genomes]
rs61878655	0.82[AMR][1000 genomes]
rs61878657	0.86[AMR][1000 genomes]
rs61878658	0.86[AMR][1000 genomes]
rs61878659	0.86[AMR][1000 genomes]
rs61880160	0.86[AMR][1000 genomes]
rs61889783	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61889785	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61889795	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61889796	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61889802	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61889815	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61889816	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61889817	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61889836	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61889840	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61889842	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61889843	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61889845	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61889846	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61889847	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61889956	0.91[AMR][1000 genomes]
rs61889957	0.91[AMR][1000 genomes]
rs61891762	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61891764	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61891767	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61891768	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61891770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61891773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61891775	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61891776	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61891793	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs61892569	0.91[AMR][1000 genomes]
rs61892570	0.91[AMR][1000 genomes]
rs61892572	1.00[AMR][1000 genomes]
rs61892573	1.00[AMR][1000 genomes]
rs61892575	0.87[AMR][1000 genomes]
rs61892593	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61892594	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61892595	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61892596	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61892597	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6484142	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7103637	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7104591	0.86[AMR][1000 genomes]
rs7105355	0.86[AMR][1000 genomes]
rs7107373	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7108385	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7109096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7111544	0.91[AMR][1000 genomes]
rs7111647	0.91[AMR][1000 genomes]
rs7123467	0.82[AMR][1000 genomes]
rs7123541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7125823	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7129220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72850458	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72851648	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72851670	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72851674	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72861738	0.91[AMR][1000 genomes]
rs72861762	0.81[AMR][1000 genomes]
rs72861767	0.95[AMR][1000 genomes]
rs7929332	0.95[AMR][1000 genomes]
rs7930218	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7933724	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7935257	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7941320	0.92[EUR][1000 genomes]
rs7941557	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7945990	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7947210	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7949974	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs896043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9705133	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10339600-10348800	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:10340400-10350000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:10342800-10351600	Enhancers	Adipose Nuclei	Adipose
4	chr11:10343200-10351000	Enhancers	Stomach Mucosa	stomach
5	chr11:10343400-10353400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:10343800-10350200	Enhancers	NHLF	lung
7	chr11:10344000-10349600	Enhancers	HUVEC	blood vessel
8	chr11:10344000-10351600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:10344000-10353200	Enhancers	NH-A	brain
10	chr11:10344000-10353400	Enhancers	Osteobl	bone
11	chr11:10344400-10349000	Enhancers	Aorta	Aorta
12	chr11:10344400-10351600	Enhancers	Ovary	ovary
13	chr11:10344600-10349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:10344600-10350000	Weak transcription	HMEC	breast
15	chr11:10344600-10350200	Weak transcription	Brain Substantia Nigra	brain
16	chr11:10344600-10351000	Enhancers	Colon Smooth Muscle	Colon
17	chr11:10344600-10353200	Enhancers	Hela-S3	cervix
18	chr11:10344600-10353800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:10344800-10349800	Weak transcription	Fetal Heart	heart
20	chr11:10344800-10350000	Weak transcription	NHEK	skin
21	chr11:10345200-10350000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:10345600-10349600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:10345600-10354000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:10345800-10349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:10346000-10349000	Enhancers	Stomach Smooth Muscle	stomach
26	chr11:10346000-10349800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:10346000-10350000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:10346000-10350200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:10346200-10349000	Enhancers	Fetal Muscle Leg	muscle
30	chr11:10346200-10350600	Enhancers	Small Intestine	intestine
31	chr11:10347000-10349000	Enhancers	Right Atrium	heart
32	chr11:10347200-10351600	Enhancers	Fetal Intestine Large	intestine
33	chr11:10347200-10353600	Enhancers	NHDF-Ad	bronchial
34	chr11:10347400-10349000	Enhancers	Gastric	stomach
35	chr11:10347400-10349200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr11:10347400-10349800	Enhancers	Pancreas	Pancrea
37	chr11:10347400-10349800	Enhancers	Right Ventricle	heart
38	chr11:10347600-10349200	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr11:10347600-10350000	Weak transcription	Fetal Lung	lung
40	chr11:10347600-10350200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:10347600-10350600	Enhancers	Duodenum Mucosa	Duodenum
42	chr11:10347600-10351600	Enhancers	Fetal Intestine Small	intestine
43	chr11:10347800-10348800	Enhancers	Colonic Mucosa	Colon
44	chr11:10347800-10349000	Enhancers	Brain Anterior Caudate	brain
45	chr11:10347800-10349200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr11:10347800-10349800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:10347800-10350000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr11:10347800-10351000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr11:10347800-10351000	Enhancers	Placenta	Placenta
50	chr11:10348000-10348800	Enhancers	Skeletal Muscle Male	skeletal muscle

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