Variant report

Variant	rs72851670
Chromosome Location	chr11:10338481-10338482
allele	A/G
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	MAZ	chr11:10338442-10338485	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10324179..10326085-chr11:10337865..10340352,2	MCF-7	breast:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000254554	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1372810	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450265	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450266	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450268	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450275	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450276	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470686	0.96[EUR][1000 genomes]
rs1597450	0.88[EUR][1000 genomes]
rs16907654	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17292774	1.00[ASN][1000 genomes]
rs17294609	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17294693	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17295786	0.81[EUR][1000 genomes]
rs17296211	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17296765	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17358721	1.00[ASN][1000 genomes]
rs17358882	1.00[ASN][1000 genomes]
rs17359382	1.00[ASN][1000 genomes]
rs17360118	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2044781	0.91[EUR][1000 genomes]
rs28733206	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920149	0.80[EUR][1000 genomes]
rs2957657	0.82[EUR][1000 genomes]
rs2957686	0.96[EUR][1000 genomes]
rs4077089	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4403799	0.90[EUR][1000 genomes]
rs61877263	0.80[AMR][1000 genomes]
rs61877264	1.00[ASN][1000 genomes]
rs61878654	1.00[ASN][1000 genomes]
rs61878655	1.00[ASN][1000 genomes]
rs61878657	1.00[ASN][1000 genomes]
rs61878658	1.00[ASN][1000 genomes]
rs61878659	1.00[ASN][1000 genomes]
rs61880160	1.00[ASN][1000 genomes]
rs61889783	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889785	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889795	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889796	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889802	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889815	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889816	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889817	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889836	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889840	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889842	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889843	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889845	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889846	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889847	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889957	1.00[ASN][1000 genomes]
rs61891762	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891768	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891770	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891771	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61891773	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891774	0.89[AMR][1000 genomes]
rs61891775	0.98[EUR][1000 genomes]
rs61891776	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891788	0.83[AFR][1000 genomes]
rs61891793	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892569	1.00[ASN][1000 genomes]
rs61892570	1.00[ASN][1000 genomes]
rs61892572	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61892573	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61892575	1.00[ASN][1000 genomes]
rs61892593	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892594	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892595	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892596	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892597	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484142	0.82[EUR][1000 genomes]
rs7103637	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104591	1.00[ASN][1000 genomes]
rs7105355	1.00[ASN][1000 genomes]
rs7107373	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108385	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109096	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111544	1.00[ASN][1000 genomes]
rs7111647	1.00[ASN][1000 genomes]
rs7120043	1.00[ASN][1000 genomes]
rs7122370	1.00[ASN][1000 genomes]
rs7123541	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125823	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129220	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850458	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851648	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851674	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861738	1.00[ASN][1000 genomes]
rs72861762	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72861767	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72861799	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7929332	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7930218	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933724	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935257	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939531	1.00[ASN][1000 genomes]
rs7941320	0.91[EUR][1000 genomes]
rs7941557	0.97[EUR][1000 genomes]
rs7945990	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947210	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949974	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896043	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9705133	0.96[EUR][1000 genomes];1.00[ASN][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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10330200-10338600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:10330800-10339400	Weak transcription	Psoas Muscle	Psoas
3	chr11:10330800-10344400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:10331000-10340000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:10331000-10340000	Weak transcription	Spleen	Spleen
6	chr11:10331200-10338600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:10331200-10338600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:10331400-10343800	Weak transcription	NHLF	lung
9	chr11:10331800-10338600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:10331800-10339000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:10331800-10344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:10332200-10338600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:10332200-10338600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:10332200-10338600	Weak transcription	Left Ventricle	heart
15	chr11:10332400-10338600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:10332400-10338600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:10332400-10338600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:10332400-10338600	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:10332400-10338600	Weak transcription	Ovary	ovary
20	chr11:10332400-10340000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:10332400-10340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:10336400-10338600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:10336400-10338600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:10336400-10338600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:10336400-10339200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:10336400-10343400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:10336400-10344000	Weak transcription	Osteobl	bone
28	chr11:10336600-10338600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr11:10336600-10338600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:10336600-10338600	Weak transcription	Brain Anterior Caudate	brain
31	chr11:10336600-10338600	Weak transcription	A549	lung
32	chr11:10336600-10338600	Weak transcription	HepG2	liver
33	chr11:10336600-10339000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:10336600-10340000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:10336600-10343200	Weak transcription	Stomach Mucosa	stomach
36	chr11:10337000-10338600	Weak transcription	Small Intestine	intestine
37	chr11:10337000-10339800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:10337800-10338600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:10337800-10339800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:10337800-10342200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:10337800-10343400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:10338200-10339200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:10338400-10338600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:10338400-10338600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:10338400-10338800	Enhancers	Rectal Smooth Muscle	rectum
46	chr11:10338400-10338800	Enhancers	HUVEC	blood vessel
47	chr11:10338400-10339000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:10338400-10339000	Enhancers	Fetal Lung	lung
49	chr11:10338400-10339600	Enhancers	Brain Hippocampus Middle	brain
50	chr11:10338400-10339800	Enhancers	Duodenum Smooth Muscle	Duodenum

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