Variant report

Variant	rs72789514
Chromosome Location	chr2:11444069-11444070
allele	A/C
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	RCOR1	chr2:11443747-11444139	K562	blood:	n/a	n/a
2	TEAD4	chr2:11443675-11444194	K562	blood:	n/a	n/a
3	NR2F2	chr2:11443737-11444078	K562	blood:	n/a	n/a
4	EP300	chr2:11443829-11444081	K562	blood:	n/a	n/a
5	TEAD4	chr2:11443801-11444077	K562	blood:	n/a	n/a
6	ATF1	chr2:11443755-11444070	K562	blood:	n/a	n/a
7	TAL1	chr2:11443763-11444128	K562	blood:	n/a	n/a
8	TBL1XR1	chr2:11443567-11444126	K562	blood:	n/a	n/a
9	ZNF384	chr2:11443857-11444155	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11436411..11439216-chr2:11442275..11444665,2	K562	blood:
2	chr2:11443856..11445730-chr2:11445772..11448144,2	K562	blood:

Variant related genes	Relation type
ENSG00000230154	TF binding region

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10205141	0.82[EUR][1000 genomes]
rs41264191	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41264193	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55657626	1.00[AMR][1000 genomes]
rs55737637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55750834	1.00[AMR][1000 genomes]
rs55841255	1.00[AMR][1000 genomes]
rs55932113	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56070302	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56268206	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56393775	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72771303	1.00[AMR][1000 genomes]
rs72771305	1.00[AMR][1000 genomes]
rs72774840	1.00[AMR][1000 genomes]
rs72785455	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785456	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785460	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785462	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72785465	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785466	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785468	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785469	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785471	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785473	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785474	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785475	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785476	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785478	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785479	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785480	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785483	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785487	1.00[AMR][1000 genomes]
rs72785488	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785489	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785491	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785496	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785497	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785500	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785501	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785502	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72787605	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72787609	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72787611	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72787619	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72787623	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72787626	1.00[AMR][1000 genomes]
rs72787632	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787638	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787642	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787646	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787651	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787659	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787662	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787664	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787665	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787669	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72787680	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787682	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787684	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787686	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787687	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787689	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787690	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787693	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787695	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787697	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787698	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787701	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789528	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72789529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789533	1.00[EUR][1000 genomes]
rs72789534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789547	1.00[AMR][1000 genomes]
rs7422435	1.00[AMR][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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats 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 miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11424800-11455200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:11426000-11444800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:11426600-11446000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:11428800-11444200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:11429000-11444800	Weak transcription	Left Ventricle	heart
6	chr2:11433200-11445600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:11433200-11446200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:11433600-11444600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:11433600-11446800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:11433600-11448000	Weak transcription	Right Ventricle	heart
11	chr2:11439200-11453000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:11440000-11445800	Weak transcription	Liver	Liver
13	chr2:11440200-11446000	Weak transcription	A549	lung
14	chr2:11441000-11445800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:11442200-11446000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:11442800-11447800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:11443000-11445200	Enhancers	K562	blood
18	chr2:11443200-11446400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:11443400-11444400	Weak transcription	Thymus	Thymus
20	chr2:11443400-11445000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:11443400-11446400	Enhancers	Ovary	ovary
22	chr2:11443400-11447200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:11443400-11447200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:11443600-11444200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:11443600-11444200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:11443600-11444600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:11443600-11445600	Weak transcription	Fetal Intestine Small	intestine
28	chr2:11443600-11445600	Weak transcription	Osteobl	bone
29	chr2:11443600-11446000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:11443600-11446600	Weak transcription	Fetal Intestine Large	intestine
31	chr2:11443600-11446800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:11443600-11447000	Enhancers	Adipose Nuclei	Adipose
33	chr2:11443800-11444800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:11443800-11444800	Weak transcription	Spleen	Spleen
35	chr2:11443800-11444800	Weak transcription	HSMM	muscle
36	chr2:11443800-11445600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:11443800-11449400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:11444000-11444400	Weak transcription	Psoas Muscle	Psoas
39	chr2:11444000-11444400	Weak transcription	Right Atrium	heart
40	chr2:11444000-11444800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:11444000-11444800	Enhancers	HepG2	liver
42	chr2:11444000-11445400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:11444000-11445600	Weak transcription	Brain Angular Gyrus	brain
44	chr2:11444000-11445600	Weak transcription	Fetal Heart	heart
45	chr2:11444000-11447400	Enhancers	Colon Smooth Muscle	Colon
46	chr2:11444000-11449800	Weak transcription	Aorta	Aorta
47	chr2:11444000-11458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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