Variant report

Variant	rs72792290
Chromosome Location	chr10:49550740-49550741
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49540944..49543155-chr10:49549106..49551548,2	MCF-7	breast:
2	chr10:49544127..49546033-chr10:49548139..49550800,2	K562	blood:
3	chr10:49523430..49525253-chr10:49550597..49552808,2	K562	blood:
4	chr10:49513460..49515934-chr10:49549553..49551759,2	K562	blood:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs17697837	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17697885	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17770615	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141515	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2289806	0.88[ASN][1000 genomes]
rs2889612	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34278434	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41306926	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55710197	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914834	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55923567	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56037570	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56103304	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56195836	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278337	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56361423	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56809322	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57775594	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57915819	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59797355	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60449431	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66738605	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66864000	0.86[EUR][1000 genomes]
rs66962508	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67071575	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67646014	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67967483	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72783089	0.87[AMR][1000 genomes]
rs72792260	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792262	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792264	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792269	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792272	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792274	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792284	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792285	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792295	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794355	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794356	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794358	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794369	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794372	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794376	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794378	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72796303	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72796304	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72796308	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
6	nsv6587	chr10:49526329-49571804	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49516400-49559600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:49522800-49550800	Weak transcription	Small Intestine	intestine
3	chr10:49525800-49551800	Weak transcription	Adipose Nuclei	Adipose
4	chr10:49526200-49552000	Weak transcription	NH-A	brain
5	chr10:49529000-49550800	Weak transcription	K562	blood
6	chr10:49530800-49554600	Weak transcription	Fetal Brain Male	brain
7	chr10:49538600-49551400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:49538800-49551200	Weak transcription	Brain Substantia Nigra	brain
9	chr10:49538800-49551400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:49539000-49551800	Weak transcription	NHLF	lung
11	chr10:49539200-49555000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:49539600-49553400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr10:49540400-49551200	Weak transcription	Ovary	ovary
14	chr10:49540400-49554000	Weak transcription	Pancreas	Pancrea
15	chr10:49540600-49551800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr10:49540800-49551600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr10:49541000-49551800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr10:49541000-49551800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr10:49541000-49554000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr10:49541200-49551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:49541200-49559400	Weak transcription	Fetal Lung	lung
22	chr10:49541400-49553800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:49542000-49554000	Weak transcription	Fetal Thymus	thymus
24	chr10:49542800-49551200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:49542800-49551200	Weak transcription	Aorta	Aorta
26	chr10:49542800-49551800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:49542800-49552000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr10:49542800-49568000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:49543000-49551000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr10:49543000-49551800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr10:49543000-49553800	Weak transcription	Right Ventricle	heart
32	chr10:49543000-49576200	Weak transcription	Right Atrium	heart
33	chr10:49543200-49552000	Weak transcription	Primary B cells from cord blood	blood
34	chr10:49543200-49554800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr10:49543200-49554800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:49545400-49552000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:49545800-49555800	Weak transcription	Primary T cells from cord blood	blood
38	chr10:49547000-49553600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr10:49548400-49551800	Weak transcription	GM12878-XiMat	blood
40	chr10:49548800-49551600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:49549000-49551000	Weak transcription	Fetal Heart	heart
42	chr10:49549000-49557000	Weak transcription	HSMMtube	muscle
43	chr10:49549200-49555200	Weak transcription	Dnd41	blood
44	chr10:49550000-49550800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr10:49550200-49551200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr10:49550200-49552200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr10:49550200-49553800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:49550400-49560800	Weak transcription	Psoas Muscle	Psoas
49	chr10:49550600-49551000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:49550600-49551000	Weak transcription	Left Ventricle	heart

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