Variant report

Variant	rs72792269
Chromosome Location	chr10:49521614-49521615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49521352..49523336-chr10:49525109..49528054,2	MCF-7	breast:
2	chr10:49520506..49525716-chr10:49528736..49531606,6	K562	blood:
3	chr10:49518118..49521667-chr10:49532319..49534589,3	K562	blood:
4	chr10:49515905..49518176-chr10:49521604..49523677,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs17697837	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17697885	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17770615	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141515	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2289806	0.88[ASN][1000 genomes]
rs2889612	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34278434	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41306926	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55710197	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914834	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55923567	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56037570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56103304	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56195836	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278337	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56361423	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56809322	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57775594	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57915819	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59797355	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60449431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66738605	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66864000	0.87[EUR][1000 genomes]
rs66962508	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67071575	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67646014	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67967483	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72792260	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792262	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792264	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792274	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792284	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792285	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792290	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792295	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794355	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794356	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794358	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794369	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794372	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794376	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794378	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72796303	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72796304	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72796308	0.86[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	nsv550812	chr10:49484698-49524715	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49515600-49525600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:49515600-49541400	Weak transcription	Lung	lung
3	chr10:49515800-49522200	Weak transcription	Aorta	Aorta
4	chr10:49516000-49524600	Weak transcription	Stomach Mucosa	stomach
5	chr10:49516000-49525400	Weak transcription	Left Ventricle	heart
6	chr10:49516000-49525600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:49516000-49525600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:49516200-49524400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:49516400-49521800	Weak transcription	Right Ventricle	heart
10	chr10:49516400-49525400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:49516400-49525600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr10:49516400-49525600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr10:49516400-49525600	Weak transcription	Brain Anterior Caudate	brain
14	chr10:49516400-49526400	Weak transcription	Brain Substantia Nigra	brain
15	chr10:49516400-49528000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr10:49516400-49528600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:49516400-49535000	Weak transcription	Fetal Muscle Leg	muscle
18	chr10:49516400-49538400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr10:49516400-49538800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr10:49516400-49541400	Weak transcription	Right Atrium	heart
21	chr10:49516400-49547200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr10:49516400-49559600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr10:49516600-49525200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr10:49516600-49525400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:49516600-49538400	Weak transcription	Primary B cells from cord blood	blood
26	chr10:49516600-49538600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr10:49516600-49538600	Weak transcription	Fetal Stomach	stomach
28	chr10:49516800-49524400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr10:49517600-49525400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:49517800-49522600	Weak transcription	Brain Hippocampus Middle	brain
31	chr10:49517800-49544600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:49518000-49522400	Weak transcription	Brain Angular Gyrus	brain
33	chr10:49518000-49526800	Weak transcription	Gastric	stomach
34	chr10:49518000-49528800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:49518000-49536000	Weak transcription	Fetal Intestine Small	intestine
36	chr10:49518200-49522400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr10:49518200-49524200	Weak transcription	Fetal Kidney	kidney
38	chr10:49518200-49524400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr10:49518200-49527600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:49518200-49542200	Weak transcription	HSMM	muscle
41	chr10:49518400-49522400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr10:49518400-49525400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:49518400-49525600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr10:49518400-49525600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr10:49518400-49525600	Weak transcription	NH-A	brain
46	chr10:49518400-49526000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:49518600-49522800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr10:49518600-49524400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr10:49518600-49538400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr10:49518800-49524400	Weak transcription	Psoas Muscle	Psoas

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