Variant report

Variant	rs72785120
Chromosome Location	chr10:49717579-49717580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49713932..49717816-chr10:49742746..49746059,3	K562	blood:
2	chr10:49714827..49719872-chr10:49861427..49864767,4	K562	blood:
3	chr10:49715021..49718761-chr10:49720982..49725227,3	K562	blood:
4	chr10:49713826..49717579-chr10:49717710..49719906,5	K562	blood:
5	chr10:49579606..49581410-chr10:49715776..49718367,2	K562	blood:
6	chr10:49676784..49678693-chr10:49717036..49719541,2	K562	blood:
7	chr10:49714562..49719396-chr10:49719920..49724610,6	K562	blood:
8	chr10:49516068..49518164-chr10:49716922..49719391,2	K562	blood:
9	chr10:49716373..49718615-chr10:49727056..49729940,2	MCF-7	breast:
10	chr10:49715470..49718862-chr10:49725582..49728629,3	K562	blood:
11	chr10:49703894..49706471-chr10:49715514..49717897,2	K562	blood:
12	chr10:49571145..49574084-chr10:49715215..49717894,2	MCF-7	breast:
13	chr10:49663675..49666041-chr10:49714852..49717938,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction
ENSG00000248682	Chromatin interaction
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10400143	0.83[ASN][1000 genomes]
rs10776614	0.83[ASN][1000 genomes]
rs10776615	0.83[ASN][1000 genomes]
rs10857592	0.93[ASN][1000 genomes]
rs10857596	0.83[ASN][1000 genomes]
rs11101362	0.93[ASN][1000 genomes]
rs11101364	0.93[ASN][1000 genomes]
rs11101368	0.93[ASN][1000 genomes]
rs11101381	0.83[ASN][1000 genomes]
rs11591281	0.93[ASN][1000 genomes]
rs11812546	0.82[ASN][1000 genomes]
rs12358311	0.83[ASN][1000 genomes]
rs12358315	0.83[ASN][1000 genomes]
rs1345109	0.83[ASN][1000 genomes]
rs1345110	0.83[ASN][1000 genomes]
rs1345111	0.83[ASN][1000 genomes]
rs1445148	0.83[ASN][1000 genomes]
rs1445154	0.95[ASN][1000 genomes]
rs1838568	0.83[ASN][1000 genomes]
rs1838569	0.83[ASN][1000 genomes]
rs1838570	0.83[ASN][1000 genomes]
rs1838573	0.90[ASN][1000 genomes]
rs1838574	0.88[ASN][1000 genomes]
rs1900021	0.90[ASN][1000 genomes]
rs1965170	0.83[ASN][1000 genomes]
rs2077152	0.83[ASN][1000 genomes]
rs34983450	0.93[ASN][1000 genomes]
rs4101278	0.90[ASN][1000 genomes]
rs41510345	0.95[ASN][1000 genomes]
rs4450130	0.93[ASN][1000 genomes]
rs56058334	0.83[ASN][1000 genomes]
rs56080723	0.90[ASN][1000 genomes]
rs56248718	0.90[ASN][1000 genomes]
rs57601353	0.93[ASN][1000 genomes]
rs60214846	0.87[ASN][1000 genomes]
rs66695288	0.93[ASN][1000 genomes]
rs67372461	0.93[ASN][1000 genomes]
rs7071095	0.83[ASN][1000 genomes]
rs7071480	0.83[ASN][1000 genomes]
rs7074631	0.83[ASN][1000 genomes]
rs7085183	0.83[ASN][1000 genomes]
rs7085335	0.81[ASN][1000 genomes]
rs7088010	0.83[ASN][1000 genomes]
rs7089439	0.88[ASN][1000 genomes]
rs7094216	0.83[ASN][1000 genomes]
rs7098068	0.83[ASN][1000 genomes]
rs7350424	0.83[ASN][1000 genomes]
rs7350439	0.83[ASN][1000 genomes]
rs7895980	0.82[ASN][1000 genomes]
rs7904456	0.83[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	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
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv516006	chr10:49707942-49723300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49702400-49718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:49706000-49723400	Weak transcription	NH-A	brain
4	chr10:49709200-49720600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:49710000-49718600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:49710600-49718600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:49710600-49719200	Weak transcription	Pancreas	Pancrea
8	chr10:49711800-49718400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:49712600-49717800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:49712800-49718000	Weak transcription	Fetal Thymus	thymus
11	chr10:49713000-49719200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:49714000-49727200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:49715400-49718200	Enhancers	HUVEC	blood vessel
14	chr10:49715800-49727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:49716200-49717600	Enhancers	Adipose Nuclei	Adipose
16	chr10:49716200-49717800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr10:49716200-49718000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr10:49716200-49718400	Enhancers	Right Ventricle	heart
19	chr10:49716200-49718800	Enhancers	Primary hematopoietic stem cells	blood
20	chr10:49716400-49717800	Enhancers	Left Ventricle	heart
21	chr10:49716400-49717800	Enhancers	Right Atrium	heart
22	chr10:49716400-49717800	Enhancers	Spleen	Spleen
23	chr10:49716400-49718000	Enhancers	Brain Substantia Nigra	brain
24	chr10:49716400-49718000	Enhancers	Fetal Muscle Leg	muscle
25	chr10:49716600-49717600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:49716600-49717800	Enhancers	Brain Angular Gyrus	brain
27	chr10:49716600-49717800	Enhancers	Fetal Stomach	stomach
28	chr10:49716600-49717800	Enhancers	HSMMtube	muscle
29	chr10:49716600-49718000	Enhancers	Brain Cingulate Gyrus	brain
30	chr10:49716600-49718400	Enhancers	Brain Hippocampus Middle	brain
31	chr10:49716600-49718400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr10:49716600-49719200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr10:49716800-49718200	Enhancers	Fetal Heart	heart
34	chr10:49716800-49718400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr10:49716800-49721400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:49717000-49717600	Bivalent Enhancer	Placenta	Placenta
37	chr10:49717000-49718400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:49717000-49719800	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr10:49717200-49718400	Weak transcription	Osteobl	bone
40	chr10:49717200-49719200	Strong transcription	NHLF	lung
41	chr10:49717200-49719800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:49717200-49719800	Weak transcription	Brain Anterior Caudate	brain
43	chr10:49717200-49721400	Weak transcription	HSMM	muscle
44	chr10:49717400-49718000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr10:49717400-49719000	Weak transcription	NHDF-Ad	bronchial
46	chr10:49717400-49719400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr10:49717400-49719400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:49717400-49719400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr10:49717400-49719800	Weak transcription	K562	blood
50	chr10:49717400-49721000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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