Variant report

Variant	rs61779294
Chromosome Location	chr1:59042997-59042998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59009849..59013755-chr1:59040870..59045611,9	MCF-7	breast:
2	chr1:59010302..59014215-chr1:59041338..59045361,8	MCF-7	breast:
3	chr1:59042150..59043809-chr1:59165578..59167965,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173406	Chromatin interaction
ENSG00000162601	Chromatin interaction
ENSG00000162600	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10218842	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11207256	0.86[EUR][1000 genomes]
rs11207257	0.86[EUR][1000 genomes]
rs11799408	0.93[EUR][1000 genomes]
rs11799415	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11799786	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11800241	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11802520	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11807046	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11808437	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12024500	0.86[EUR][1000 genomes]
rs1503647	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1503648	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1627332	0.93[EUR][1000 genomes]
rs17117647	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17117678	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17447078	0.81[EUR][1000 genomes]
rs17506467	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1775001	0.93[EUR][1000 genomes]
rs179798	0.84[EUR][1000 genomes]
rs1847350	0.82[AMR][1000 genomes]
rs1847351	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs232843	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs232845	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs232846	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2406783	0.86[EUR][1000 genomes]
rs35075952	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41296155	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41311174	0.93[EUR][1000 genomes]
rs488606	0.86[EUR][1000 genomes]
rs4912341	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4912342	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4912343	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4912347	0.86[EUR][1000 genomes]
rs492988	0.93[EUR][1000 genomes]
rs511687	0.93[EUR][1000 genomes]
rs512462	0.93[EUR][1000 genomes]
rs518070	0.92[EUR][1000 genomes]
rs530095	0.86[EUR][1000 genomes]
rs532134	0.86[EUR][1000 genomes]
rs542727	0.93[EUR][1000 genomes]
rs544596	0.93[EUR][1000 genomes]
rs546271	0.92[EUR][1000 genomes]
rs546358	0.93[EUR][1000 genomes]
rs548275	0.93[EUR][1000 genomes]
rs55712302	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55721304	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56109164	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs564252	0.92[EUR][1000 genomes]
rs565008	0.92[EUR][1000 genomes]
rs565617	0.93[EUR][1000 genomes]
rs565954	0.92[EUR][1000 genomes]
rs567787	0.90[EUR][1000 genomes]
rs573135	0.93[EUR][1000 genomes]
rs586847	0.93[EUR][1000 genomes]
rs593279	0.86[EUR][1000 genomes]
rs594973	0.93[EUR][1000 genomes]
rs595909	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61779267	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61779289	0.93[EUR][1000 genomes]
rs61779290	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61781792	0.81[EUR][1000 genomes]
rs61781813	0.81[EUR][1000 genomes]
rs61781816	0.81[EUR][1000 genomes]
rs61781818	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61781819	0.82[AMR][1000 genomes]
rs621754	0.93[EUR][1000 genomes]
rs627633	0.93[EUR][1000 genomes]
rs628623	0.93[EUR][1000 genomes]
rs635775	0.93[EUR][1000 genomes]
rs641929	0.93[EUR][1000 genomes]
rs644928	0.86[EUR][1000 genomes]
rs654299	0.93[EUR][1000 genomes]
rs657202	0.91[EUR][1000 genomes]
rs657711	0.93[EUR][1000 genomes]
rs664570	0.93[EUR][1000 genomes]
rs6662905	0.82[AMR][1000 genomes]
rs6663128	0.82[AMR][1000 genomes]
rs6665320	0.86[EUR][1000 genomes]
rs6682499	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6682661	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6682720	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6684437	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6684553	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6698355	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs671830	0.92[EUR][1000 genomes]
rs672859	0.92[EUR][1000 genomes]
rs673276	0.92[EUR][1000 genomes]
rs725907	0.83[AMR][1000 genomes]
rs7354819	0.81[EUR][1000 genomes]
rs7355030	0.81[EUR][1000 genomes]
rs7511732	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7513876	0.86[EUR][1000 genomes]
rs7514159	0.86[EUR][1000 genomes]
rs7519465	0.93[EUR][1000 genomes]
rs7536984	0.81[EUR][1000 genomes]
rs7547348	0.86[EUR][1000 genomes]
rs7548097	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9583	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][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	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61779294	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59038400-59043600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:59040200-59043400	Active TSS	NHEK	skin
3	chr1:59040200-59043600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:59040800-59043400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:59040800-59043400	Active TSS	Placenta Amnion	Placenta Amnion
6	chr1:59041000-59043200	Active TSS	HMEC	breast
7	chr1:59041200-59043200	ZNF genes & repeats	GM12878-XiMat	blood
8	chr1:59041200-59044200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr1:59041400-59043000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
10	chr1:59041400-59043200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr1:59041400-59043200	Active TSS	Hela-S3	cervix
12	chr1:59041400-59043400	Bivalent/Poised TSS	Fetal Kidney	kidney
13	chr1:59041400-59043800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:59041400-59043800	Bivalent Enhancer	Fetal Heart	heart
15	chr1:59041600-59043000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:59041600-59043000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:59041600-59043200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:59041600-59043200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:59041600-59043200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
20	chr1:59041600-59043200	Bivalent/Poised TSS	Thymus	Thymus
21	chr1:59041600-59043400	Active TSS	HUVEC	blood vessel
22	chr1:59041600-59043600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:59041800-59043000	Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr1:59041800-59043200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:59041800-59043200	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr1:59041800-59043200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr1:59041800-59043200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:59041800-59043200	Active TSS	Gastric	stomach
29	chr1:59041800-59043200	Bivalent/Poised TSS	Osteobl	bone
30	chr1:59041800-59043600	Bivalent Enhancer	Fetal Brain Male	brain
31	chr1:59042000-59043000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:59042000-59043000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
33	chr1:59042000-59043000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
34	chr1:59042000-59043000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
35	chr1:59042000-59043200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:59042000-59043200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:59042000-59043200	Flanking Active TSS	Right Ventricle	heart
38	chr1:59042000-59043400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr1:59042000-59043400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
40	chr1:59042000-59043400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
41	chr1:59042000-59043800	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:59042200-59043000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:59042200-59043000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:59042200-59043000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr1:59042200-59043000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:59042200-59043000	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:59042200-59043200	Active TSS	Aorta	Aorta
48	chr1:59042200-59043400	Flanking Active TSS	Lung	lung
49	chr1:59042200-59043400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
50	chr1:59042200-59043600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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