Variant report

Variant	rs41311174
Chromosome Location	chr1:59041809-59041810
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	chr1:59039914..59042841-chr1:59125894..59128684,2	MCF-7	breast:
4	chr1:59039784..59042509-chr1:59074910..59077228,3	MCF-7	breast:
5	chr1:59007888..59009563-chr1:59039964..59042756,2	K562	blood:
6	chr1:59003237..59005403-chr1:59039825..59042747,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162600	Chromatin interaction
ENSG00000173406	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10218842	0.86[EUR][1000 genomes]
rs11207256	0.92[EUR][1000 genomes]
rs11207257	0.92[EUR][1000 genomes]
rs11799408	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11799415	0.86[EUR][1000 genomes]
rs11799786	0.86[EUR][1000 genomes]
rs11800241	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11801938	0.81[EUR][1000 genomes]
rs11802520	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807046	0.86[EUR][1000 genomes]
rs11808437	0.89[EUR][1000 genomes]
rs11808438	0.81[EUR][1000 genomes]
rs12024500	0.92[EUR][1000 genomes]
rs1503646	0.80[AMR][1000 genomes]
rs1503647	0.86[EUR][1000 genomes]
rs1503648	0.86[EUR][1000 genomes]
rs1627332	1.00[EUR][1000 genomes]
rs17117647	0.86[EUR][1000 genomes]
rs17117678	0.86[EUR][1000 genomes]
rs17447078	0.86[EUR][1000 genomes]
rs17506467	0.89[EUR][1000 genomes]
rs1775001	1.00[EUR][1000 genomes]
rs179798	0.87[EUR][1000 genomes]
rs1847350	0.84[EUR][1000 genomes]
rs1847351	0.86[EUR][1000 genomes]
rs232843	1.00[EUR][1000 genomes]
rs232845	1.00[EUR][1000 genomes]
rs232846	1.00[EUR][1000 genomes]
rs2406783	0.92[EUR][1000 genomes]
rs35075952	1.00[EUR][1000 genomes]
rs41296155	0.89[EUR][1000 genomes]
rs488606	0.92[EUR][1000 genomes]
rs4912196	0.80[AMR][1000 genomes]
rs4912341	0.86[EUR][1000 genomes]
rs4912342	0.86[EUR][1000 genomes]
rs4912343	0.86[EUR][1000 genomes]
rs4912345	0.81[EUR][1000 genomes]
rs4912346	0.81[EUR][1000 genomes]
rs4912347	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs492988	1.00[EUR][1000 genomes]
rs511687	1.00[EUR][1000 genomes]
rs512462	1.00[EUR][1000 genomes]
rs518070	0.99[EUR][1000 genomes]
rs530095	0.92[EUR][1000 genomes]
rs532134	0.92[EUR][1000 genomes]
rs542727	1.00[EUR][1000 genomes]
rs544596	1.00[EUR][1000 genomes]
rs546271	0.99[EUR][1000 genomes]
rs546358	1.00[EUR][1000 genomes]
rs548275	1.00[EUR][1000 genomes]
rs55712302	0.86[EUR][1000 genomes]
rs55721304	0.89[EUR][1000 genomes]
rs56109164	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs564252	0.99[EUR][1000 genomes]
rs565008	0.99[EUR][1000 genomes]
rs565617	1.00[EUR][1000 genomes]
rs565954	0.99[EUR][1000 genomes]
rs567787	0.96[EUR][1000 genomes]
rs573135	1.00[EUR][1000 genomes]
rs586847	1.00[EUR][1000 genomes]
rs593279	0.92[EUR][1000 genomes]
rs594973	1.00[EUR][1000 genomes]
rs595909	1.00[EUR][1000 genomes]
rs61779267	1.00[EUR][1000 genomes]
rs61779289	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61779290	1.00[EUR][1000 genomes]
rs61779294	0.93[EUR][1000 genomes]
rs61781785	0.80[AMR][1000 genomes]
rs61781789	0.80[AMR][1000 genomes]
rs61781792	0.86[EUR][1000 genomes]
rs61781813	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61781816	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61781818	0.86[EUR][1000 genomes]
rs61781819	0.83[EUR][1000 genomes]
rs61781821	0.81[EUR][1000 genomes]
rs61781822	0.81[EUR][1000 genomes]
rs61781823	0.81[EUR][1000 genomes]
rs61781824	0.81[EUR][1000 genomes]
rs621754	1.00[EUR][1000 genomes]
rs627633	1.00[EUR][1000 genomes]
rs628623	1.00[EUR][1000 genomes]
rs635775	1.00[EUR][1000 genomes]
rs641929	1.00[EUR][1000 genomes]
rs644928	0.92[EUR][1000 genomes]
rs654299	1.00[EUR][1000 genomes]
rs657202	0.97[EUR][1000 genomes]
rs657711	1.00[EUR][1000 genomes]
rs6587829	0.81[EUR][1000 genomes]
rs664570	1.00[EUR][1000 genomes]
rs6662905	0.85[EUR][1000 genomes]
rs6663128	0.81[EUR][1000 genomes]
rs6665320	0.92[EUR][1000 genomes]
rs6682499	0.89[EUR][1000 genomes]
rs6682661	0.89[EUR][1000 genomes]
rs6682720	0.89[EUR][1000 genomes]
rs6684437	0.89[EUR][1000 genomes]
rs6684553	0.89[EUR][1000 genomes]
rs6698355	0.89[EUR][1000 genomes]
rs671830	0.99[EUR][1000 genomes]
rs672859	0.99[EUR][1000 genomes]
rs673276	0.99[EUR][1000 genomes]
rs725907	0.81[EUR][1000 genomes]
rs7354819	0.86[EUR][1000 genomes]
rs7355030	0.86[EUR][1000 genomes]
rs7511732	0.89[EUR][1000 genomes]
rs7513876	0.92[EUR][1000 genomes]
rs7514159	0.92[EUR][1000 genomes]
rs7519465	1.00[EUR][1000 genomes]
rs7535313	0.81[EUR][1000 genomes]
rs7536984	0.86[EUR][1000 genomes]
rs7537470	0.81[EUR][1000 genomes]
rs7547348	0.92[EUR][1000 genomes]
rs7548097	0.89[EUR][1000 genomes]
rs9583	1.00[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
rs41311174	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59038400-59043600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:59040000-59042000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:59040000-59042000	Active TSS	Stomach Mucosa	stomach
4	chr1:59040200-59043400	Active TSS	NHEK	skin
5	chr1:59040200-59043600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:59040600-59042000	Bivalent/Poised TSS	Fetal Stomach	stomach
7	chr1:59040800-59043400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:59040800-59043400	Active TSS	Placenta Amnion	Placenta Amnion
9	chr1:59041000-59043200	Active TSS	HMEC	breast
10	chr1:59041200-59042000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:59041200-59042200	Transcr. at gene 5' and 3'	Esophagus	oesophagus
12	chr1:59041200-59042200	Active TSS	Lung	lung
13	chr1:59041200-59042800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:59041200-59043200	ZNF genes & repeats	GM12878-XiMat	blood
15	chr1:59041200-59044200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
16	chr1:59041400-59042200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
17	chr1:59041400-59043000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
18	chr1:59041400-59043200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:59041400-59043200	Active TSS	Hela-S3	cervix
20	chr1:59041400-59043400	Bivalent/Poised TSS	Fetal Kidney	kidney
21	chr1:59041400-59043800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:59041400-59043800	Bivalent Enhancer	Fetal Heart	heart
23	chr1:59041600-59042000	Bivalent Enhancer	Colon Smooth Muscle	Colon
24	chr1:59041600-59042200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr1:59041600-59042400	Bivalent/Poised TSS	Fetal Lung	lung
26	chr1:59041600-59043000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:59041600-59043000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr1:59041600-59043200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:59041600-59043200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:59041600-59043200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
31	chr1:59041600-59043200	Bivalent/Poised TSS	Thymus	Thymus
32	chr1:59041600-59043400	Active TSS	HUVEC	blood vessel
33	chr1:59041600-59043600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:59041800-59042000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:59041800-59042000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:59041800-59042000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:59041800-59042000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:59041800-59042000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:59041800-59042000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:59041800-59042000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:59041800-59042000	Bivalent Enhancer	Brain Substantia Nigra	brain
42	chr1:59041800-59042000	Bivalent Enhancer	Colonic Mucosa	Colon
43	chr1:59041800-59042000	Bivalent/Poised TSS	Fetal Brain Female	brain
44	chr1:59041800-59042000	Bivalent Enhancer	Fetal Intestine Large	intestine
45	chr1:59041800-59042000	Flanking Active TSS	Pancreas	Pancrea
46	chr1:59041800-59042000	Active TSS	Right Ventricle	heart
47	chr1:59041800-59042000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
48	chr1:59041800-59042200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:59041800-59042200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:59041800-59042200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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