Variant report

Variant	rs4442543
Chromosome Location	chr11:10306774-10306775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10305502..10307522-chr11:10309769..10312010,2	K562	blood:
2	chr11:10303426..10307423-chr11:10327783..10331801,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 149 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs10500721	0.88[ASN][1000 genomes]
rs10500722	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10500724	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10743131	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743132	0.85[ASN][1000 genomes]
rs10743133	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10770104	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10770105	0.98[ASN][1000 genomes]
rs10840379	0.85[ASN][1000 genomes]
rs10840380	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10840381	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840382	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840384	0.86[ASN][1000 genomes]
rs10840385	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11042656	0.81[ASN][1000 genomes]
rs11042657	0.81[ASN][1000 genomes]
rs11042659	0.81[ASN][1000 genomes]
rs11042661	0.81[ASN][1000 genomes]
rs11042662	0.88[ASN][1000 genomes]
rs11042663	0.81[ASN][1000 genomes]
rs11042664	0.81[ASN][1000 genomes]
rs11042666	0.82[ASN][1000 genomes]
rs11042686	0.83[ASN][1000 genomes]
rs11042687	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042689	0.85[ASN][1000 genomes]
rs11042702	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042703	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042712	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11042714	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042716	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042717	0.92[ASN][1000 genomes]
rs11042719	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1115454	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11602090	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11607174	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11607621	0.85[ASN][1000 genomes]
rs11821308	0.83[ASN][1000 genomes]
rs12275224	0.81[ASN][1000 genomes]
rs12278680	0.83[ASN][1000 genomes]
rs12279861	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12280005	0.82[ASN][1000 genomes]
rs12281409	0.83[ASN][1000 genomes]
rs12281526	0.81[ASN][1000 genomes]
rs12282974	0.83[ASN][1000 genomes]
rs12284884	0.81[ASN][1000 genomes]
rs12286545	0.83[ASN][1000 genomes]
rs12288200	0.81[ASN][1000 genomes]
rs12288275	0.81[ASN][1000 genomes]
rs12288654	0.81[ASN][1000 genomes]
rs12290748	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12418690	0.85[ASN][1000 genomes]
rs12419064	0.88[ASN][1000 genomes]
rs12419593	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12421666	0.83[ASN][1000 genomes]
rs1442733	0.81[ASN][1000 genomes]
rs1442736	0.81[ASN][1000 genomes]
rs1442738	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16907561	0.81[ASN][1000 genomes]
rs16907564	0.81[ASN][1000 genomes]
rs16907568	0.81[ASN][1000 genomes]
rs16907575	0.83[ASN][1000 genomes]
rs16907615	0.85[ASN][1000 genomes]
rs16907635	0.83[ASN][1000 genomes]
rs1822294	0.83[ASN][1000 genomes]
rs1822295	0.83[ASN][1000 genomes]
rs1867136	0.82[ASN][1000 genomes]
rs1867137	0.82[ASN][1000 genomes]
rs1867138	0.82[ASN][1000 genomes]
rs2044143	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2044144	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2060658	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2083715	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2083716	0.89[EUR][1000 genomes]
rs2083717	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119991	0.82[ASN][1000 genomes]
rs2278634	0.84[ASN][1000 genomes]
rs2920147	0.91[ASN][1000 genomes]
rs2957671	0.85[ASN][1000 genomes]
rs2957674	0.85[ASN][1000 genomes]
rs2957699	0.85[ASN][1000 genomes]
rs34051776	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34087225	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34692066	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34739790	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35598338	0.85[ASN][1000 genomes]
rs35737881	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35752075	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs36167833	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36170347	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4267063	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4323860	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4418806	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4482025	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4491213	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4597056	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910097	0.83[EUR][1000 genomes]
rs4910107	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4910108	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4910115	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55893317	0.85[ASN][1000 genomes]
rs55933041	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56063978	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56319831	0.83[ASN][1000 genomes]
rs56758314	0.86[ASN][1000 genomes]
rs56776911	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57595438	0.81[ASN][1000 genomes]
rs57761181	0.83[ASN][1000 genomes]
rs58054521	0.83[ASN][1000 genomes]
rs58340019	0.83[ASN][1000 genomes]
rs59829967	0.82[ASN][1000 genomes]
rs59901009	0.83[ASN][1000 genomes]
rs60319025	0.81[ASN][1000 genomes]
rs61877260	0.83[ASN][1000 genomes]
rs61878638	0.83[ASN][1000 genomes]
rs61889798	0.85[ASN][1000 genomes]
rs61889955	0.86[ASN][1000 genomes]
rs6484141	0.80[EUR][1000 genomes]
rs6484147	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6484148	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6484152	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6484160	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7106998	0.86[EUR][1000 genomes]
rs7107040	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7107290	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7107399	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7107951	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7108358	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7110652	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7111724	0.80[ASN][1000 genomes]
rs7115142	0.88[ASN][1000 genomes]
rs7115944	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7116147	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7118500	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7123728	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7129531	0.83[ASN][1000 genomes]
rs716803	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs726102	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7479039	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7924631	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7933018	0.85[ASN][1000 genomes]
rs7938543	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7944706	0.80[EUR][1000 genomes]
rs7945930	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7947666	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7950461	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7952105	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7952229	0.84[ASN][1000 genomes]
rs9735682	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4442543	RP11-351I24.1	cis	Whole Blood	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10278200-10309200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:10279000-10311400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:10290000-10313400	Weak transcription	Fetal Brain Male	brain
4	chr11:10290800-10309000	Weak transcription	HSMMtube	muscle
5	chr11:10291200-10313600	Weak transcription	NHEK	skin
6	chr11:10291200-10314400	Weak transcription	HSMM	muscle
7	chr11:10291400-10309000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:10294200-10309600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:10294200-10311400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:10295600-10307000	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:10297000-10309600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:10297800-10309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:10298200-10307000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:10298200-10313400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:10299400-10308600	Weak transcription	NHLF	lung
16	chr11:10299400-10314800	Weak transcription	Small Intestine	intestine
17	chr11:10299600-10310400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:10299800-10314400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:10304000-10306800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:10304000-10312400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:10304600-10307600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:10304800-10308800	Weak transcription	Fetal Intestine Large	intestine
23	chr11:10304800-10308800	Weak transcription	Fetal Intestine Small	intestine
24	chr11:10304800-10308800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:10305000-10308400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:10305200-10306800	Weak transcription	Hela-S3	cervix
27	chr11:10305600-10307600	Enhancers	Adipose Nuclei	Adipose
28	chr11:10305800-10307800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr11:10306000-10307800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:10306000-10307800	Enhancers	HepG2	liver
31	chr11:10306200-10306800	Enhancers	Ovary	ovary
32	chr11:10306200-10307000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:10306200-10307000	Enhancers	Psoas Muscle	Psoas
34	chr11:10306200-10307000	Enhancers	Right Atrium	heart
35	chr11:10306200-10307400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr11:10306200-10307400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:10306200-10307800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:10306200-10307800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr11:10306200-10309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:10306400-10307000	Weak transcription	Primary B cells from cord blood	blood
41	chr11:10306400-10307200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr11:10306400-10309000	Weak transcription	Right Ventricle	heart
43	chr11:10306400-10313800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:10306600-10306800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:10306600-10306800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:10306600-10306800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:10306600-10306800	Enhancers	Esophagus	oesophagus
48	chr11:10306600-10306800	Enhancers	Placenta	Placenta
49	chr11:10306600-10306800	Enhancers	Lung	lung
50	chr11:10306600-10306800	Enhancers	Spleen	Spleen

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