Variant report

Variant	rs278836
Chromosome Location	chr1:78116811-78116812
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	chr1:78116325..78118915-chr1:78120651..78122280,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1038983	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10873953	0.89[ASN][1000 genomes]
rs10873955	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11162365	0.88[EUR][1000 genomes]
rs11162366	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11162368	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11162369	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11162370	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11162372	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11162374	0.90[ASN][1000 genomes]
rs11162378	0.90[ASN][1000 genomes]
rs11162380	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11162383	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11162386	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11162387	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11578805	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1166584	0.80[AMR][1000 genomes]
rs12026939	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12135104	0.91[ASN][1000 genomes]
rs12142671	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12717767	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12717768	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1389789	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1389790	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1565852	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs166770	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs203229	0.94[ASN][1000 genomes]
rs2147318	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2296227	0.86[ASN][1000 genomes]
rs278832	0.85[ASN][1000 genomes]
rs278833	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs278834	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278837	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278840	0.91[ASN][1000 genomes]
rs278841	0.90[ASN][1000 genomes]
rs278842	0.91[ASN][1000 genomes]
rs278843	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs278844	0.88[ASN][1000 genomes]
rs278847	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs278848	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs278850	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278851	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs278854	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs278855	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs278856	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs278857	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs278858	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs278859	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs278860	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs278863	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs278864	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs366467	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs370335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs371076	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3767037	0.85[ASN][1000 genomes]
rs4949661	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4949814	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4949816	0.88[EUR][1000 genomes]
rs4949817	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4949818	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4949822	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56688304	0.86[EUR][1000 genomes]
rs574973	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6603955	0.81[EUR][1000 genomes]
rs6603956	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6603958	0.90[ASN][1000 genomes]
rs6603960	0.81[ASN][1000 genomes]
rs6657290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6661656	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670660	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6672200	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6674638	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6687501	0.84[ASN][1000 genomes]
rs6687596	0.86[EUR][1000 genomes]
rs6691317	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6693100	0.81[EUR][1000 genomes]
rs6698151	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6699205	0.93[ASN][1000 genomes]
rs6699311	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7521042	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7543125	0.84[EUR][1000 genomes]
rs7545175	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7546365	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7552291	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7556227	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7556523	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872342	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9662527	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9988619	0.82[EUR][1000 genomes];0.89[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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs278836	USP33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78099000-78147200	Weak transcription	Gastric	stomach
2	chr1:78099200-78120800	Weak transcription	Small Intestine	intestine
3	chr1:78099200-78132400	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:78100800-78133200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:78105200-78117000	Weak transcription	HSMMtube	muscle
6	chr1:78105200-78131800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:78105400-78120600	Weak transcription	NH-A	brain
8	chr1:78105800-78122400	Weak transcription	HMEC	breast
9	chr1:78107600-78146000	Weak transcription	Fetal Kidney	kidney
10	chr1:78110400-78138000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:78111200-78117200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:78111200-78117800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:78111200-78120200	Weak transcription	Placenta	Placenta
14	chr1:78111200-78125600	Weak transcription	HSMM	muscle
15	chr1:78111200-78147200	Weak transcription	Esophagus	oesophagus
16	chr1:78111400-78117000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:78111400-78118400	Weak transcription	NHLF	lung
18	chr1:78111400-78118600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:78111400-78120600	Weak transcription	Lung	lung
20	chr1:78111400-78123200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:78111400-78125400	Weak transcription	Left Ventricle	heart
22	chr1:78111400-78127200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:78111400-78128000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:78111400-78130800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:78111400-78137400	Weak transcription	HUVEC	blood vessel
26	chr1:78111400-78137600	Weak transcription	Hela-S3	cervix
27	chr1:78112000-78118400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:78112200-78139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:78112400-78118000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:78112800-78118800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:78113400-78117000	ZNF genes & repeats	Fetal Lung	lung
32	chr1:78113600-78117200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr1:78113600-78117400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr1:78114400-78117600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr1:78114800-78135000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:78114800-78135800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:78115600-78117600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr1:78115600-78119000	ZNF genes & repeats	Dnd41	blood
39	chr1:78115800-78117400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr1:78116000-78117400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:78116200-78122000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:78116600-78117000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr1:78116600-78117000	ZNF genes & repeats	Primary T cells from cord blood	blood
44	chr1:78116600-78117000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:78116600-78117000	ZNF genes & repeats	Liver	Liver
46	chr1:78116600-78117000	ZNF genes & repeats	Brain Angular Gyrus	brain
47	chr1:78116600-78117000	ZNF genes & repeats	Brain Hippocampus Middle	brain
48	chr1:78116600-78117000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
49	chr1:78116600-78117000	ZNF genes & repeats	Fetal Intestine Large	intestine
50	chr1:78116600-78117000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet

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