Variant report

Variant	rs278844
Chromosome Location	chr1:78152668-78152669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr1:78152620-78152728	H1-hESC	embryonic stem cell:	n/a	n/a
2	RXRA	chr1:78152519-78152800	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr1:78152656-78152849	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF143	chr1:78152584-78153589	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:78152607-78152808	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF263	chr1:78152199-78152842	HEK293-T-REx	kidney:	n/a	chr1:78152216-78152225
7	EGR1	chr1:78152474-78152824	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr1:78152378-78153019	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:78152495-78152829	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF12	chr1:78152546-78152765	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr1:78152485-78152826	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3A	chr1:78152590-78153641	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:78152483-78153684	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:78150914..78152698-chr1:78165205..78167103,2	K562	blood:
2	chr1:78147916..78149547-chr1:78151862..78154484,2	MCF-7	breast:
3	chr1:78150914..78153442-chr1:78165603..78168568,2	K562	blood:

No data

Variant related genes	Relation type
ZZZ3	TF binding region
ENSG00000077254	Chromatin interaction
ENSG00000036549	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1038983	0.81[ASN][1000 genomes]
rs10873953	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10873954	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11162368	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11162370	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11162374	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11162378	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11162380	0.82[ASN][1000 genomes]
rs11162384	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11578805	0.85[ASN][1000 genomes]
rs1166589	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12026939	0.82[ASN][1000 genomes]
rs12090729	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12132838	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12135104	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12142441	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12717768	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1389789	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1389790	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1539739	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs166770	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2031342	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs203229	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2088058	0.80[AFR][1000 genomes]
rs2296227	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs278832	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs278833	0.87[ASN][1000 genomes]
rs278834	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs278836	0.88[ASN][1000 genomes]
rs278837	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs278840	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs278841	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs278842	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs278843	0.92[ASN][1000 genomes]
rs278848	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs278850	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs278851	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs278855	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs278856	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs278857	0.91[ASN][1000 genomes]
rs278858	0.91[ASN][1000 genomes]
rs278859	0.91[ASN][1000 genomes]
rs278860	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs278863	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs278864	0.91[ASN][1000 genomes]
rs366467	0.86[ASN][1000 genomes]
rs370335	0.88[ASN][1000 genomes]
rs3767037	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3767038	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4488068	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4949817	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4949818	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs574973	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6603956	0.82[ASN][1000 genomes]
rs6603958	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6603960	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6657290	0.83[ASN][1000 genomes]
rs6661656	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6674638	0.85[ASN][1000 genomes]
rs6687501	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6699205	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6699311	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs717333	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7519946	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7535781	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7536206	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7543037	0.88[EUR][1000 genomes]
rs7546365	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7556523	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8179272	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs872342	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9662527	0.87[ASN][1000 genomes]
rs9988619	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
7	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv946004	chr1:78152199-78160377	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3348629	chr1:78152214-78154612	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs278844	USP33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78149600-78175000	Weak transcription	Gastric	stomach
2	chr1:78149600-78177800	Weak transcription	Spleen	Spleen
3	chr1:78149800-78153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:78149800-78153000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:78149800-78153000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:78149800-78153200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:78149800-78153200	Weak transcription	Placenta	Placenta
8	chr1:78149800-78153200	Weak transcription	Right Atrium	heart
9	chr1:78149800-78153400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:78149800-78157400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:78149800-78157600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:78149800-78158800	Weak transcription	Left Ventricle	heart
13	chr1:78149800-78159800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:78149800-78165600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:78149800-78165600	Weak transcription	Esophagus	oesophagus
16	chr1:78149800-78165600	Weak transcription	Lung	lung
17	chr1:78149800-78171800	Weak transcription	Fetal Brain Male	brain
18	chr1:78149800-78173000	Weak transcription	Colonic Mucosa	Colon
19	chr1:78149800-78173800	Weak transcription	Aorta	Aorta
20	chr1:78149800-78178000	Weak transcription	Small Intestine	intestine
21	chr1:78150000-78153400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:78150000-78153400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:78150000-78153400	Weak transcription	Fetal Kidney	kidney
24	chr1:78150000-78153400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:78150000-78158600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:78150000-78158800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:78150000-78158800	Weak transcription	Fetal Brain Female	brain
28	chr1:78150000-78160800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:78150000-78160800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:78150000-78161600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:78150000-78162000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:78150000-78163000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:78150000-78165200	Weak transcription	Brain Angular Gyrus	brain
34	chr1:78150000-78166000	Weak transcription	HSMMtube	muscle
35	chr1:78150000-78172800	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:78150000-78173000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:78150000-78173000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:78150000-78173600	Weak transcription	Psoas Muscle	Psoas
39	chr1:78150000-78174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:78150000-78175600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:78150200-78153000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:78150200-78153000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:78150200-78153000	Weak transcription	Fetal Intestine Large	intestine
44	chr1:78150200-78153000	Weak transcription	Fetal Intestine Small	intestine
45	chr1:78150200-78153200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:78150200-78153200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:78150200-78153200	Weak transcription	Fetal Stomach	stomach
48	chr1:78150200-78153200	Weak transcription	Thymus	Thymus
49	chr1:78150200-78153400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:78150200-78153400	Weak transcription	Liver	Liver

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