Variant report

Variant	rs1533933
Chromosome Location	chr7:140715025-140715026
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:140714116-140715122	HCT-116	colon:	n/a	n/a
2	CREB1	chr7:140714071-140715169	GM12878	blood:	n/a	n/a
3	RAD21	chr7:140714541-140715313	A549	lung:	n/a	chr7:140714872-140714885
4	ZNF263	chr7:140714275-140715280	HEK293-T-REx	kidney:	n/a	n/a
5	ZNF143	chr7:140714328-140715168	GM12878	blood:	n/a	n/a
6	ZBTB7A	chr7:140714443-140715049	HepG2	liver:	n/a	chr7:140714670-140714677
7	CTCF	chr7:140714675-140715053	GM19240	blood:	n/a	n/a
8	MXI1	chr7:140713142-140715057	GM12878	blood:	n/a	chr7:140714240-140714249
9	E2F6	chr7:140714408-140715086	K562	blood:	n/a	chr7:140714898-140714907
10	TAF1	chr7:140714255-140715032	GM12891	blood:	n/a	n/a
11	MAFK	chr7:140713210-140715353	K562	blood:	n/a	chr7:140713536-140713547 chr7:140713536-140713551 chr7:140713536-140713547
12	CTCF	chr7:140714698-140715141	NHEK	skin:	n/a	n/a
13	SETDB1	chr7:140714278-140715209	K562	blood:	n/a	chr7:140714898-140714907
14	BCL3	chr7:140714246-140715110	A549	lung:	n/a	chr7:140714918-140714927
15	POLR2A	chr7:140714278-140715156	GM12878	blood:	n/a	n/a
16	CTCF	chr7:140714721-140715039	LNCaP	prostate:	n/a	n/a
17	YY1	chr7:140713970-140715196	SK-N-SH	brain:	n/a	chr7:140714919-140714928
18	MXI1	chr7:140714371-140715086	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr7:140714057-140715250	MCF-7	breast:	n/a	n/a
20	GABPA	chr7:140713907-140715316	A549	lung:	n/a	chr7:140714897-140714908 chr7:140714897-140714911 chr7:140714899-140714908 chr7:140714894-140714908
21	TAF1	chr7:140714193-140715128	K562	blood:	n/a	n/a
22	YY1	chr7:140713766-140715218	SK-N-SH_RA	brain:	n/a	chr7:140714919-140714928
23	TEAD4	chr7:140714592-140715102	H1-hESC	embryonic stem cell:	n/a	n/a
24	FOXP2	chr7:140714581-140715091	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr7:140714130-140715150	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr7:140714693-140715075	GM12878	blood:	n/a	n/a
27	YY1	chr7:140714178-140715253	H1-hESC	embryonic stem cell:	n/a	chr7:140714919-140714928
28	SETDB1	chr7:140714350-140715106	U2OS	brain:	n/a	chr7:140714898-140714907
29	NRF1	chr7:140714750-140715044	HepG2	liver:	n/a	chr7:140714897-140714908 chr7:140714897-140714911 chr7:140714897-140714908 chr7:140714899-140714908 chr7:140714923-140714934 chr7:140714894-140714908
30	MXI1	chr7:140712802-140715958	SK-N-SH	brain:	n/a	chr7:140714240-140714249
31	CTCF	chr7:140714667-140715126	Fibrobl	skin:	n/a	n/a
32	POLR2A	chr7:140714173-140715147	HCT-116	colon:	n/a	n/a
33	CTCF	chr7:140714658-140715047	A549	lung:	n/a	n/a
34	RAD21	chr7:140714678-140715154	HepG2	liver:	n/a	chr7:140714872-140714885
35	RAD21	chr7:140714127-140715104	IMR90	lung:	n/a	chr7:140714872-140714885
36	POLR2A	chr7:140713932-140715186	K562	blood:	n/a	n/a
37	BCLAF1	chr7:140714111-140715103	GM12878	blood:	n/a	chr7:140714918-140714927
38	ETS1	chr7:140714469-140715038	A549	lung:	n/a	chr7:140714919-140714930 chr7:140714812-140714819
39	FOXP2	chr7:140714567-140715047	PFSK-1	brain:	n/a	n/a
40	CTCF	chr7:140713723-140715658	SK-N-SH	brain:	n/a	chr7:140715489-140715496
41	POLR2A	chr7:140714120-140715192	GM19193	blood:	n/a	n/a
42	TAF1	chr7:140714122-140715061	K562	blood:	n/a	n/a
43	CTCF	chr7:140714647-140715052	SK-N-SH_RA	brain:	n/a	n/a
44	ELF1	chr7:140714550-140715095	K562	blood:	n/a	chr7:140714919-140714928
45	NFIC	chr7:140714574-140715066	GM12878	blood:	n/a	n/a
46	STAT5A	chr7:140714208-140715069	GM12878	blood:	n/a	n/a
47	RELA	chr7:140713839-140715282	GM12891	blood:	n/a	n/a
48	MAX	chr7:140713850-140715269	K562	blood:	n/a	n/a
49	ZBTB7A	chr7:140714380-140715258	K562	blood:	n/a	chr7:140714670-140714677
50	RCOR1	chr7:140714215-140715343	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67980567..67981241-chr7:140714418..140715202,2	HCT-116	colon:
2	chr7:140713242..140716757-chr7:140770540..140776348,9	MCF-7	breast:
3	chr7:140395386..140400852-chr7:140710628..140716984,11	MCF-7	breast:
4	chr7:140701133..140705248-chr7:140712773..140716152,4	K562	blood:
5	chr11:10830220..10831098-chr7:140714309..140715213,2	Hela-S3	cervix:
6	chr7:140621424..140625828-chr7:140713150..140716057,6	K562	blood:
7	chr7:140712784..140717043-chr7:140770770..140775163,8	MCF-7	breast:
8	chr7:140394845..140398499-chr7:140712009..140715919,6	MCF-7	breast:
9	chr7:140712651..140715864-chr7:141348079..141351599,5	MCF-7	breast:
10	chr7:140621424..140625988-chr7:140712136..140716057,7	K562	blood:
11	chr7:140394556..140398514-chr7:140712637..140716961,7	K562	blood:
12	chr7:140394719..140399884-chr7:140712014..140716961,9	K562	blood:

Variant related genes	Relation type
MRPS33	TF binding region
ENSG00000240889	Chromatin interaction
ENSG00000273081	Chromatin interaction
ENSG00000246308	Chromatin interaction
ENSG00000110066	Chromatin interaction
ENSG00000006530	Chromatin interaction
ENSG00000090266	Chromatin interaction
ENSG00000157764	Chromatin interaction
ENSG00000261115	Chromatin interaction
ENSG00000110321	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10215245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10255167	0.84[EUR][1000 genomes]
rs10268118	0.84[EUR][1000 genomes]
rs1044927	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1089264	0.95[ASN][1000 genomes]
rs10952364	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12538296	0.86[EUR][1000 genomes]
rs12703284	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13234490	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860720	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961288	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2079978	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688430	0.95[ASN][1000 genomes]
rs3852286	0.84[EUR][1000 genomes]
rs3864527	0.84[EUR][1000 genomes]
rs38726	0.82[ASN][1000 genomes]
rs38730	0.89[ASN][1000 genomes]
rs38731	0.89[ASN][1000 genomes]
rs38734	0.91[ASN][1000 genomes]
rs38736	0.91[ASN][1000 genomes]
rs38739	0.93[ASN][1000 genomes]
rs38740	0.93[ASN][1000 genomes]
rs4726196	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4726225	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs488795	0.89[ASN][1000 genomes]
rs490810	0.87[ASN][1000 genomes]
rs512177	0.91[ASN][1000 genomes]
rs512509	0.89[ASN][1000 genomes]
rs528957	0.89[ASN][1000 genomes]
rs533441	0.91[ASN][1000 genomes]
rs544081	0.89[ASN][1000 genomes]
rs545121	0.91[ASN][1000 genomes]
rs557962	0.91[ASN][1000 genomes]
rs569584	0.89[ASN][1000 genomes]
rs579518	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6464217	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6464260	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464284	0.87[ASN][1000 genomes]
rs6662	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6967214	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6971577	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7792447	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801518	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs801117	0.95[ASN][1000 genomes]
rs801121	0.95[ASN][1000 genomes]
rs801127	0.95[ASN][1000 genomes]
rs801155	0.89[ASN][1000 genomes]
rs801159	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1533933	MRPS33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140713000-140715400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:140713200-140715200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr7:140713200-140715400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:140713400-140715400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:140713600-140715200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:140713600-140715400	Active TSS	Colonic Mucosa	Colon
7	chr7:140713600-140715400	Active TSS	Fetal Muscle Trunk	muscle
8	chr7:140713600-140715400	Active TSS	Fetal Muscle Leg	muscle
9	chr7:140713600-140715400	Active TSS	Right Atrium	heart
10	chr7:140713600-140715400	Active TSS	Right Ventricle	heart
11	chr7:140713600-140715600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr7:140713600-140715600	Active TSS	GM12878-XiMat	blood
13	chr7:140713800-140715200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:140713800-140715200	Active TSS	Esophagus	oesophagus
15	chr7:140713800-140715200	Active TSS	Placenta Amnion	Placenta Amnion
16	chr7:140713800-140715400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:140713800-140715400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:140713800-140715400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr7:140713800-140715400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:140713800-140715400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:140713800-140715400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:140713800-140715400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:140713800-140715400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:140713800-140715400	Active TSS	Aorta	Aorta
25	chr7:140713800-140715400	Active TSS	Fetal Intestine Large	intestine
26	chr7:140713800-140715400	Active TSS	Gastric	stomach
27	chr7:140713800-140715400	Active TSS	Ovary	ovary
28	chr7:140713800-140715400	Active TSS	Stomach Smooth Muscle	stomach
29	chr7:140713800-140715400	Active TSS	HSMM	muscle
30	chr7:140713800-140715400	Active TSS	HSMMtube	muscle
31	chr7:140713800-140715600	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr7:140713800-140715600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr7:140713800-140715600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:140713800-140715600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:140713800-140715600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr7:140713800-140715600	Active TSS	A549	lung
37	chr7:140713800-140715600	Active TSS	NHDF-Ad	bronchial
38	chr7:140714000-140715200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr7:140714000-140715200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:140714000-140715200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:140714000-140715200	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr7:140714000-140715200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr7:140714000-140715200	Active TSS	Brain Anterior Caudate	brain
44	chr7:140714000-140715200	Active TSS	Brain Germinal Matrix	brain
45	chr7:140714000-140715200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:140714000-140715200	Active TSS	Colon Smooth Muscle	Colon
47	chr7:140714000-140715200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr7:140714000-140715200	Active TSS	Fetal Intestine Small	intestine
49	chr7:140714000-140715200	Active TSS	Lung	lung
50	chr7:140714000-140715200	Active TSS	Sigmoid Colon	Sigmoid Colon

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