Variant report

Variant	rs1476816
Chromosome Location	chr7:140714248-140714249
allele	A/C
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	TAL1	chr7:140713970-140714985	K562	blood:	n/a	n/a
4	MXI1	chr7:140713142-140715057	GM12878	blood:	n/a	chr7:140714240-140714249
5	MAFK	chr7:140713210-140715353	K562	blood:	n/a	chr7:140713536-140713547 chr7:140713536-140713551 chr7:140713536-140713547
6	BCL3	chr7:140714246-140715110	A549	lung:	n/a	chr7:140714918-140714927
7	MAFK	chr7:140713401-140714976	IMR90	lung:	n/a	chr7:140713536-140713547 chr7:140713536-140713551 chr7:140713536-140713547
8	YY1	chr7:140713970-140715196	SK-N-SH	brain:	n/a	chr7:140714919-140714928
9	POLR2A	chr7:140714057-140715250	MCF-7	breast:	n/a	n/a
10	GABPA	chr7:140713907-140715316	A549	lung:	n/a	chr7:140714897-140714908 chr7:140714897-140714911 chr7:140714899-140714908 chr7:140714894-140714908
11	TAF1	chr7:140714193-140715128	K562	blood:	n/a	n/a
12	YY1	chr7:140713766-140715218	SK-N-SH_RA	brain:	n/a	chr7:140714919-140714928
13	POLR2A	chr7:140714130-140715150	Hela-S3	cervix:	n/a	n/a
14	YY1	chr7:140714178-140715253	H1-hESC	embryonic stem cell:	n/a	chr7:140714919-140714928
15	MXI1	chr7:140712802-140715958	SK-N-SH	brain:	n/a	chr7:140714240-140714249
16	POLR2A	chr7:140714173-140715147	HCT-116	colon:	n/a	n/a
17	RAD21	chr7:140714127-140715104	IMR90	lung:	n/a	chr7:140714872-140714885
18	POLR2A	chr7:140713932-140715186	K562	blood:	n/a	n/a
19	BCLAF1	chr7:140714111-140715103	GM12878	blood:	n/a	chr7:140714918-140714927
20	CTCF	chr7:140713723-140715658	SK-N-SH	brain:	n/a	chr7:140715489-140715496
21	POLR2A	chr7:140714120-140715192	GM19193	blood:	n/a	n/a
22	TAF1	chr7:140714122-140715061	K562	blood:	n/a	n/a
23	UBTF	chr7:140713948-140714987	K562	blood:	n/a	n/a
24	STAT5A	chr7:140714208-140715069	GM12878	blood:	n/a	n/a
25	RELA	chr7:140713839-140715282	GM12891	blood:	n/a	n/a
26	MAX	chr7:140713850-140715269	K562	blood:	n/a	n/a
27	RCOR1	chr7:140714215-140715343	K562	blood:	n/a	n/a
28	CBX3	chr7:140713886-140715463	K562	blood:	n/a	n/a
29	JUND	chr7:140714084-140715289	K562	blood:	n/a	chr7:140714140-140714154
30	POLR2A	chr7:140714177-140715124	GM12891	blood:	n/a	n/a
31	PML	chr7:140713930-140715364	GM12878	blood:	n/a	n/a
32	SIN3A	chr7:140714136-140715027	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:140713971-140715159	GM12878	blood:	n/a	n/a
34	ELF1	chr7:140714192-140715169	MCF-7	breast:	n/a	chr7:140714919-140714928
35	YY1	chr7:140714231-140715120	GM12892	blood:	n/a	chr7:140714919-140714928
36	POLR2A	chr7:140712642-140715144	K562	blood:	n/a	n/a
37	POLR2A	chr7:140713611-140715102	GM12878	blood:	n/a	n/a
38	RUNX3	chr7:140714218-140715174	GM12878	blood:	n/a	n/a
39	TBP	chr7:140714190-140715175	GM12878	blood:	n/a	n/a
40	SP1	chr7:140714156-140715280	A549	lung:	n/a	chr7:140715112-140715121
41	TAF1	chr7:140714201-140715149	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:140714186-140715150	U87	brain:	n/a	n/a
43	EP300	chr7:140713989-140714990	K562	blood:	n/a	n/a
44	MAX	chr7:140714161-140715219	SK-N-SH	brain:	n/a	n/a
45	SIN3AK20	chr7:140714225-140715070	SK-N-SH	brain:	n/a	n/a
46	NFATC1	chr7:140714213-140714893	GM12878	blood:	n/a	n/a
47	EP300	chr7:140714121-140715022	GM12878	blood:	n/a	n/a
48	E2F6	chr7:140713891-140715185	K562	blood:	n/a	chr7:140714898-140714907
49	USF1	chr7:140714170-140715192	SK-N-SH	brain:	n/a	chr7:140714918-140714934
50	MTA3	chr7:140713853-140715348	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:140713242..140716757-chr7:140770540..140776348,9	MCF-7	breast:
2	chr7:140395386..140400852-chr7:140710628..140716984,11	MCF-7	breast:
3	chr7:140376401..140379049-chr7:140712794..140714370,2	K562	blood:
4	chr7:140376267..140379016-chr7:140712794..140714827,3	K562	blood:
5	chr7:140701133..140705248-chr7:140712773..140716152,4	K562	blood:
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
ENSG00000273081	Chromatin interaction
ENSG00000157764	Chromatin interaction
ENSG00000006530	Chromatin interaction
ENSG00000240889	Chromatin interaction
ENSG00000133597	Chromatin interaction
ENSG00000090266	Chromatin interaction
ENSG00000261115	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

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	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap];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	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1533933	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]
rs3805116	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs3852286	0.84[EUR][1000 genomes]
rs3864527	0.84[EUR][1000 genomes]
rs38715	1.00[CHB][hapmap]
rs38720	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs38722	1.00[CHB][hapmap]
rs38723	1.00[CHB][hapmap]
rs38726	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs38730	0.89[ASN][1000 genomes]
rs38731	0.89[ASN][1000 genomes]
rs38734	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs38736	0.91[ASN][1000 genomes]
rs38739	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs38740	1.00[CHB][hapmap];0.85[JPT][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs488795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs490810	0.87[ASN][1000 genomes]
rs512177	0.91[ASN][1000 genomes]
rs512509	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs528957	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs533441	0.91[ASN][1000 genomes]
rs544081	0.89[ASN][1000 genomes]
rs545121	0.91[ASN][1000 genomes]
rs557962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs569584	0.89[ASN][1000 genomes]
rs579518	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6464217	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6464260	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];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	1.00[CHB][hapmap];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	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];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	1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs801155	0.89[ASN][1000 genomes]
rs801159	0.91[ASN][1000 genomes]
rs9274	1.00[CHB][hapmap]

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
rs1476816	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	chr7:140713200-140714400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:140713200-140714400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr7:140713200-140715200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:140713200-140715400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:140713400-140715400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:140713600-140714400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr7:140713600-140714400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:140713600-140714400	Flanking Active TSS	HUVEC	blood vessel
10	chr7:140713600-140715200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:140713600-140715400	Active TSS	Colonic Mucosa	Colon
12	chr7:140713600-140715400	Active TSS	Fetal Muscle Trunk	muscle
13	chr7:140713600-140715400	Active TSS	Fetal Muscle Leg	muscle
14	chr7:140713600-140715400	Active TSS	Right Atrium	heart
15	chr7:140713600-140715400	Active TSS	Right Ventricle	heart
16	chr7:140713600-140715600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr7:140713600-140715600	Active TSS	GM12878-XiMat	blood
18	chr7:140713800-140714400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr7:140713800-140714400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:140713800-140714400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:140713800-140714400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr7:140713800-140714400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr7:140713800-140714400	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr7:140713800-140714400	Enhancers	Spleen	Spleen
25	chr7:140713800-140714600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:140713800-140714600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr7:140713800-140715000	Active TSS	HMEC	breast
28	chr7:140713800-140715200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:140713800-140715200	Active TSS	Esophagus	oesophagus
30	chr7:140713800-140715200	Active TSS	Placenta Amnion	Placenta Amnion
31	chr7:140713800-140715400	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr7:140713800-140715400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:140713800-140715400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr7:140713800-140715400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:140713800-140715400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:140713800-140715400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:140713800-140715400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:140713800-140715400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:140713800-140715400	Active TSS	Aorta	Aorta
40	chr7:140713800-140715400	Active TSS	Fetal Intestine Large	intestine
41	chr7:140713800-140715400	Active TSS	Gastric	stomach
42	chr7:140713800-140715400	Active TSS	Ovary	ovary
43	chr7:140713800-140715400	Active TSS	Stomach Smooth Muscle	stomach
44	chr7:140713800-140715400	Active TSS	HSMM	muscle
45	chr7:140713800-140715400	Active TSS	HSMMtube	muscle
46	chr7:140713800-140715600	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr7:140713800-140715600	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr7:140713800-140715600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:140713800-140715600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:140713800-140715600	Active TSS	Pancreatic Islets	Pancreatic Islet

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