Variant report

Variant	rs73774354
Chromosome Location	chr5:95992938-95992939
allele	C/T
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	MAX	chr5:95992822-95993208	Hela-S3	cervix:	n/a	n/a
2	FOSL2	chr5:95992692-95993238	SK-N-SH	brain:	n/a	chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
3	TCF12	chr5:95992673-95993309	ECC-1	luminal epithelium:	n/a	n/a
4	JUND	chr5:95992740-95993226	MCF-7	breast:	n/a	chr5:95992970-95992981 chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
5	JUND	chr5:95992768-95993351	MCF-7	breast:	n/a	chr5:95992970-95992981 chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
6	MAX	chr5:95992787-95993207	SK-N-SH	brain:	n/a	n/a
7	FOSL1	chr5:95992531-95993344	HCT-116	colon:	n/a	chr5:95992970-95992981 chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
8	SP1	chr5:95992635-95993386	HCT-116	colon:	n/a	n/a
9	FOSL2	chr5:95992582-95993289	MCF-7	breast:	n/a	chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
10	EP300	chr5:95992585-95993440	SK-N-SH	brain:	n/a	chr5:95992746-95992760 chr5:95993187-95993201
11	GATA3	chr5:95992904-95993154	MCF-7	breast:	n/a	chr5:95993112-95993122
12	CEBPB	chr5:95992804-95993190	Hela-S3	cervix:	n/a	chr5:95992915-95992927
13	FOS	chr5:95992766-95993216	HUVEC	blood vessel:	n/a	chr5:95992970-95992981 chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
14	JUND	chr5:95992771-95993199	K562	blood:	n/a	chr5:95992970-95992981 chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
15	JUN	chr5:95992801-95993125	K562	blood:	n/a	chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
16	TCF12	chr5:95992769-95993222	ECC-1	luminal epithelium:	n/a	n/a
17	MXI1	chr5:95992864-95993198	Hela-S3	cervix:	n/a	n/a
18	GATA3	chr5:95992661-95993428	SK-N-SH	brain:	n/a	chr5:95993189-95993199 chr5:95993112-95993122
19	CEBPB	chr5:95992687-95993226	A549	lung:	n/a	chr5:95992915-95992927
20	PBX3	chr5:95992686-95993261	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr5:95992568-95993416	SK-N-SH	brain:	n/a	chr5:95993189-95993199 chr5:95993112-95993122
22	TEAD4	chr5:95992653-95993315	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr5:95992753-95993201	SK-N-SH	brain:	n/a	n/a
24	JUND	chr5:95992608-95993355	HCT-116	colon:	n/a	chr5:95992970-95992981 chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
25	FOS	chr5:95992801-95993140	Hela-S3	cervix:	n/a	chr5:95992970-95992981 chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
26	MYC	chr5:95992655-95993279	MCF10A-Er-Src	breast:	n/a	n/a
27	RAD21	chr5:95992803-95993173	Hela-S3	cervix:	n/a	n/a
28	JUN	chr5:95992829-95993084	HepG2	liver:	n/a	chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
29	MTA3	chr5:95992823-95993175	GM12878	blood:	n/a	n/a
30	JUND	chr5:95992668-95993218	Hela-S3	cervix:	n/a	chr5:95992970-95992981 chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
31	SIN3AK20	chr5:95992685-95993276	MCF-7	breast:	n/a	n/a
32	EP300	chr5:95992730-95993253	ECC-1	luminal epithelium:	n/a	chr5:95992746-95992760 chr5:95993187-95993201
33	ATF2	chr5:95992704-95993267	GM12878	blood:	n/a	n/a
34	STAT3	chr5:95992809-95993213	MCF10A-Er-Src	breast:	n/a	chr5:95993110-95993118 chr5:95992997-95993008
35	RFX5	chr5:95992712-95993177	Hela-S3	cervix:	n/a	chr5:95992975-95992990
36	FOS	chr5:95992759-95993213	MCF10A-Er-Src	breast:	n/a	chr5:95992970-95992981 chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
37	ZMIZ1	chr5:95992875-95993145	K562	blood:	n/a	n/a
38	ELF1	chr5:95992659-95993299	MCF-7	breast:	n/a	n/a
39	YY1	chr5:95992806-95993183	ECC-1	luminal epithelium:	n/a	n/a
40	IKZF1	chr5:95992819-95993159	GM12878	blood:	n/a	n/a
41	JUN	chr5:95992792-95993161	K562	blood:	n/a	chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
42	JUN	chr5:95992791-95993166	K562	blood:	n/a	chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
43	JUN	chr5:95992252-95993299	K562	blood:	n/a	chr5:95992972-95992981 chr5:95992971-95992980 chr5:95992970-95992982 chr5:95992971-95992981
44	RAD21	chr5:95992814-95993154	SK-N-SH_RA	brain:	n/a	n/a
45	CEBPB	chr5:95992829-95993165	IMR90	lung:	n/a	chr5:95992915-95992927
46	HDAC2	chr5:95992716-95993186	MCF-7	breast:	n/a	chr5:95992739-95992753 chr5:95993109-95993123
47	ZKSCAN1	chr5:95992823-95993120	Hela-S3	cervix:	n/a	n/a
48	USF2	chr5:95992935-95993070	Hela-S3	cervix:	n/a	n/a
49	GTF2F1	chr5:95992855-95993158	Hela-S3	cervix:	n/a	n/a
50	SP1	chr5:95992633-95993259	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:95992791..95994704-chr5:96271567..96273123,2	MCF-7	breast:
2	chr5:95977586..95978196-chr5:95992536..95993295,2	MCF-7	breast:
3	chr5:95991448..95995486-chr5:95995938..96001045,12	MCF-7	breast:
4	chr5:95977234..95979503-chr5:95992093..95994116,2	MCF-7	breast:
5	chr5:95973246..95975490-chr5:95991311..95993586,2	K562	blood:
6	chr5:95968426..95970415-chr5:95992191..95994146,2	MCF-7	breast:

Variant related genes	Relation type
CAST	TF binding region
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs28613847	1.00[AMR][1000 genomes]
rs55959916	0.86[AFR][1000 genomes]
rs56255433	1.00[AMR][1000 genomes]
rs56299553	1.00[AMR][1000 genomes]
rs56843965	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57861617	0.86[AFR][1000 genomes]
rs58106243	1.00[AMR][1000 genomes]
rs58728530	0.86[AFR][1000 genomes]
rs59380160	0.93[AFR][1000 genomes]
rs59848421	1.00[AMR][1000 genomes]
rs61327006	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61669951	1.00[AMR][1000 genomes]
rs73774352	1.00[AMR][1000 genomes]
rs73774353	0.86[AFR][1000 genomes]
rs73774357	0.86[AFR][1000 genomes]
rs73774358	0.86[AFR][1000 genomes]
rs73774359	0.86[AFR][1000 genomes]
rs73774360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774367	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774369	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774375	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774380	0.87[AFR][1000 genomes]
rs73774385	1.00[AMR][1000 genomes]
rs73774386	1.00[AMR][1000 genomes]
rs73774388	1.00[AMR][1000 genomes]
rs73774389	1.00[AMR][1000 genomes]
rs73774390	1.00[AMR][1000 genomes]
rs73774391	1.00[AMR][1000 genomes]
rs73774392	1.00[AMR][1000 genomes]
rs73774393	1.00[AMR][1000 genomes]
rs73774397	1.00[AMR][1000 genomes]
rs73774399	1.00[AMR][1000 genomes]
rs73774400	1.00[AMR][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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95983200-95994200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:95988400-95994600	Enhancers	NHEK	skin
3	chr5:95989000-95996200	Weak transcription	Fetal Lung	lung
4	chr5:95989200-95996400	Weak transcription	Placenta	Placenta
5	chr5:95989600-95993000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:95990000-95996400	Enhancers	Hela-S3	cervix
7	chr5:95990200-95993400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:95990200-95994400	Enhancers	HSMM	muscle
9	chr5:95990400-95994400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:95990400-95994600	Enhancers	NHDF-Ad	bronchial
11	chr5:95990600-95995000	Enhancers	HMEC	breast
12	chr5:95990600-95996600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:95990800-95993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:95990800-95993600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:95990800-95993600	Enhancers	HUVEC	blood vessel
16	chr5:95990800-95994000	Enhancers	NHLF	lung
17	chr5:95990800-95994200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:95990800-95994200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:95990800-95994200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:95990800-95994200	Enhancers	NH-A	brain
21	chr5:95990800-95994200	Enhancers	Osteobl	bone
22	chr5:95991000-95994600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:95991200-95994200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:95991400-95993200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:95991600-95996600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr5:95991800-95993000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr5:95991800-95993200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:95992000-95993200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr5:95992000-95993200	Enhancers	Fetal Intestine Large	intestine
30	chr5:95992000-95993200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr5:95992000-95993200	Flanking Active TSS	A549	lung
32	chr5:95992000-95993400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr5:95992000-95993400	Enhancers	Fetal Intestine Small	intestine
34	chr5:95992000-95993600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:95992000-95994200	Enhancers	HSMMtube	muscle
36	chr5:95992200-95993200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr5:95992200-95993200	Enhancers	GM12878-XiMat	blood
38	chr5:95992200-95993400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr5:95992200-95993600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:95992200-95996600	Weak transcription	Liver	Liver
41	chr5:95992200-95997600	Weak transcription	Gastric	stomach
42	chr5:95992400-95993000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:95992400-95993200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:95992400-95995200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:95992400-95996600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:95992400-95996600	Weak transcription	Small Intestine	intestine
47	chr5:95992400-95996800	Weak transcription	Pancreas	Pancrea
48	chr5:95992400-95997200	Weak transcription	Esophagus	oesophagus
49	chr5:95992600-95993200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:95992600-95993600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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