Variant report

Variant	rs73452548
Chromosome Location	chr6:74231819-74231820
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	ZNF143	chr6:74230465-74232162	K562	blood:	n/a	chr6:74231121-74231139
2	RCOR1	chr6:74229861-74231975	K562	blood:	n/a	n/a
3	POLR2A	chr6:74227580-74231982	MCF10A-Er-Src	breast:	n/a	n/a
4	RELA	chr6:74229260-74232316	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:74228816-74232047	HepG2	liver:	n/a	n/a
6	BHLHE40	chr6:74229893-74232231	GM12878	blood:	n/a	chr6:74230508-74230524 chr6:74231107-74231123
7	MAZ	chr6:74229755-74231968	GM12878	blood:	n/a	chr6:74230793-74230803 chr6:74231000-74231010 chr6:74230504-74230513
8	POLR2A	chr6:74227654-74232081	GM12892	blood:	n/a	n/a
9	TBP	chr6:74230390-74232271	Hela-S3	cervix:	n/a	n/a
10	CHD1	chr6:74228853-74232500	IMR90	lung:	n/a	chr6:74230887-74230897 chr6:74229942-74229952
11	NR2F2	chr6:74229697-74231884	K562	blood:	n/a	n/a
12	SMC3	chr6:74229753-74231988	Hela-S3	cervix:	n/a	chr6:74230493-74230500
13	POLR2A	chr6:74227647-74232257	K562	blood:	n/a	n/a
14	CREB1	chr6:74229688-74231838	HepG2	liver:	n/a	chr6:74231556-74231569
15	EP300	chr6:74230594-74231832	GM12878	blood:	n/a	n/a
16	POLR2A	chr6:74227716-74232005	HepG2	liver:	n/a	n/a
17	HCFC1	chr6:74229302-74232137	Hela-S3	cervix:	n/a	n/a
18	RELA	chr6:74229314-74231856	GM12892	blood:	n/a	n/a
19	POLR2A	chr6:74221293-74231942	GM12892	blood:	n/a	n/a
20	MAX	chr6:74229786-74231970	NB4	blood:	n/a	chr6:74230793-74230803 chr6:74231000-74231010 chr6:74230504-74230513
21	POLR2A	chr6:74222445-74232301	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr6:74227632-74232033	MCF10A-Er-Src	breast:	n/a	n/a
23	JUND	chr6:74229718-74231840	H1-hESC	embryonic stem cell:	n/a	chr6:74230074-74230085 chr6:74230074-74230086 chr6:74230076-74230085 chr6:74230075-74230084 chr6:74230075-74230085
24	POLR2A	chr6:74228851-74232323	HCT-116	colon:	n/a	n/a
25	CHD1	chr6:74228954-74232231	GM12878	blood:	n/a	chr6:74230887-74230897 chr6:74229942-74229952
26	IKZF1	chr6:74230817-74232271	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:74216472-74232305	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:74228804-74232124	SK-N-MC	brain:	n/a	n/a
29	BRCA1	chr6:74229824-74231969	Hela-S3	cervix:	n/a	n/a
30	ATF2	chr6:74229593-74232394	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:74228412-74232007	IMR90	lung:	n/a	n/a
32	MAX	chr6:74229717-74231829	A549	lung:	n/a	chr6:74230793-74230803 chr6:74231000-74231010 chr6:74230504-74230513
33	CREB1	chr6:74229707-74232056	HepG2	liver:	n/a	chr6:74231556-74231569
34	POLR2A	chr6:74228831-74231929	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr6:74229791-74232032	H1-neurons	neurons:	n/a	n/a
36	NFIC	chr6:74229707-74231821	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr6:74227544-74232295	HepG2	liver:	n/a	n/a
38	POLR2A	chr6:74227454-74232347	HepG2	liver:	n/a	n/a
39	TBP	chr6:74230488-74232325	GM12878	blood:	n/a	n/a
40	MYC	chr6:74229802-74232179	A549	lung:	n/a	chr6:74230793-74230803 chr6:74231000-74231010 chr6:74230504-74230513
41	MYC	chr6:74229700-74232131	K562	blood:	n/a	chr6:74230793-74230803 chr6:74231000-74231010 chr6:74230504-74230513
42	IRF1	chr6:74229813-74232261	K562	blood:	n/a	chr6:74231001-74231015 chr6:74231594-74231607 chr6:74231594-74231608 chr6:74230293-74230307 chr6:74231594-74231607 chr6:74230808-74230822
43	RELA	chr6:74229763-74232373	GM18505	blood:	n/a	n/a
44	POLR2A	chr6:74222053-74232221	GM12878	blood:	n/a	n/a
45	ARID3A	chr6:74230504-74232034	HepG2	liver:	n/a	n/a
46	POLR2A	chr6:74221470-74232396	GM12891	blood:	n/a	n/a
47	MAFF	chr6:74231551-74232185	K562	blood:	n/a	n/a
48	POLR2A	chr6:74227636-74234221	GM18505	blood:	n/a	n/a
49	RELA	chr6:74229725-74232310	GM15510	blood:	n/a	n/a
50	CREB1	chr6:74229130-74232130	K562	blood:	n/a	chr6:74231556-74231569

No.	Distal block	Cell Line	Cell type
1	chr6:74230158..74233335-chr6:74327185..74331083,5	K562	blood:
2	chr6:74228897..74233348-chr6:76310739..76313863,5	K562	blood:
3	chr6:74221323..74236726-chr6:74306065..74338770,101	K562	blood:
4	chr6:74228067..74234767-chr6:74357105..74365312,16	MCF-7	breast:
5	chr6:74231501..74234013-chr6:75953624..75956455,2	MCF-7	breast:
6	chr6:74219718..74234750-chr6:74354945..74369231,56	K562	blood:
7	chr6:74220976..74234980-chr6:74352572..74366941,62	K562	blood:
8	chr5:175814751..175816394-chr6:74229187..74232142,2	MCF-7	breast:
9	chr6:74228702..74232744-chr6:74360665..74366385,13	MCF-7	breast:
10	chr11:47585806..47587545-chr6:74230961..74233222,2	K562	blood:
11	chr6:74161775..74163563-chr6:74231007..74233412,2	MCF-7	breast:
12	chr6:27112481..27114921-chr6:74229958..74232604,2	K562	blood:
13	chr6:73972686..73974360-chr6:74230027..74232988,2	MCF-7	breast:
14	chr6:74229165..74233433-chr6:74353361..74356645,5	MCF-7	breast:
15	chr6:74170147..74173171-chr6:74228405..74233047,5	K562	blood:

Variant related genes	Relation type
EEF1A1	TF binding region
ENSG00000229862	TF binding region
ENSG00000197903	Chromatin interaction
ENSG00000218459	Chromatin interaction
ENSG00000243501	Chromatin interaction
ENSG00000146066	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000164430	Chromatin interaction
ENSG00000135297	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000229852	Chromatin interaction
ENSG00000048162	Chromatin interaction
ENSG00000112701	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000263378	Chromatin interaction
ENSG00000135314	Chromatin interaction
ENSG00000112695	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11964811	1.00[EUR][1000 genomes]
rs45571640	1.00[EUR][1000 genomes]
rs4708053	1.00[EUR][1000 genomes]
rs571508	1.00[EUR][1000 genomes]
rs59903417	1.00[EUR][1000 genomes]
rs6905319	1.00[EUR][1000 genomes]
rs6909346	1.00[EUR][1000 genomes]
rs6930349	1.00[EUR][1000 genomes]
rs73450693	1.00[EUR][1000 genomes]
rs73754636	1.00[EUR][1000 genomes]
rs73754640	1.00[EUR][1000 genomes]
rs9442927	1.00[EUR][1000 genomes]
rs9446934	1.00[EUR][1000 genomes]
rs9446936	1.00[EUR][1000 genomes]
rs9446937	1.00[EUR][1000 genomes]
rs9446956	1.00[EUR][1000 genomes]
rs9446969	1.00[EUR][1000 genomes]
rs9446971	1.00[EUR][1000 genomes]
rs9446974	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	esv2763576	chr6:74197638-74277249	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
9	nsv5350	chr6:74221995-74267088	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
10	nsv886159	chr6:74223153-74275405	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
11	nsv463153	chr6:74229258-74290291	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
12	nsv603693	chr6:74229258-74290291	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74227200-74232000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:74227800-74233800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:74228600-74232000	Active TSS	Fetal Brain Female	brain
4	chr6:74229000-74232000	Active TSS	Aorta	Aorta
5	chr6:74229200-74232000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr6:74229200-74232000	Active TSS	Small Intestine	intestine
7	chr6:74229400-74232000	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr6:74229400-74232200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:74229600-74232000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:74230000-74232000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr6:74230000-74232000	Active TSS	Stomach Smooth Muscle	stomach
12	chr6:74230000-74232200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr6:74230000-74232200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr6:74230000-74233600	Active TSS	GM12878-XiMat	blood
15	chr6:74230000-74233800	Active TSS	HSMM	muscle
16	chr6:74230000-74233800	Active TSS	K562	blood
17	chr6:74230400-74232000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:74230400-74232000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:74230400-74232000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:74230400-74232200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:74230600-74232000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:74230600-74232000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr6:74230600-74232000	Active TSS	NHLF	lung
24	chr6:74230600-74232200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:74230800-74232000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr6:74230800-74233000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:74230800-74234200	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr6:74231200-74232000	ZNF genes & repeats	Fetal Brain Male	brain
29	chr6:74231400-74232000	Active TSS	Psoas Muscle	Psoas
30	chr6:74231400-74232000	Active TSS	Right Atrium	heart
31	chr6:74231400-74232200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr6:74231400-74232200	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr6:74231400-74232200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:74231400-74232400	Weak transcription	Spleen	Spleen
35	chr6:74231400-74233000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr6:74231400-74234200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr6:74231600-74232000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:74231600-74232000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:74231600-74232000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr6:74231600-74232000	Flanking Active TSS	Fetal Heart	heart
41	chr6:74231600-74232000	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr6:74231600-74232000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
43	chr6:74231600-74232200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr6:74231600-74232200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:74231600-74232200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:74231600-74232200	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr6:74231600-74232200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr6:74231600-74232200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:74231600-74232200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr6:74231600-74232200	Flanking Active TSS	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links