Variant report

Variant	rs1334512
Chromosome Location	chr7:80267904-80267905
allele	G/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	RELA	chr7:80267461-80268109	GM12891	blood:	n/a	n/a
2	BCL11A	chr7:80267588-80268026	GM12878	blood:	n/a	n/a
3	POU2F2	chr7:80267661-80268044	GM12878	blood:	n/a	chr7:80267923-80267936 chr7:80267923-80267936 chr7:80267906-80267918 chr7:80267923-80267936
4	SPI1	chr7:80267289-80268110	GM12878	blood:	n/a	chr7:80267573-80267582 chr7:80267833-80267842
5	RELA	chr7:80267566-80268064	GM12878	blood:	n/a	n/a
6	ZNF384	chr7:80267576-80268015	GM12878	blood:	n/a	n/a
7	IKZF1	chr7:80267583-80268063	GM12878	blood:	n/a	n/a
8	BATF	chr7:80267605-80267988	GM12878	blood:	n/a	n/a
9	SP1	chr7:80267560-80267946	GM12878	blood:	n/a	chr7:80267908-80267917 chr7:80267914-80267924 chr7:80267904-80267918 chr7:80267907-80267919 chr7:80267914-80267924 chr7:80267907-80267919
10	RUNX3	chr7:80267512-80268111	GM12878	blood:	n/a	n/a
11	SPI1	chr7:80267456-80268067	GM12891	blood:	n/a	chr7:80267573-80267582 chr7:80267833-80267842
12	ATF2	chr7:80267578-80268064	GM12878	blood:	n/a	n/a
13	SPI1	chr7:80267462-80268018	GM12891	blood:	n/a	chr7:80267573-80267582 chr7:80267833-80267842
14	BHLHE40	chr7:80267457-80267965	GM12878	blood:	n/a	n/a
15	BCLAF1	chr7:80267523-80268057	GM12878	blood:	n/a	chr7:80267573-80267582
16	MTA3	chr7:80267491-80268118	GM12878	blood:	n/a	n/a
17	STAT5A	chr7:80267468-80268085	GM12878	blood:	n/a	chr7:80267904-80267916 chr7:80267908-80267920 chr7:80267607-80267614 chr7:80267910-80267922 chr7:80267905-80267917
18	STAT3	chr7:80267742-80268034	GM12878	blood:	n/a	chr7:80267904-80267916 chr7:80267908-80267920 chr7:80267910-80267922 chr7:80267905-80267917
19	SPI1	chr7:80267685-80268039	HL-60	blood:	n/a	chr7:80267833-80267842
20	POU2F2	chr7:80267734-80268030	GM12891	blood:	n/a	chr7:80267923-80267936 chr7:80267923-80267936 chr7:80267906-80267918 chr7:80267923-80267936
21	REST	chr7:80267729-80267970	GM12878	blood:	n/a	n/a
22	RELA	chr7:80267586-80268027	GM18951	blood:	n/a	n/a
23	SPI1	chr7:80267480-80267984	GM12878	blood:	n/a	chr7:80267573-80267582 chr7:80267833-80267842
24	PML	chr7:80267712-80267975	GM12878	blood:	n/a	chr7:80267884-80267892
25	PAX5	chr7:80267636-80268084	GM12878	blood:	n/a	chr7:80267667-80267676 chr7:80267886-80267895
26	BCL11A	chr7:80267684-80267984	GM12878	blood:	n/a	n/a
27	IRF4	chr7:80267610-80268027	GM12878	blood:	n/a	n/a
28	CEBPB	chr7:80267337-80268157	GM12878	blood:	n/a	chr7:80267547-80267560 chr7:80267352-80267363 chr7:80267356-80267367
29	TBL1XR1	chr7:80267561-80268033	GM12878	blood:	n/a	n/a
30	RELA	chr7:80267103-80268072	GM18505	blood:	n/a	n/a
31	FOXM1	chr7:80267442-80268135	GM12878	blood:	n/a	n/a
32	NFIC	chr7:80266693-80268248	GM12878	blood:	n/a	chr7:80267704-80267720
33	SPI1	chr7:80267733-80267970	GM12878	blood:	n/a	chr7:80267833-80267842
34	MEF2C	chr7:80267509-80268019	GM12878	blood:	n/a	chr7:80267666-80267674 chr7:80267772-80267783 chr7:80267773-80267784 chr7:80267771-80267785 chr7:80267773-80267782 chr7:80267766-80267787 chr7:80267769-80267784
35	ATF2	chr7:80267373-80268134	GM12878	blood:	n/a	n/a
36	CHD2	chr7:80267673-80268042	GM12878	blood:	n/a	chr7:80267904-80267914 chr7:80267907-80267917
37	REST	chr7:80267736-80267973	Hela-S3	cervix:	n/a	n/a
38	CUX1	chr7:80267613-80268081	GM12878	blood:	n/a	n/a
39	EBF1	chr7:80267596-80268016	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:80267654-80268704	PBDE	blood:	n/a	n/a
41	MEF2A	chr7:80267381-80268104	GM12878	blood:	n/a	chr7:80267666-80267674 chr7:80267772-80267783 chr7:80267773-80267784 chr7:80268074-80268095 chr7:80267771-80267785 chr7:80267773-80267782 chr7:80267766-80267787 chr7:80268074-80268095
42	NFATC1	chr7:80267418-80268087	GM12878	blood:	n/a	n/a
43	PML	chr7:80267475-80268166	GM12878	blood:	n/a	chr7:80267884-80267892
44	EP300	chr7:80267477-80268066	GM12878	blood:	n/a	chr7:80267886-80267900
45	MEF2A	chr7:80267472-80268013	GM12878	blood:	n/a	chr7:80267666-80267674 chr7:80267772-80267783 chr7:80267773-80267784 chr7:80267771-80267785 chr7:80267773-80267782 chr7:80267766-80267787
46	NFIC	chr7:80267393-80268185	GM12878	blood:	n/a	chr7:80267704-80267720
47	BCL3	chr7:80267478-80268093	GM12878	blood:	n/a	chr7:80267573-80267582
48	SRF	chr7:80267705-80267951	GM12878	blood:	n/a	n/a
49	MTA3	chr7:80267521-80268028	GM12878	blood:	n/a	n/a
50	EP300	chr7:80267633-80268009	GM12878	blood:	n/a	chr7:80267886-80267900

Variant related genes	Relation type
CD36	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10216184	0.84[AMR][1000 genomes]
rs10265215	0.84[AMR][1000 genomes]
rs10265457	0.84[AMR][1000 genomes]
rs12706916	0.81[AMR][1000 genomes]
rs28645928	0.84[AMR][1000 genomes]
rs3211827	0.81[AMR][1000 genomes]
rs62461724	0.81[AMR][1000 genomes]
rs997906	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv888527	chr7:80248029-80279460	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv888528	chr7:80252518-80280117	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv888529	chr7:80252518-80295701	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1023254	chr7:80256255-80272725	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1027411	chr7:80256255-80276756	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1032295	chr7:80256738-80276756	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv2761341	chr7:80256738-80276768	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv888530	chr7:80258564-80279460	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv888531	chr7:80258564-80280117	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv888532	chr7:80258564-80282636	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv971195	chr7:80260254-80270989	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv464607	chr7:80262830-80288854	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv607683	chr7:80262830-80288854	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	esv2077990	chr7:80267904-80267905	Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80260400-80273400	Weak transcription	Small Intestine	intestine
2	chr7:80262400-80272600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:80263400-80268000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:80263400-80268000	Enhancers	NHLF	lung
5	chr7:80263800-80268000	Weak transcription	Placenta	Placenta
6	chr7:80263800-80270400	Weak transcription	HMEC	breast
7	chr7:80264200-80270000	Weak transcription	HSMM	muscle
8	chr7:80264600-80268400	Weak transcription	Liver	Liver
9	chr7:80264800-80268200	Enhancers	Fetal Heart	heart
10	chr7:80265400-80269200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:80265400-80269800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:80265400-80270400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:80265600-80269400	Weak transcription	Osteobl	bone
14	chr7:80265800-80268000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:80266000-80268200	Enhancers	GM12878-XiMat	blood
16	chr7:80266000-80271400	Active TSS	Psoas Muscle	Psoas
17	chr7:80266000-80271800	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr7:80266200-80270800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:80266200-80272000	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr7:80266400-80269000	Weak transcription	Fetal Lung	lung
21	chr7:80266400-80271400	Active TSS	Fetal Muscle Leg	muscle
22	chr7:80266400-80271600	Weak transcription	HepG2	liver
23	chr7:80267000-80268200	Enhancers	Primary hematopoietic stem cells	blood
24	chr7:80267000-80268200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr7:80267000-80272200	Active TSS	Right Atrium	heart
26	chr7:80267200-80268000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:80267400-80268000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:80267400-80269800	Weak transcription	NHDF-Ad	bronchial
29	chr7:80267600-80268000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:80267600-80268000	Active TSS	Left Ventricle	heart
31	chr7:80267600-80268200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr7:80267600-80268200	Active TSS	Fetal Muscle Trunk	muscle
33	chr7:80267600-80268400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:80267600-80269800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:80267600-80273200	Active TSS	Adipose Nuclei	Adipose
36	chr7:80267800-80268000	Active TSS	Primary B cells from cord blood	blood
37	chr7:80267800-80268200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr7:80267800-80268200	Active TSS	Right Ventricle	heart
39	chr7:80267800-80270600	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr7:80267800-80270600	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr7:80267800-80272000	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links