Variant report

Variant	rs537247798
Chromosome Location	chr12:65019162-65019163
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	CTCF	chr12:65018992-65019264	GM12878	blood:	n/a	n/a
2	CEBPB	chr12:65018912-65019489	K562	blood:	n/a	chr12:65018912-65018920
3	SMC3	chr12:65019045-65019880	GM12878	blood:	n/a	n/a
4	TBP	chr12:65019136-65019731	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:65019162-65019170	HepG2	liver:	n/a	n/a
6	EP300	chr12:65019012-65019896	GM12878	blood:	n/a	chr12:65019242-65019251 chr12:65019642-65019651 chr12:65019244-65019258 chr12:65019238-65019252
7	RUNX3	chr12:65018942-65019902	GM12878	blood:	n/a	n/a
8	BCL3	chr12:65018952-65019624	A549	lung:	n/a	n/a
9	CUX1	chr12:65018844-65019907	K562	blood:	n/a	n/a
10	SP1	chr12:65018851-65020041	A549	lung:	n/a	n/a
11	USF1	chr12:65018954-65019887	A549	lung:	n/a	chr12:65019469-65019485 chr12:65019646-65019657
12	FOXM1	chr12:65019009-65019752	MCF-7	breast:	n/a	n/a
13	FOS	chr12:65018929-65019837	MCF10A-Er-Src	breast:	n/a	chr12:65019387-65019397 chr12:65019387-65019397 chr12:65019387-65019397 chr12:65019643-65019651 chr12:65019644-65019651 chr12:65019818-65019830 chr12:65019642-65019652
14	MAFK	chr12:65019035-65019854	K562	blood:	n/a	n/a
15	ELF1	chr12:65019013-65019669	MCF-7	breast:	n/a	chr12:65019242-65019253
16	MYBL2	chr12:65018915-65019794	HepG2	liver:	n/a	n/a
17	CREB1	chr12:65018889-65019947	GM12878	blood:	n/a	n/a
18	MAX	chr12:65018883-65020041	A549	lung:	n/a	chr12:65019642-65019651 chr12:65019643-65019652 chr12:65019647-65019656
19	IRF1	chr12:65019026-65019645	K562	blood:	n/a	n/a
20	TBP	chr12:65019065-65019911	GM12878	blood:	n/a	n/a
21	RUNX3	chr12:65018646-65019980	GM12878	blood:	n/a	n/a
22	RELA	chr12:65019084-65019821	GM19193	blood:	n/a	chr12:65019340-65019349 chr12:65019340-65019349
23	GATA3	chr12:65019131-65019702	MCF-7	breast:	n/a	chr12:65019256-65019263 chr12:65019255-65019265 chr12:65019252-65019263 chr12:65019256-65019265 chr12:65019256-65019263 chr12:65019256-65019265 chr12:65019256-65019263 chr12:65019249-65019270
24	GABPA	chr12:65019137-65019837	A549	lung:	n/a	chr12:65019326-65019333
25	MYC	chr12:65018911-65019838	K562	blood:	n/a	chr12:65019642-65019651 chr12:65019643-65019652 chr12:65019647-65019656
26	CEBPB	chr12:65018949-65019713	A549	lung:	n/a	n/a
27	WRNIP1	chr12:65018947-65019785	GM12878	blood:	n/a	n/a
28	TEAD4	chr12:65018862-65019962	K562	blood:	n/a	n/a
29	BRCA1	chr12:65019057-65019823	Hela-S3	cervix:	n/a	n/a
30	NR2F2	chr12:65018691-65019901	K562	blood:	n/a	n/a
31	NR3C1	chr12:65019092-65019696	A549	lung:	n/a	chr12:65019526-65019539 chr12:65019529-65019536 chr12:65019530-65019539
32	RAD21	chr12:65019002-65019241	HepG2	liver:	n/a	chr12:65019084-65019094 chr12:65019082-65019095
33	HEY1	chr12:65019113-65019709	HepG2	liver:	n/a	n/a
34	BHLHE40	chr12:65018993-65019875	K562	blood:	n/a	chr12:65019469-65019485
35	MAX	chr12:65018914-65019960	A549	lung:	n/a	chr12:65019642-65019651 chr12:65019643-65019652 chr12:65019647-65019656
36	CEBPB	chr12:65018845-65019794	A549	lung:	n/a	chr12:65018912-65018920
37	ZNF217	chr12:65019025-65019661	MCF-7	breast:	n/a	n/a
38	FOS	chr12:65019026-65019893	HUVEC	blood vessel:	n/a	chr12:65019387-65019397 chr12:65019387-65019397 chr12:65019387-65019397 chr12:65019643-65019651 chr12:65019644-65019651 chr12:65019818-65019830 chr12:65019642-65019652
39	FOS	chr12:65019001-65019833	MCF10A-Er-Src	breast:	n/a	chr12:65019387-65019397 chr12:65019387-65019397 chr12:65019387-65019397 chr12:65019643-65019651 chr12:65019644-65019651 chr12:65019818-65019830 chr12:65019642-65019652
40	RELA	chr12:65019117-65019823	GM19099	blood:	n/a	chr12:65019340-65019349 chr12:65019340-65019349
41	RFX5	chr12:65019113-65019545	GM12878	blood:	n/a	n/a
42	PML	chr12:65018950-65019795	K562	blood:	n/a	n/a
43	NFIC	chr12:65018857-65019995	GM12878	blood:	n/a	n/a
44	CTCF	chr12:65019028-65019172	HUVEC	blood vessel:	n/a	n/a
45	NRF1	chr12:65019140-65019400	K562	blood:	n/a	chr12:65019326-65019333
46	FOSL2	chr12:65018916-65019873	MCF-7	breast:	n/a	chr12:65019387-65019397 chr12:65019387-65019397 chr12:65019387-65019397 chr12:65019643-65019651 chr12:65019644-65019651 chr12:65019818-65019830 chr12:65019642-65019652
47	ELF1	chr12:65019024-65019764	MCF-7	breast:	n/a	chr12:65019242-65019253
48	MYC	chr12:65018967-65019782	MCF10A-Er-Src	breast:	n/a	chr12:65019642-65019651 chr12:65019643-65019652 chr12:65019647-65019656
49	FOXM1	chr12:65019122-65019921	GM12878	blood:	n/a	n/a
50	MXI1	chr12:65019015-65019866	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:65019020..65021619-chr12:65065192..65067422,3	MCF-7	breast:
2	chr12:65017129..65019171-chr12:65067339..65069384,2	MCF-7	breast:
3	chr12:65004562..65005411-chr12:65018842..65019420,4	MCF-7	breast:
4	chr12:65018082..65020499-chr12:65056309..65058062,2	MCF-7	breast:
5	chr12:65018895..65020884-chr12:65086015..65088325,2	MCF-7	breast:
6	chr12:65010556..65012937-chr12:65017376..65021348,4	K562	blood:
7	chr12:65018029..65021346-chr12:65072247..65076410,6	MCF-7	breast:
8	chr12:65008839..65011429-chr12:65017334..65019705,2	MCF-7	breast:
9	chr12:65018258..65020873-chr12:65068837..65071390,2	MCF-7	breast:
10	chr12:65011462..65014885-chr12:65017332..65020916,6	MCF-7	breast:
11	chr12:65001678..65008078-chr12:65013108..65023657,17	MCF-7	breast:
12	chr12:65017089..65019712-chr12:65042869..65045588,2	MCF-7	breast:
13	chr12:65016442..65019284-chr12:65019658..65023232,4	MCF-7	breast:
14	chr12:65008925..65011325-chr12:65018761..65021697,3	MCF-7	breast:
15	chr12:65018061..65020835-chr12:65174615..65176151,2	MCF-7	breast:
16	chr12:65004562..65005438-chr12:65018842..65019420,5	MCF-7	breast:
17	chr12:65001526..65007900-chr12:65015799..65021807,8	K562	blood:

Variant related genes	Relation type
ENSG00000225195	TF binding region
ENSG00000256670	Chromatin interaction
ENSG00000111490	Chromatin interaction
ENSG00000225195	Chromatin interaction
ENSG00000153179	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1048199	chr12:64951666-65021700	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv541512	chr12:64951666-65021700	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	esv3487503	chr12:65016285-65019683	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
11	esv3487501	chr12:65016735-65019533	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	esv3487499	chr12:65017087-65019353	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv438218	chr12:65017844-65037483	Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65006200-65019400	Weak transcription	Psoas Muscle	Psoas
2	chr12:65006800-65031800	Weak transcription	Dnd41	blood
3	chr12:65007000-65019200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:65009200-65019200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:65009800-65019200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:65009800-65019400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:65010000-65023200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:65010200-65019400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:65010800-65022200	Weak transcription	Spleen	Spleen
10	chr12:65012400-65019200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:65012600-65019200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:65013000-65019200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:65013200-65019200	Weak transcription	Brain Anterior Caudate	brain
14	chr12:65013200-65019400	Weak transcription	Esophagus	oesophagus
15	chr12:65013200-65019400	Weak transcription	Ovary	ovary
16	chr12:65013400-65019200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr12:65013600-65019400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:65016400-65019200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr12:65016800-65019400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:65016800-65020600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:65017000-65019800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:65017000-65019800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:65017200-65019600	Enhancers	Fetal Heart	heart
24	chr12:65017200-65019800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr12:65017400-65019200	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:65017400-65020200	Enhancers	Small Intestine	intestine
27	chr12:65017600-65019200	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr12:65017600-65019600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr12:65017800-65019200	Enhancers	Colon Smooth Muscle	Colon
30	chr12:65018000-65019200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:65018000-65021200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:65018000-65024600	Weak transcription	Aorta	Aorta
33	chr12:65018200-65019200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:65018200-65019200	Enhancers	Fetal Intestine Small	intestine
35	chr12:65018200-65019200	Enhancers	Left Ventricle	heart
36	chr12:65018200-65019200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:65018200-65019400	Enhancers	Fetal Intestine Large	intestine
38	chr12:65018200-65019800	Enhancers	Stomach Mucosa	stomach
39	chr12:65018200-65020200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:65018200-65020600	Enhancers	Lung	lung
41	chr12:65018400-65019200	Enhancers	Brain Hippocampus Middle	brain
42	chr12:65018400-65019200	Enhancers	Brain Substantia Nigra	brain
43	chr12:65018400-65019200	Enhancers	Placenta	Placenta
44	chr12:65018400-65019400	Enhancers	Adipose Nuclei	Adipose
45	chr12:65018400-65019600	Enhancers	Pancreas	Pancrea
46	chr12:65018400-65019800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr12:65018400-65020200	Flanking Active TSS	Hela-S3	cervix
48	chr12:65018400-65029200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:65018600-65019200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:65018600-65019400	Enhancers	Fetal Muscle Leg	muscle

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