Variant report

Variant	rs73193606
Chromosome Location	chr12:105352943-105352944
allele	A/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	NR2F2	chr12:105352903-105353648	MCF-7	breast:	n/a	n/a
2	MXI1	chr12:105351312-105353134	IMR90	lung:	n/a	chr12:105352490-105352499 chr12:105352492-105352501
3	POLR2A	chr12:105351807-105353413	HepG2	liver:	n/a	n/a
4	GATA1	chr12:105352714-105354240	K562	blood:	n/a	n/a
5	POLR2A	chr12:105352700-105353043	HepG2	liver:	n/a	n/a
6	GTF2F1	chr12:105352385-105353624	Hela-S3	cervix:	n/a	n/a
7	BHLHE40	chr12:105352919-105353529	K562	blood:	n/a	n/a
8	MXI1	chr12:105352901-105353451	HepG2	liver:	n/a	n/a
9	MXI1	chr12:105351791-105353502	Hela-S3	cervix:	n/a	chr12:105352490-105352499 chr12:105352492-105352501
10	MYC	chr12:105351871-105353496	K562	blood:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
11	NR2F2	chr12:105352060-105353669	MCF-7	breast:	n/a	n/a
12	MYC	chr12:105352014-105352972	Hela-S3	cervix:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
13	MAX	chr12:105351719-105353524	MCF-7	breast:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105351860-105351871 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
14	CEBPB	chr12:105352141-105353025	GM12878	blood:	n/a	n/a
15	RCOR1	chr12:105352908-105353502	K562	blood:	n/a	n/a
16	POLR2A	chr12:105352232-105352995	HepG2	liver:	n/a	n/a
17	MAX	chr12:105352148-105353251	ECC-1	luminal epithelium:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
18	NR2F2	chr12:105352909-105353602	K562	blood:	n/a	n/a
19	MAX	chr12:105351675-105353027	A549	lung:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105351860-105351871 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
20	GATA3	chr12:105352252-105353628	MCF-7	breast:	n/a	n/a
21	MAZ	chr12:105351387-105354117	IMR90	lung:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105351860-105351871 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
22	MYC	chr12:105352303-105353509	MCF10A-Er-Src	breast:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
23	SP1	chr12:105352073-105353533	A549	lung:	n/a	n/a
24	FOS	chr12:105352301-105352962	MCF10A-Er-Src	breast:	n/a	chr12:105352410-105352418 chr12:105352410-105352417 chr12:105352408-105352419
25	POLR2A	chr12:105351512-105353067	GM18505	blood:	n/a	n/a
26	MYC	chr12:105351809-105353749	A549	lung:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105351860-105351871 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
27	MAX	chr12:105352248-105353667	Hela-S3	cervix:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
28	USF2	chr12:105352298-105352971	Hela-S3	cervix:	n/a	chr12:105352489-105352500
29	GATA3	chr12:105351716-105353646	A549	lung:	n/a	n/a
30	KAP1	chr12:105352278-105353502	U2OS	brain:	n/a	n/a
31	GATA3	chr12:105352251-105353742	MCF-7	breast:	n/a	n/a
32	KAP1	chr12:105352327-105354133	HEK293	kidney:	n/a	n/a
33	CTCF	chr12:105352860-105353010	SAEC	small airway:	n/a	n/a
34	ZNF263	chr12:105351328-105353504	HEK293-T-REx	kidney:	n/a	n/a
35	TCF12	chr12:105352942-105353840	SK-N-SH	brain:	n/a	n/a
36	MAFK	chr12:105352226-105353094	HepG2	liver:	n/a	chr12:105352283-105352298
37	RCOR1	chr12:105351457-105353553	Hela-S3	cervix:	n/a	n/a
38	SMARCB1	chr12:105351408-105353084	Hela-S3	cervix:	n/a	n/a
39	NR2F2	chr12:105352868-105353514	K562	blood:	n/a	n/a
40	MTA3	chr12:105351752-105353020	GM12878	blood:	n/a	n/a
41	TCF12	chr12:105351599-105353121	ECC-1	luminal epithelium:	n/a	chr12:105351803-105351810
42	GATA3	chr12:105352050-105353803	SK-N-SH	brain:	n/a	n/a
43	TCF12	chr12:105351934-105353182	ECC-1	luminal epithelium:	n/a	n/a
44	MAX	chr12:105351640-105353165	A549	lung:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105351860-105351871 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
45	HDAC2	chr12:105351591-105353532	MCF-7	breast:	n/a	n/a
46	GATA3	chr12:105352252-105353513	T-47D	breast:	n/a	n/a
47	SP1	chr12:105351737-105353429	A549	lung:	n/a	chr12:105351940-105351949 chr12:105351789-105351803 chr12:105351941-105351950 chr12:105351935-105351948
48	TBP	chr12:105352288-105353821	Hela-S3	cervix:	n/a	n/a
49	SIX5	chr12:105352165-105353275	A549	lung:	n/a	n/a
50	MAX	chr12:105351722-105353149	ECC-1	luminal epithelium:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105351860-105351871 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501

No.	Distal block	Cell Line	Cell type
1	chr12:105351138..105353772-chr12:105378582..105380234,3	MCF-7	breast:
2	chr12:105349646..105353787-chr12:105376379..105382982,10	MCF-7	breast:
3	chr12:105352802..105355166-chr12:105362542..105365310,2	MCF-7	breast:
4	chr12:105318476..105323326-chr12:105350867..105355215,4	MCF-7	breast:
5	chr12:105343851..105348812-chr12:105350003..105354386,8	MCF-7	breast:
6	chr12:104528832..104532197-chr12:105351511..105353407,3	MCF-7	breast:
7	chr12:105345347..105347103-chr12:105350407..105353151,2	MCF-7	breast:
8	chr12:104702212..104703801-chr12:105351869..105353641,2	MCF-7	breast:
9	chr12:105344565..105347442-chr12:105349621..105353002,3	K562	blood:

Variant related genes	Relation type
SLC41A2	TF binding region
ENSG00000265054	Chromatin interaction
ENSG00000136052	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000151131	Chromatin interaction
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10746008	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10778355	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10778358	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10861294	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10861296	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11112253	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610388	0.88[ASN][1000 genomes]
rs2248986	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2249454	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2264892	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2468337	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4334113	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4388976	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4393404	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4964310	0.82[ASN][1000 genomes]
rs6539171	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7135015	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7138686	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7309240	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7967503	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7968763	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9668618	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105350400-105353400	Active TSS	Aorta	Aorta
2	chr12:105350600-105353400	Active TSS	Ovary	ovary
3	chr12:105350800-105353000	Active TSS	Brain Anterior Caudate	brain
4	chr12:105351200-105353000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:105351200-105353000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:105351400-105353000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:105351400-105353000	Active TSS	Fetal Brain Female	brain
8	chr12:105351400-105353000	Active TSS	Right Ventricle	heart
9	chr12:105351600-105353000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:105351600-105353200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr12:105352200-105353000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr12:105352200-105353000	Enhancers	Fetal Heart	heart
13	chr12:105352200-105353000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
14	chr12:105352200-105353000	Flanking Bivalent TSS/Enh	Dnd41	blood
15	chr12:105352200-105353400	Flanking Active TSS	HMEC	breast
16	chr12:105352200-105353800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr12:105352400-105353000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr12:105352400-105353000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr12:105352400-105353000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:105352400-105353000	Active TSS	Brain Germinal Matrix	brain
21	chr12:105352400-105353000	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr12:105352400-105353000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
23	chr12:105352400-105353200	Flanking Active TSS	Colonic Mucosa	Colon
24	chr12:105352400-105353200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr12:105352400-105353400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr12:105352400-105353400	Flanking Active TSS	GM12878-XiMat	blood
27	chr12:105352400-105353400	Flanking Active TSS	HSMM	muscle
28	chr12:105352400-105353400	Flanking Active TSS	K562	blood
29	chr12:105352400-105353400	Flanking Active TSS	NHEK	skin
30	chr12:105352400-105353600	Flanking Active TSS	Liver	Liver
31	chr12:105352600-105353000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:105352600-105353000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr12:105352600-105353000	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr12:105352600-105353000	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr12:105352600-105353000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr12:105352600-105353000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr12:105352600-105353000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr12:105352600-105353000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr12:105352600-105353000	Flanking Active TSS	Thymus	Thymus
40	chr12:105352600-105353200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr12:105352600-105353200	Enhancers	Fetal Lung	lung
42	chr12:105352600-105353200	Enhancers	Lung	lung
43	chr12:105352600-105353400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:105352600-105353400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr12:105352600-105353600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:105352600-105353600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:105352600-105353600	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr12:105352600-105353600	Bivalent Enhancer	Fetal Intestine Large	intestine
49	chr12:105352600-105353600	Flanking Active TSS	A549	lung
50	chr12:105352600-105353800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links