Variant report

Variant	rs726044
Chromosome Location	chr12:50580893-50580894
allele	A/G
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	GATA3	chr12:50579485-50581744	SK-N-SH	brain:	n/a	chr12:50579815-50579826 chr12:50580120-50580130
2	BCL11A	chr12:50580830-50581325	GM12878	blood:	n/a	chr12:50581196-50581205
3	RUNX3	chr12:50580852-50581314	GM12878	blood:	n/a	n/a
4	BCLAF1	chr12:50580850-50581518	GM12878	blood:	n/a	chr12:50581196-50581205
5	MEF2A	chr12:50580871-50581430	GM12878	blood:	n/a	n/a
6	TBP	chr12:50580864-50581371	GM12878	blood:	n/a	n/a
7	TCF12	chr12:50579642-50581822	SK-N-SH	brain:	n/a	chr12:50581466-50581473 chr12:50579929-50579937
8	POLR2A	chr12:50579654-50581629	SK-N-SH	brain:	n/a	n/a
9	GATA2	chr12:50579676-50580911	HUVEC	blood vessel:	n/a	chr12:50579815-50579826 chr12:50580120-50580130
10	TEAD4	chr12:50580359-50581504	SK-N-SH	brain:	n/a	n/a
11	EP300	chr12:50580352-50581687	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr12:50579530-50581691	SK-N-SH	brain:	n/a	chr12:50579815-50579826 chr12:50580120-50580130
13	BHLHE40	chr12:50580888-50581338	GM12878	blood:	n/a	n/a
14	EP300	chr12:50580862-50581529	GM12878	blood:	n/a	n/a
15	FOSL2	chr12:50579575-50581457	SK-N-SH	brain:	n/a	chr12:50580642-50580650
16	PBX3	chr12:50580371-50581516	SK-N-SH	brain:	n/a	n/a
17	SP1	chr12:50580856-50581323	GM12878	blood:	n/a	n/a
18	RUNX3	chr12:50580795-50581569	GM12878	blood:	n/a	n/a
19	TBL1XR1	chr12:50580726-50581320	GM12878	blood:	n/a	n/a
20	CREB1	chr12:50580867-50581394	GM12878	blood:	n/a	n/a
21	NFIC	chr12:50580767-50581459	GM12878	blood:	n/a	n/a
22	EP300	chr12:50580865-50581171	SK-N-SH_RA	brain:	n/a	n/a
23	BCL11A	chr12:50580873-50581305	GM12878	blood:	n/a	chr12:50581196-50581205
24	TEAD4	chr12:50580468-50581507	SK-N-SH	brain:	n/a	n/a
25	ATF2	chr12:50580857-50581419	GM12878	blood:	n/a	n/a
26	ZNF384	chr12:50580727-50581115	GM12878	blood:	n/a	n/a
27	JUND	chr12:50579606-50581441	SK-N-SH	brain:	n/a	chr12:50580642-50580650
28	EP300	chr12:50580437-50581599	SK-N-SH	brain:	n/a	n/a
29	PBX3	chr12:50580460-50581728	SK-N-SH	brain:	n/a	n/a
30	CREB1	chr12:50580734-50581553	GM12878	blood:	n/a	n/a
31	ATF2	chr12:50580821-50581403	GM12878	blood:	n/a	n/a
32	TCF12	chr12:50579476-50581538	SK-N-SH	brain:	n/a	chr12:50581466-50581473 chr12:50579929-50579937
33	JUND	chr12:50579494-50581416	SK-N-SH	brain:	n/a	chr12:50580642-50580650
34	EP300	chr12:50580822-50581371	GM12878	blood:	n/a	n/a
35	SP1	chr12:50580861-50581366	GM12878	blood:	n/a	n/a
36	NFIC	chr12:50580471-50581705	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50580197..50581923-chr12:50586405..50588102,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CERS5-1	chr12:50579363-50584044	ENSG00000257298.1

Variant related genes	Relation type
LIMA1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17124532	0.96[MKK][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs2232209	1.00[EUR][1000 genomes]
rs55853170	1.00[EUR][1000 genomes]
rs7304815	1.00[EUR][1000 genomes]
rs74089213	1.00[EUR][1000 genomes]
rs7976860	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50561800-50582600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:50561800-50582600	Weak transcription	Stomach Mucosa	stomach
3	chr12:50562000-50584800	Weak transcription	K562	blood
4	chr12:50562200-50597000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:50564400-50586200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:50564400-50600800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:50568600-50582000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:50568800-50581400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr12:50569400-50581400	Weak transcription	Brain Substantia Nigra	brain
10	chr12:50570000-50601400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:50570400-50592800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:50570600-50582800	Weak transcription	Small Intestine	intestine
13	chr12:50570800-50589800	Strong transcription	Fetal Stomach	stomach
14	chr12:50571600-50581400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:50571800-50581400	Weak transcription	Spleen	Spleen
16	chr12:50571800-50586000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:50571800-50586200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:50571800-50595800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:50571800-50597000	Weak transcription	Thymus	Thymus
20	chr12:50571800-50597600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:50571800-50614200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:50572000-50581600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:50572000-50586000	Weak transcription	Left Ventricle	heart
24	chr12:50572200-50581400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:50572200-50581400	Weak transcription	Esophagus	oesophagus
26	chr12:50572200-50582200	Weak transcription	Lung	lung
27	chr12:50572200-50614000	Weak transcription	Right Ventricle	heart
28	chr12:50572600-50586200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:50575600-50586000	Weak transcription	Dnd41	blood
30	chr12:50575800-50581000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:50575800-50581000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:50575800-50581200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:50575800-50581400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:50575800-50581600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:50575800-50582400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:50575800-50582800	Weak transcription	Hela-S3	cervix
37	chr12:50575800-50585000	Weak transcription	Liver	Liver
38	chr12:50575800-50586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:50576000-50581000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:50576000-50581000	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:50576000-50581400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:50576000-50582000	Weak transcription	Fetal Lung	lung
43	chr12:50576000-50582200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:50576000-50582400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:50576000-50582600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:50576000-50582600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr12:50576000-50584600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:50576000-50584600	Weak transcription	Fetal Thymus	thymus
49	chr12:50576000-50586200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:50576200-50582200	Weak transcription	Primary T cells fromperipheralblood	blood

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