Variant report

Variant	rs2279760
Chromosome Location	chr12:106695366-106695367
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	MAFK	chr12:106694568-106695910	K562	blood:	n/a	n/a
2	GATA2	chr12:106695339-106695993	K562	blood:	n/a	n/a
3	NRF1	chr12:106695308-106695766	GM12878	blood:	n/a	n/a
4	EP300	chr12:106695121-106695896	K562	blood:	n/a	n/a
5	POLR2A	chr12:106695340-106695985	Hela-S3	cervix:	n/a	n/a
6	ZNF143	chr12:106695323-106695946	K562	blood:	n/a	n/a
7	FOXA1	chr12:106695317-106695909	HepG2	liver:	n/a	chr12:106695617-106695632
8	TRIM28	chr12:106695353-106696068	K562	blood:	n/a	n/a
9	TEAD4	chr12:106695337-106696082	K562	blood:	n/a	n/a
10	RCOR1	chr12:106695135-106697488	K562	blood:	n/a	n/a
11	MYC	chr12:106695135-106696053	K562	blood:	n/a	n/a
12	SMARCC1	chr12:106695036-106696029	Hela-S3	cervix:	n/a	n/a
13	TEAD4	chr12:106695076-106696171	K562	blood:	n/a	n/a
14	MXI1	chr12:106695196-106698197	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr12:106695137-106696053	PBDE	blood:	n/a	n/a
16	EBF1	chr12:106694967-106696819	GM12878	blood:	n/a	chr12:106695605-106695616
17	POLR2A	chr12:106695130-106701174	MCF10A-Er-Src	breast:	n/a	n/a
18	SIN3AK20	chr12:106695325-106697614	MCF-7	breast:	n/a	n/a
19	MTA3	chr12:106695356-106696009	GM12878	blood:	n/a	n/a
20	IRF1	chr12:106695364-106695955	K562	blood:	n/a	n/a
21	MAZ	chr12:106695193-106697500	K562	blood:	n/a	n/a
22	EP300	chr12:106695347-106695998	K562	blood:	n/a	n/a
23	FOXA1	chr12:106695357-106695804	T-47D	breast:	n/a	chr12:106695617-106695632
24	WRNIP1	chr12:106695259-106695888	GM12878	blood:	n/a	n/a
25	SP1	chr12:106695318-106697458	A549	lung:	n/a	chr12:106697203-106697216 chr12:106696228-106696240 chr12:106696229-106696243 chr12:106696291-106696303 chr12:106696229-106696238 chr12:106697247-106697256 chr12:106696291-106696303 chr12:106696229-106696239 chr12:106697070-106697084 chr12:106696228-106696240 chr12:106696925-106696939 chr12:106697246-106697258 chr12:106697199-106697211 chr12:106696292-106696302 chr12:106696229-106696238 chr12:106696292-106696301 chr12:106696292-106696301 chr12:106696292-106696302 chr12:106696230-106696239 chr12:106697118-106697132 chr12:106697200-106697214 chr12:106696229-106696239 chr12:106697199-106697210 chr12:106697248-106697257 chr12:106697243-106697257 chr12:106696293-106696302 chr12:106697201-106697210 chr12:106697246-106697258
26	SP1	chr12:106695222-106697356	A549	lung:	n/a	chr12:106697203-106697216 chr12:106696228-106696240 chr12:106696229-106696243 chr12:106696291-106696303 chr12:106696229-106696238 chr12:106697247-106697256 chr12:106696291-106696303 chr12:106696229-106696239 chr12:106697070-106697084 chr12:106696228-106696240 chr12:106696925-106696939 chr12:106697246-106697258 chr12:106697199-106697211 chr12:106696292-106696302 chr12:106696229-106696238 chr12:106696292-106696301 chr12:106696292-106696301 chr12:106696292-106696302 chr12:106696230-106696239 chr12:106697118-106697132 chr12:106697200-106697214 chr12:106696229-106696239 chr12:106697199-106697210 chr12:106697248-106697257 chr12:106697243-106697257 chr12:106696293-106696302 chr12:106697201-106697210 chr12:106697246-106697258
27	POLR2A	chr12:106695354-106695616	HepG2	liver:	n/a	n/a
28	IRF1	chr12:106695164-106695917	K562	blood:	n/a	n/a
29	PML	chr12:106695293-106696065	K562	blood:	n/a	n/a
30	POLR2A	chr12:106695337-106698372	HUVEC	blood vessel:	n/a	n/a
31	TCF12	chr12:106695163-106696086	A549	lung:	n/a	chr12:106695495-106695502
32	TBL1XR1	chr12:106695212-106696003	K562	blood:	n/a	n/a
33	MXI1	chr12:106694917-106697676	IMR90	lung:	n/a	n/a
34	FOXA2	chr12:106695080-106696096	HepG2	liver:	n/a	n/a
35	GATA1	chr12:106694718-106696081	K562	blood:	n/a	n/a
36	FOSL2	chr12:106695298-106695921	A549	lung:	n/a	n/a
37	FOXA2	chr12:106695305-106696070	A549	lung:	n/a	n/a
38	TAL1	chr12:106695351-106696070	K562	blood:	n/a	n/a
39	POLR2A	chr12:106695054-106698508	IMR90	lung:	n/a	n/a
40	POLR2A	chr12:106695237-106696017	Hela-S3	cervix:	n/a	n/a
41	RCOR1	chr12:106695288-106696003	K562	blood:	n/a	n/a
42	STAT5A	chr12:106695323-106696012	K562	blood:	n/a	n/a
43	FOXA2	chr12:106695308-106696087	A549	lung:	n/a	n/a
44	CEBPB	chr12:106695317-106695969	K562	blood:	n/a	n/a
45	BHLHE40	chr12:106695200-106697453	GM12878	blood:	n/a	chr12:106696295-106696311 chr12:106695968-106695984
46	STAT1	chr12:106695305-106695662	GM12878	blood:	n/a	n/a
47	GATA1	chr12:106694402-106696053	PBDE	blood:	n/a	chr12:106694528-106694535 chr12:106694528-106694535 chr12:106694521-106694542 chr12:106694527-106694537 chr12:106694528-106694535
48	MAX	chr12:106695313-106696074	A549	lung:	n/a	n/a
49	MAZ	chr12:106694985-106697657	IMR90	lung:	n/a	n/a
50	CBX3	chr12:106695314-106696047	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:106693946..106698218-chr12:106750404..106754111,7	MCF-7	breast:
2	chr12:106639346..106644112-chr12:106694122..106698214,13	MCF-7	breast:
3	chr12:106693434..106696954-chr12:106697519..106701215,4	MCF-7	breast:
4	chr12:106694726..106698780-chr12:106749876..106753760,9	K562	blood:
5	chr12:106640063..106644049-chr12:106694395..106698756,11	MCF-7	breast:

Variant related genes	Relation type
TCP11L2	TF binding region
ENSG00000258355	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000013503	Chromatin interaction
ENSG00000166046	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10507210	0.81[JPT][hapmap]
rs10746057	0.81[JPT][hapmap]
rs10778460	0.81[JPT][hapmap]
rs10861566	0.81[JPT][hapmap]
rs10861567	0.81[JPT][hapmap]
rs10861569	0.81[JPT][hapmap]
rs11112924	0.81[JPT][hapmap]
rs11112928	0.81[JPT][hapmap]
rs1148408	0.81[JPT][hapmap]
rs1148409	0.81[JPT][hapmap]
rs1215808	0.81[JPT][hapmap]
rs12823006	0.81[JPT][hapmap]
rs2047545	0.81[JPT][hapmap]
rs7304941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.86[MEX][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308143	0.81[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794382	chr12:106679812-106699151	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2279760	MYBPH	trans	brain	seeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106689000-106695800	Weak transcription	Lung	lung
2	chr12:106690200-106695400	Weak transcription	NHLF	lung
3	chr12:106690600-106695400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:106690800-106695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:106690800-106695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:106691800-106695400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:106693000-106695400	Enhancers	Left Ventricle	heart
8	chr12:106693000-106695400	Enhancers	K562	blood
9	chr12:106693200-106695400	Weak transcription	Colonic Mucosa	Colon
10	chr12:106693400-106695400	Weak transcription	Psoas Muscle	Psoas
11	chr12:106693400-106695800	Weak transcription	Gastric	stomach
12	chr12:106693400-106695800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:106694000-106695400	Enhancers	Brain Hippocampus Middle	brain
14	chr12:106694200-106695400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:106694200-106695400	Weak transcription	Placenta	Placenta
16	chr12:106694200-106695400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:106694400-106695400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:106694400-106695600	Enhancers	Primary hematopoietic stem cells	blood
19	chr12:106694400-106695800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:106694600-106695400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:106694600-106695400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:106694600-106695400	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:106694600-106695400	Enhancers	Primary T cells from cord blood	blood
24	chr12:106694600-106695400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:106694600-106695400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:106694600-106695400	Enhancers	Brain Angular Gyrus	brain
27	chr12:106694600-106695400	Enhancers	Brain Anterior Caudate	brain
28	chr12:106694600-106695400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr12:106694600-106695400	Enhancers	Brain Substantia Nigra	brain
30	chr12:106694600-106695400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr12:106694600-106695400	Enhancers	HSMM	muscle
32	chr12:106694600-106695400	Enhancers	HUVEC	blood vessel
33	chr12:106694600-106695400	Enhancers	NHEK	skin
34	chr12:106694600-106695600	Enhancers	Fetal Muscle Leg	muscle
35	chr12:106694600-106695800	Enhancers	Fetal Heart	heart
36	chr12:106694600-106696000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr12:106694800-106695400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr12:106694800-106695400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:106694800-106695400	Enhancers	Colon Smooth Muscle	Colon
40	chr12:106694800-106695800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr12:106695000-106695400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:106695000-106695400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr12:106695000-106695400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr12:106695000-106695400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:106695000-106695400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:106695000-106695400	Enhancers	Fetal Intestine Large	intestine
47	chr12:106695000-106695400	Enhancers	Dnd41	blood
48	chr12:106695000-106695600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr12:106695000-106695600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:106695000-106695600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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