Variant report

Variant	rs11065215
Chromosome Location	chr12:121130346-121130347
allele	A/C
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	FOXA2	chr12:121130204-121130500	HepG2	liver:	n/a	chr12:121130357-121130369
2	BCL3	chr12:121129956-121131200	A549	lung:	n/a	chr12:121130107-121130116
3	FOXA1	chr12:121130127-121130577	HepG2	liver:	n/a	chr12:121130357-121130369
4	NR2F2	chr12:121130143-121130736	MCF-7	breast:	n/a	n/a
5	SP1	chr12:121129846-121130842	A549	lung:	n/a	n/a
6	GATA3	chr12:121130180-121130732	SK-N-SH	brain:	n/a	n/a
7	SIN3AK20	chr12:121130205-121130524	HepG2	liver:	n/a	n/a
8	FOXA1	chr12:121130143-121130654	HepG2	liver:	n/a	chr12:121130357-121130369
9	BCL3	chr12:121130083-121130821	A549	lung:	n/a	chr12:121130107-121130116
10	SIN3AK20	chr12:121130311-121130481	PFSK-1	brain:	n/a	n/a
11	NFIC	chr12:121130110-121130626	HepG2	liver:	n/a	n/a
12	GATA3	chr12:121129900-121131147	A549	lung:	n/a	n/a
13	FOSL2	chr12:121130184-121130639	A549	lung:	n/a	n/a
14	ARID3A	chr12:121130248-121130606	HepG2	liver:	n/a	n/a
15	MXI1	chr12:121130194-121130660	HepG2	liver:	n/a	n/a
16	NR2F2	chr12:121130074-121130710	HepG2	liver:	n/a	n/a
17	TCF12	chr12:121130121-121130680	A549	lung:	n/a	n/a
18	ATF3	chr12:121129986-121130724	A549	lung:	n/a	n/a
19	MXI1	chr12:121130246-121130496	GM12878	blood:	n/a	n/a
20	EP300	chr12:121129878-121130892	A549	lung:	n/a	chr12:121130360-121130370
21	USF1	chr12:121130155-121130996	A549	lung:	n/a	n/a
22	SP1	chr12:121130110-121130570	HepG2	liver:	n/a	n/a
23	FOXA1	chr12:121130082-121130599	HepG2	liver:	n/a	chr12:121130357-121130369
24	JUND	chr12:121130258-121130595	A549	lung:	n/a	n/a
25	EP300	chr12:121130063-121130555	HepG2	liver:	n/a	chr12:121130360-121130370
26	USF1	chr12:121130211-121130692	A549	lung:	n/a	n/a
27	GATA3	chr12:121130129-121130782	MCF-7	breast:	n/a	n/a
28	MAX	chr12:121130079-121130853	A549	lung:	n/a	chr12:121130523-121130534 chr12:121130523-121130534
29	JUND	chr12:121130278-121130581	HepG2	liver:	n/a	n/a
30	FOXA1	chr12:121130253-121130654	HepG2	liver:	n/a	chr12:121130357-121130369
31	FOSL2	chr12:121130012-121130858	A549	lung:	n/a	n/a
32	FOXA2	chr12:121130324-121130901	A549	lung:	n/a	chr12:121130357-121130369
33	GABPA	chr12:121130128-121130734	A549	lung:	n/a	n/a
34	ZNF263	chr12:121130063-121131055	HEK293-T-REx	kidney:	n/a	n/a
35	EP300	chr12:121129887-121130857	A549	lung:	n/a	chr12:121130360-121130370
36	KAP1	chr12:121130054-121131073	U2OS	brain:	n/a	n/a
37	SIN3AK20	chr12:121129940-121130769	A549	lung:	n/a	n/a
38	GATA3	chr12:121130067-121130762	A549	lung:	n/a	n/a
39	JUND	chr12:121130227-121130664	A549	lung:	n/a	n/a
40	USF1	chr12:121130269-121130695	A549	lung:	n/a	n/a
41	SIN3AK20	chr12:121130312-121130577	PFSK-1	brain:	n/a	n/a
42	STAT3	chr12:121130287-121130356	MCF10A-Er-Src	breast:	n/a	n/a
43	EP300	chr12:121130059-121130598	HepG2	liver:	n/a	chr12:121130360-121130370
44	BHLHE40	chr12:121130182-121130382	HepG2	liver:	n/a	n/a
45	FOSL2	chr12:121130193-121130595	HepG2	liver:	n/a	n/a
46	TCF12	chr12:121129857-121130992	A549	lung:	n/a	n/a
47	MAX	chr12:121130291-121130612	A549	lung:	n/a	chr12:121130523-121130534 chr12:121130523-121130534
48	RXRA	chr12:121130140-121130564	HepG2	liver:	n/a	chr12:121130373-121130386 chr12:121130373-121130386 chr12:121130374-121130385 chr12:121130288-121130297
49	GATA3	chr12:121130054-121130773	SK-N-SH	brain:	n/a	n/a
50	ETS1	chr12:121130187-121130681	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121127233..121131774-chr12:121146015..121149455,5	MCF-7	breast:
2	chr12:121092373..121094051-chr12:121128187..121130355,2	MCF-7	breast:
3	chr12:121128598..121131378-chr12:121142040..121143642,2	K562	blood:
4	chr12:121128710..121131143-chr12:121131360..121132906,2	MCF-7	breast:

Variant related genes	Relation type
MLEC	TF binding region
ENSG00000175970	Chromatin interaction
ENSG00000157782	Chromatin interaction
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10431372	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774565	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs10849774	0.86[EUR][1000 genomes]
rs10849780	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849781	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065184	0.86[EUR][1000 genomes]
rs11065186	0.86[EUR][1000 genomes]
rs11065188	0.86[EUR][1000 genomes]
rs11065189	0.86[EUR][1000 genomes]
rs11065191	0.86[EUR][1000 genomes]
rs11065192	0.86[EUR][1000 genomes]
rs11065193	0.86[EUR][1000 genomes]
rs11065194	0.81[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes]
rs11065195	1.00[EUR][1000 genomes]
rs11065196	1.00[EUR][1000 genomes]
rs11065197	0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs11065198	1.00[EUR][1000 genomes]
rs11065199	1.00[EUR][1000 genomes]
rs11065204	1.00[EUR][1000 genomes]
rs11065205	1.00[EUR][1000 genomes]
rs11065214	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065221	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065224	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065229	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065234	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065235	0.81[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065238	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065240	0.82[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065241	0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs11065242	0.81[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065243	0.84[ASN][1000 genomes]
rs11065244	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065245	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065246	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065262	0.83[EUR][1000 genomes]
rs12228118	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12228187	0.86[EUR][1000 genomes]
rs12229164	1.00[EUR][1000 genomes]
rs12229181	1.00[EUR][1000 genomes]
rs12231101	0.86[EUR][1000 genomes]
rs12231499	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12310160	0.82[CHB][hapmap]
rs17848090	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2071266	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2229534	0.80[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2239687	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2239757	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2239759	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3751166	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809310	0.86[EUR][1000 genomes]
rs3809311	0.86[EUR][1000 genomes]
rs7302002	1.00[EUR][1000 genomes]
rs7973568	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121126200-121130400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:121126800-121131000	Enhancers	Placenta	Placenta
3	chr12:121127000-121131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121127200-121131000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:121127400-121130800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:121127400-121131000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:121127400-121131800	Weak transcription	Fetal Brain Female	brain
8	chr12:121127600-121130400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:121127600-121130400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:121127600-121130400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:121127600-121130400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:121127600-121130600	Enhancers	Fetal Lung	lung
13	chr12:121127600-121130600	Enhancers	Psoas Muscle	Psoas
14	chr12:121127600-121130800	Enhancers	Left Ventricle	heart
15	chr12:121127600-121131000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:121127600-121131000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:121127600-121131000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:121127600-121131000	Weak transcription	Aorta	Aorta
19	chr12:121127600-121131000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:121127600-121131000	Enhancers	HepG2	liver
21	chr12:121127600-121131600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:121127600-121131600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:121127600-121131600	Enhancers	Adipose Nuclei	Adipose
24	chr12:121127600-121132000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:121127600-121132000	Weak transcription	Esophagus	oesophagus
26	chr12:121127600-121132000	Weak transcription	HSMM	muscle
27	chr12:121127600-121132600	Weak transcription	Fetal Brain Male	brain
28	chr12:121127600-121147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:121127800-121130600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:121127800-121130600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:121127800-121130800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:121127800-121130800	Weak transcription	Osteobl	bone
33	chr12:121127800-121131000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:121127800-121131000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:121127800-121131400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:121127800-121131400	Weak transcription	Brain Germinal Matrix	brain
37	chr12:121127800-121131600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:121127800-121131800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr12:121127800-121132000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:121127800-121132000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:121127800-121132000	Weak transcription	HMEC	breast
42	chr12:121127800-121132000	Weak transcription	HSMMtube	muscle
43	chr12:121127800-121132200	Weak transcription	NH-A	brain
44	chr12:121127800-121135000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:121128000-121130400	Weak transcription	Primary B cells from cord blood	blood
46	chr12:121128000-121130600	Enhancers	Fetal Intestine Large	intestine
47	chr12:121128000-121130600	Weak transcription	Fetal Stomach	stomach
48	chr12:121128000-121131600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:121128000-121131600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:121128200-121130400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links