Variant report

Variant	rs12322495
Chromosome Location	chr12:58292811-58292812
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	CUX1	chr12:58292739-58293565	GM12878	blood:	n/a	n/a
2	RUNX3	chr12:58292084-58293685	GM12878	blood:	n/a	chr12:58293361-58293370 chr12:58293361-58293370
3	SP1	chr12:58292653-58293452	GM12878	blood:	n/a	n/a
4	STAT3	chr12:58292296-58293686	GM12878	blood:	n/a	chr12:58293210-58293218 chr12:58292527-58292534 chr12:58292794-58292801 chr12:58293174-58293186
5	FOS	chr12:58292318-58293145	MCF10A-Er-Src	breast:	n/a	chr12:58292952-58292963 chr12:58292551-58292560 chr12:58292871-58292879
6	POU2F2	chr12:58292701-58293389	GM12891	blood:	n/a	n/a
7	RAD21	chr12:58292793-58293067	IMR90	lung:	n/a	n/a
8	GATA3	chr12:58292583-58293728	SK-N-SH	brain:	n/a	chr12:58292989-58292999
9	FOXM1	chr12:58292337-58293623	GM12878	blood:	n/a	n/a
10	MAZ	chr12:58292732-58293081	Hela-S3	cervix:	n/a	n/a
11	FOXM1	chr12:58292116-58293576	GM12878	blood:	n/a	n/a
12	PAX5	chr12:58292777-58293354	GM12878	blood:	n/a	n/a
13	RUNX3	chr12:58292172-58293609	GM12878	blood:	n/a	chr12:58293361-58293370 chr12:58293361-58293370
14	TCF12	chr12:58292798-58293370	GM12878	blood:	n/a	n/a
15	SMC3	chr12:58292281-58293416	GM12878	blood:	n/a	n/a
16	MAZ	chr12:58292520-58293570	GM12878	blood:	n/a	chr12:58292726-58292737
17	ATF2	chr12:58292429-58293473	GM12878	blood:	n/a	n/a
18	RELA	chr12:58292076-58293432	GM15510	blood:	n/a	chr12:58292929-58292938 chr12:58292929-58292938
19	RELA	chr12:58292146-58293659	GM19193	blood:	n/a	chr12:58292929-58292938 chr12:58292929-58292938
20	POLR2A	chr12:58292786-58293318	GM12878	blood:	n/a	n/a
21	MTA3	chr12:58292006-58293510	GM12878	blood:	n/a	n/a
22	MAZ	chr12:58292633-58293511	IMR90	lung:	n/a	chr12:58292726-58292737
23	NFIC	chr12:58292026-58293669	GM12878	blood:	n/a	n/a
24	TBL1XR1	chr12:58292095-58293635	GM12878	blood:	n/a	n/a
25	BATF	chr12:58292706-58293069	GM12878	blood:	n/a	chr12:58292868-58292878
26	ATF2	chr12:58292128-58293615	GM12878	blood:	n/a	n/a
27	ELF1	chr12:58292683-58293270	GM12878	blood:	n/a	n/a
28	RELA	chr12:58292115-58293516	GM12892	blood:	n/a	chr12:58292929-58292938 chr12:58292929-58292938
29	IRF4	chr12:58292631-58293477	GM12878	blood:	n/a	n/a
30	MXI1	chr12:58292285-58293420	GM12878	blood:	n/a	n/a
31	ETS1	chr12:58292760-58293432	GM12878	blood:	n/a	n/a
32	STAT5A	chr12:58292337-58293481	GM12878	blood:	n/a	chr12:58293210-58293218 chr12:58292527-58292534 chr12:58292794-58292801 chr12:58293174-58293186
33	TCF12	chr12:58292753-58293318	GM12878	blood:	n/a	n/a
34	WRNIP1	chr12:58292761-58293368	GM12878	blood:	n/a	n/a
35	NFIC	chr12:58292085-58293522	GM12878	blood:	n/a	n/a
36	FOS	chr12:58292692-58293209	MCF10A-Er-Src	breast:	n/a	chr12:58292952-58292963 chr12:58293139-58293146 chr12:58292871-58292879
37	TCF12	chr12:58292583-58293544	SK-N-SH	brain:	n/a	n/a
38	NFATC1	chr12:58292412-58293539	GM12878	blood:	n/a	n/a
39	MTA3	chr12:58291922-58293581	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:58292751-58293461	Raji	blood:	n/a	n/a
41	PAX5	chr12:58292730-58292997	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:58292684-58293452	GM12892	blood:	n/a	n/a
43	SP1	chr12:58292663-58293445	GM12878	blood:	n/a	n/a
44	EP300	chr12:58292743-58293346	GM12878	blood:	n/a	chr12:58292987-58293001 chr12:58293306-58293315
45	POLR2A	chr12:58292714-58293316	GM12891	blood:	n/a	n/a
46	EP300	chr12:58292174-58293503	GM12878	blood:	n/a	chr12:58292987-58293001 chr12:58293306-58293315
47	ELF1	chr12:58292793-58293405	GM12878	blood:	n/a	n/a
48	BHLHE40	chr12:58292259-58293717	GM12878	blood:	n/a	n/a
49	TBP	chr12:58292530-58293740	GM12878	blood:	n/a	n/a
50	EBF1	chr12:58292372-58293684	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:58238331..58240066-chr12:58291999..58293854,2	K562	blood:
2	chr12:58143079..58147361-chr12:58290608..58293518,3	K562	blood:
3	chr12:58265896..58267925-chr12:58291113..58293138,2	K562	blood:
4	chr12:58236711..58242486-chr12:58286970..58293951,15	MCF-7	breast:
5	chr12:58257328..58259688-chr12:58290813..58293614,3	MCF-7	breast:
6	chr12:58289871..58291670-chr12:58291918..58293741,2	K562	blood:

Variant related genes	Relation type
ENSG00000245651	TF binding region
ENSG00000245651	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000135446	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11172376	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11172377	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11834260	0.95[ASN][1000 genomes]
rs12296922	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309291	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12322586	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119981	0.95[ASN][1000 genomes]
rs17119991	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34241380	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34372362	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35441007	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35985500	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61935768	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58288200-58293200	Enhancers	Spleen	Spleen
2	chr12:58289200-58293400	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr12:58290200-58293800	Flanking Active TSS	GM12878-XiMat	blood
4	chr12:58290600-58293000	Weak transcription	Gastric	stomach
5	chr12:58290600-58293800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:58290600-58293800	Enhancers	HMEC	breast
7	chr12:58290800-58293400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:58290800-58293800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:58290800-58294200	Enhancers	Primary B cells from cord blood	blood
10	chr12:58290800-58294200	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:58290800-58294200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:58291000-58293000	Enhancers	HSMMtube	muscle
13	chr12:58291000-58293200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:58291000-58293200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:58291000-58293200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:58291000-58293200	Enhancers	Fetal Muscle Trunk	muscle
17	chr12:58291000-58293200	Enhancers	Lung	lung
18	chr12:58291000-58293200	Enhancers	Psoas Muscle	Psoas
19	chr12:58291000-58293200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr12:58291000-58293200	Enhancers	HSMM	muscle
21	chr12:58291000-58293400	Enhancers	Aorta	Aorta
22	chr12:58291000-58293400	Enhancers	Esophagus	oesophagus
23	chr12:58291000-58293400	Enhancers	Left Ventricle	heart
24	chr12:58291000-58293400	Enhancers	K562	blood
25	chr12:58291000-58294000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:58291000-58294000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:58291000-58294000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr12:58291000-58294200	Enhancers	Fetal Thymus	thymus
29	chr12:58291000-58294400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:58291000-58294400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr12:58291200-58293000	Enhancers	Fetal Intestine Small	intestine
32	chr12:58291200-58293000	Enhancers	Stomach Mucosa	stomach
33	chr12:58291200-58293200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:58291200-58293200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:58291200-58293200	Enhancers	Fetal Muscle Leg	muscle
36	chr12:58291200-58293200	Enhancers	Placenta	Placenta
37	chr12:58291200-58293200	Enhancers	Ovary	ovary
38	chr12:58291200-58293200	Enhancers	Right Atrium	heart
39	chr12:58291200-58293200	Enhancers	Right Ventricle	heart
40	chr12:58291200-58293400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:58291200-58293400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr12:58291200-58293400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:58291200-58293400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:58291200-58293400	Enhancers	Fetal Stomach	stomach
45	chr12:58291200-58293400	Enhancers	HUVEC	blood vessel
46	chr12:58291200-58293400	Enhancers	NHLF	lung
47	chr12:58291200-58293400	Enhancers	Osteobl	bone
48	chr12:58291200-58293800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:58291200-58293800	Enhancers	Primary T cells from cord blood	blood
50	chr12:58291200-58294000	Enhancers	Primary hematopoietic stem cells	blood

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