Variant report

Variant	rs73057567
Chromosome Location	chr12:9826246-9826247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:132)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:132 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr12:9826121-9826712	MCF10A-Er-Src	breast:	n/a	chr12:9826536-9826547
2	BHLHE40	chr12:9826095-9826747	K562	blood:	n/a	n/a
3	SMC3	chr12:9826151-9826521	GM12878	blood:	n/a	n/a
4	UBTF	chr12:9826065-9826461	K562	blood:	n/a	n/a
5	NR2F2	chr12:9825970-9826580	MCF-7	breast:	n/a	n/a
6	ZNF263	chr12:9826157-9826789	HEK293-T-REx	kidney:	n/a	n/a
7	NR2F2	chr12:9825946-9826772	K562	blood:	n/a	n/a
8	POLR2A	chr12:9826065-9826385	GM12891	blood:	n/a	n/a
9	CHD2	chr12:9826035-9826745	GM12878	blood:	n/a	n/a
10	SP1	chr12:9826210-9826763	A549	lung:	n/a	n/a
11	MYC	chr12:9826112-9826672	K562	blood:	n/a	n/a
12	MAFK	chr12:9826200-9826567	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:9826233-9826710	SK-N-SH	brain:	n/a	n/a
14	STAT5A	chr12:9825984-9826704	K562	blood:	n/a	n/a
15	POLR2A	chr12:9825672-9827322	GM18951	blood:	n/a	n/a
16	POLR2A	chr12:9825909-9827311	GM12892	blood:	n/a	n/a
17	FOXM1	chr12:9826014-9827318	GM12878	blood:	n/a	n/a
18	BACH1	chr12:9826040-9826692	K562	blood:	n/a	n/a
19	FOSL2	chr12:9825995-9826739	SK-N-SH	brain:	n/a	n/a
20	REST	chr12:9826228-9826691	SK-N-SH	brain:	n/a	n/a
21	PBX3	chr12:9826200-9826837	SK-N-SH	brain:	n/a	n/a
22	FOSL2	chr12:9826108-9826789	A549	lung:	n/a	n/a
23	POLR2A	chr12:9826038-9827475	GM15510	blood:	n/a	n/a
24	POLR2A	chr12:9822858-9827605	GM12891	blood:	n/a	n/a
25	MTA3	chr12:9825386-9827372	GM12878	blood:	n/a	n/a
26	PAX5	chr12:9825948-9826784	GM12878	blood:	n/a	n/a
27	TBL1XR1	chr12:9826207-9826646	K562	blood:	n/a	n/a
28	IRF4	chr12:9826231-9826778	GM12878	blood:	n/a	n/a
29	PML	chr12:9826101-9826478	K562	blood:	n/a	n/a
30	YY1	chr12:9826067-9826736	GM12892	blood:	n/a	n/a
31	POLR2A	chr12:9826174-9826859	U87	brain:	n/a	n/a
32	CHD2	chr12:9826147-9826664	Hela-S3	cervix:	n/a	n/a
33	TEAD4	chr12:9825933-9826691	K562	blood:	n/a	n/a
34	ZMIZ1	chr12:9826087-9826710	K562	blood:	n/a	n/a
35	BCLAF1	chr12:9825980-9826744	GM12878	blood:	n/a	n/a
36	MAFK	chr12:9826063-9826699	K562	blood:	n/a	n/a
37	FOS	chr12:9826145-9826712	MCF10A-Er-Src	breast:	n/a	chr12:9826536-9826547
38	POLR2A	chr12:9825775-9827205	GM12892	blood:	n/a	n/a
39	REST	chr12:9826039-9826731	K562	blood:	n/a	n/a
40	EP300	chr12:9825982-9827123	K562	blood:	n/a	n/a
41	CEBPD	chr12:9826096-9826500	K562	blood:	n/a	n/a
42	MAFK	chr12:9826171-9826702	H1-hESC	embryonic stem cell:	n/a	n/a
43	FOSL2	chr12:9826195-9826777	SK-N-SH	brain:	n/a	n/a
44	EP300	chr12:9826000-9826910	SK-N-SH	brain:	n/a	n/a
45	NFIC	chr12:9825988-9826811	SK-N-SH	brain:	n/a	n/a
46	MAFK	chr12:9826117-9826722	IMR90	lung:	n/a	n/a
47	EP300	chr12:9826235-9826642	GM12878	blood:	n/a	n/a
48	ZNF143	chr12:9826240-9826669	K562	blood:	n/a	n/a
49	BACH1	chr12:9826116-9826716	H1-hESC	embryonic stem cell:	n/a	n/a
50	ELF1	chr12:9826144-9827208	GM12878	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9799292..9802850-chr12:9823422..9827161,3	MCF-7	breast:

No data

Variant related genes	Relation type
CLEC2D	TF binding region
ENSG00000256442	Chromatin interaction
ENSG00000256594	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73059569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9802400-9849800	Weak transcription	Pancreas	Pancrea
2	chr12:9807600-9847200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:9815000-9826400	Weak transcription	Fetal Intestine Small	intestine
4	chr12:9815200-9828400	Weak transcription	Liver	Liver
5	chr12:9815200-9840600	Weak transcription	Fetal Brain Male	brain
6	chr12:9815200-9841600	Weak transcription	Fetal Kidney	kidney
7	chr12:9815600-9833800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:9816200-9832600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:9816200-9840600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:9817200-9837800	Weak transcription	Aorta	Aorta
11	chr12:9817600-9826400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:9818000-9839200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:9818000-9839800	Weak transcription	Ovary	ovary
14	chr12:9818000-9840000	Weak transcription	Fetal Intestine Large	intestine
15	chr12:9818000-9849800	Weak transcription	Brain Germinal Matrix	brain
16	chr12:9818200-9826400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:9818200-9828600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:9818200-9840000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:9822400-9827200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:9823000-9829800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
21	chr12:9823600-9826600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:9824200-9827400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:9824200-9827800	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr12:9824200-9828200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
25	chr12:9824200-9828200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr12:9824400-9832600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:9824600-9827200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:9824600-9827200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
29	chr12:9824800-9827200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr12:9825200-9827200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr12:9825400-9827200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:9825400-9827200	Enhancers	Fetal Heart	heart
33	chr12:9825600-9826400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:9825600-9826400	Enhancers	NHEK	skin
35	chr12:9825600-9826400	Enhancers	Osteobl	bone
36	chr12:9825600-9826600	Enhancers	HepG2	liver
37	chr12:9825600-9826800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr12:9825600-9826800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:9825600-9827000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr12:9825600-9827200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:9825600-9827200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:9825600-9827200	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
43	chr12:9825600-9827200	Enhancers	Primary hematopoietic stem cells	blood
44	chr12:9825600-9827200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:9825600-9827400	Enhancers	HMEC	breast
46	chr12:9825600-9827600	Flanking Active TSS	GM12878-XiMat	blood
47	chr12:9825800-9826400	Flanking Active TSS	Thymus	Thymus
48	chr12:9825800-9826600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
49	chr12:9825800-9826800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr12:9825800-9826800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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