Variant report

Variant	rs544585368
Chromosome Location	chr12:104532506-104532507
allele	C/T
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	MXI1	chr12:104532310-104532535	K562	blood:	n/a	chr12:104532334-104532343
2	MAX	chr12:104531593-104532728	HepG2	liver:	n/a	n/a
3	MAX	chr12:104531801-104532570	GM12878	blood:	n/a	n/a
4	ZBTB7A	chr12:104531903-104532545	K562	blood:	n/a	chr12:104532536-104532545
5	EP300	chr12:104531530-104532558	SK-N-SH	brain:	n/a	chr12:104531582-104531598 chr12:104532225-104532241
6	POLR2A	chr12:104530398-104532806	MCF10A-Er-Src	breast:	n/a	n/a
7	MAX	chr12:104531718-104532771	NB4	blood:	n/a	n/a
8	POLR2A	chr12:104531499-104532554	HUVEC	blood vessel:	n/a	n/a
9	E2F6	chr12:104531600-104532908	K562	blood:	n/a	n/a
10	E2F6	chr12:104531727-104532641	A549	lung:	n/a	n/a
11	CHD2	chr12:104531768-104532683	K562	blood:	n/a	n/a
12	MYC	chr12:104531897-104532581	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr12:104531643-104532638	K562	blood:	n/a	n/a
14	E2F4	chr12:104531431-104532511	K562	blood:	n/a	n/a
15	MAX	chr12:104531831-104532574	K562	blood:	n/a	n/a
16	TAF1	chr12:104531698-104532854	H1-neurons	neurons:	n/a	n/a
17	MAX	chr12:104531698-104532672	HCT-116	colon:	n/a	n/a
18	MYC	chr12:104531748-104532596	K562	blood:	n/a	n/a
19	HCFC1	chr12:104530774-104533047	Hela-S3	cervix:	n/a	n/a
20	MXI1	chr12:104530363-104533203	SK-N-SH	brain:	n/a	chr12:104532334-104532343
21	POLR2A	chr12:104532085-104532537	PANC-1	pancreas:	n/a	n/a
22	TCF12	chr12:104531721-104532523	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr12:104530247-104532671	PFSK-1	brain:	n/a	n/a
24	MAX	chr12:104531621-104532602	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr12:104531595-104532535	U87	brain:	n/a	n/a
26	MAX	chr12:104531709-104532710	H1-hESC	embryonic stem cell:	n/a	n/a
27	E2F6	chr12:104531428-104532565	Hela-S3	cervix:	n/a	n/a
28	MAX	chr12:104531700-104532628	K562	blood:	n/a	n/a
29	MAX	chr12:104531673-104532613	SK-N-SH	brain:	n/a	n/a
30	MAX	chr12:104531656-104532862	A549	lung:	n/a	n/a
31	E2F6	chr12:104531819-104532596	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAZ	chr12:104531035-104532616	K562	blood:	n/a	chr12:104531092-104531102
33	POLR2A	chr12:104531499-104532532	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr12:104532360-104532510	A549	lung:	n/a	n/a
35	ELF1	chr12:104531654-104532539	GM12878	blood:	n/a	n/a
36	MAX	chr12:104531586-104532842	HCT-116	colon:	n/a	n/a
37	POLR2A	chr12:104531702-104532518	PFSK-1	brain:	n/a	n/a
38	MAX	chr12:104531039-104532779	K562	blood:	n/a	chr12:104531092-104531102
39	MAX	chr12:104531639-104532688	SK-N-SH	brain:	n/a	n/a
40	REST	chr12:104530278-104533127	H1-neurons	neurons:	n/a	chr12:104532401-104532410 chr12:104531530-104531543 chr12:104531555-104531568 chr12:104532262-104532276 chr12:104532534-104532541 chr12:104532349-104532367 chr12:104532525-104532538 chr12:104532268-104532281 chr12:104531276-104531289
41	REST	chr12:104531678-104532558	A549	lung:	n/a	chr12:104532401-104532410 chr12:104532262-104532276 chr12:104532534-104532541 chr12:104532349-104532367 chr12:104532525-104532538 chr12:104532268-104532281
42	CBX3	chr12:104531739-104532735	K562	blood:	n/a	n/a
43	EP300	chr12:104531541-104532547	ECC-1	luminal epithelium:	n/a	chr12:104531582-104531598 chr12:104532225-104532241
44	E2F6	chr12:104531664-104532796	A549	lung:	n/a	n/a
45	POLR2A	chr12:104530332-104533046	H1-hESC	embryonic stem cell:	n/a	n/a
46	HMGN3	chr12:104531010-104532561	K562	blood:	n/a	n/a
47	CTCF	chr12:104532420-104532570	HRPEpiC	eye:	n/a	n/a
48	MAX	chr12:104531710-104532714	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr12:104531788-104532527	HepG2	liver:	n/a	n/a
50	RFX5	chr12:104531515-104533035	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104530782..104534411-chr12:104679881..104682289,3	K562	blood:
2	chr12:104358049..104359986-chr12:104530882..104532737,3	K562	blood:
3	chr12:104456193..104459744-chr12:104529847..104533076,6	K562	blood:
4	chr12:104531440..104533678-chr17:57914653..57916695,2	MCF-7	breast:
5	chr12:104348297..104351124-chr12:104530392..104533056,3	MCF-7	breast:
6	chr12:104529986..104533486-chr12:104678703..104682517,5	MCF-7	breast:
7	chr12:104510515..104519727-chr12:104525085..104533754,15	MCF-7	breast:
8	chr12:104234047..104236214-chr12:104531313..104532962,2	MCF-7	breast:
9	chr12:104456335..104459744-chr12:104529847..104533076,5	K562	blood:
10	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
11	chr12:104530438..104533662-chr12:104564030..104567253,5	K562	blood:
12	chr12:104530514..104533012-chr12:104679009..104681675,2	K562	blood:
13	chr12:104490343..104492832-chr12:104530682..104533569,2	MCF-7	breast:
14	chr12:104530672..104533179-chr6:154830934..154833113,2	MCF-7	breast:
15	chr12:104532395..104534218-chr12:104535636..104537137,2	K562	blood:
16	chr12:104530429..104534144-chr12:104679811..104684673,6	MCF-7	breast:
17	chr12:104455182..104458865-chr12:104529769..104532559,3	MCF-7	breast:
18	chr12:104357850..104359549-chr12:104531019..104533949,2	K562	blood:

Variant related genes	Relation type
NFYB	TF binding region
ENSG00000199415	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000257193	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000153721	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823607	chr12:104506318-104549541	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
2	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
4	esv3378083	chr12:104530222-104533220	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
5	esv3356986	chr12:104530722-104533070	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
6	esv1822830	chr12:104531180-104535862	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
7	esv1851658	chr12:104531180-104535862	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
8	esv1836100	chr12:104531180-104558476	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
9	esv1836581	chr12:104531180-104558476	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
10	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104530000-104532800	Active TSS	Aorta	Aorta
2	chr12:104530200-104532800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:104530200-104533200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:104530400-104532600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:104530400-104532800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:104530400-104533000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:104530600-104532600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:104530600-104532600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr12:104530600-104532600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104530600-104532800	Active TSS	Psoas Muscle	Psoas
11	chr12:104530800-104532600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr12:104530800-104532600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:104530800-104532600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:104530800-104532600	Active TSS	Fetal Kidney	kidney
15	chr12:104530800-104532600	Active TSS	Ovary	ovary
16	chr12:104530800-104532800	Active TSS	Brain Germinal Matrix	brain
17	chr12:104531000-104532600	Active TSS	Brain Cingulate Gyrus	brain
18	chr12:104531000-104532600	Active TSS	Fetal Brain Female	brain
19	chr12:104531000-104532600	Active TSS	Fetal Lung	lung
20	chr12:104531200-104532600	Active TSS	Brain Substantia Nigra	brain
21	chr12:104531200-104533000	Active TSS	Brain Angular Gyrus	brain
22	chr12:104532200-104532600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:104532200-104532600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:104532200-104532600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr12:104532200-104532600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr12:104532200-104532600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr12:104532200-104532600	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr12:104532200-104532600	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr12:104532200-104532600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr12:104532200-104532600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr12:104532200-104532600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:104532200-104532600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:104532200-104532600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr12:104532200-104532600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:104532200-104532600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:104532200-104532600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:104532200-104532600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:104532200-104532600	Flanking Active TSS	Liver	Liver
39	chr12:104532200-104532600	Flanking Active TSS	Colonic Mucosa	Colon
40	chr12:104532200-104532600	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr12:104532200-104532600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr12:104532200-104532600	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr12:104532200-104532600	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr12:104532200-104532600	Flanking Active TSS	Fetal Thymus	thymus
45	chr12:104532200-104532600	Transcr. at gene 5' and 3'	Right Atrium	heart
46	chr12:104532200-104532600	Flanking Active TSS	Right Ventricle	heart
47	chr12:104532200-104532600	Flanking Active TSS	Thymus	Thymus
48	chr12:104532200-104532600	Flanking Active TSS	HepG2	liver
49	chr12:104532200-104532600	Flanking Active TSS	HMEC	breast
50	chr12:104532200-104532600	Flanking Active TSS	HUVEC	blood vessel

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