Variant report

Variant	rs63680463
Chromosome Location	chr12:58148721-58148722
allele	-/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	POLR2A	chr12:58148519-58148762	HepG2	liver:	n/a	n/a
2	MYC	chr12:58148455-58148744	MCF10A-Er-Src	breast:	n/a	n/a
3	ELF1	chr12:58148483-58149066	GM12878	blood:	n/a	chr12:58148711-58148723
4	MAX	chr12:58148242-58148861	K562	blood:	n/a	n/a
5	ZBTB7A	chr12:58148549-58148788	K562	blood:	n/a	n/a
6	POLR2A	chr12:58148160-58148790	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:58148359-58148827	MCF-7	breast:	n/a	n/a
8	POLR2A	chr12:58148048-58149108	H1-neurons	neurons:	n/a	n/a
9	JUND	chr12:58148167-58148778	K562	blood:	n/a	n/a
10	MAZ	chr12:58148592-58149023	HepG2	liver:	n/a	n/a
11	CHD2	chr12:58148171-58148765	H1-hESC	embryonic stem cell:	n/a	n/a
12	YY1	chr12:58148522-58148989	HCT-116	colon:	n/a	chr12:58148739-58148750 chr12:58148887-58148897
13	ZBTB7A	chr12:58148328-58150191	ECC-1	luminal epithelium:	n/a	chr12:58149222-58149231 chr12:58149015-58149023
14	CEBPD	chr12:58148690-58149040	HepG2	liver:	n/a	n/a
15	RCOR1	chr12:58148149-58148743	Hela-S3	cervix:	n/a	n/a
16	FOXA1	chr12:58148434-58148785	T-47D	breast:	n/a	n/a
17	POLR2A	chr12:58148308-58149037	SK-N-MC	brain:	n/a	n/a
18	MAZ	chr12:58148352-58149685	IMR90	lung:	n/a	chr12:58149254-58149264
19	POLR2A	chr12:58148273-58149091	Raji	blood:	n/a	n/a
20	YY1	chr12:58148694-58149062	GM12892	blood:	n/a	chr12:58148739-58148750 chr12:58149012-58149026 chr12:58148887-58148897
21	MAX	chr12:58148128-58149095	ECC-1	luminal epithelium:	n/a	n/a
22	EBF1	chr12:58148557-58148750	GM12878	blood:	n/a	chr12:58148714-58148725
23	ZEB1	chr12:58148469-58149060	GM12878	blood:	n/a	n/a
24	REST	chr12:58148027-58149365	H1-neurons	neurons:	n/a	chr12:58149045-58149055 chr12:58148029-58148038 chr12:58148716-58148729 chr12:58148719-58148732 chr12:58149019-58149032
25	MAZ	chr12:58148241-58149884	K562	blood:	n/a	chr12:58149254-58149264
26	MYC	chr12:58148559-58148806	MCF-7	breast:	n/a	n/a
27	YY1	chr12:58148433-58149073	ECC-1	luminal epithelium:	n/a	chr12:58148739-58148750 chr12:58149012-58149026 chr12:58148887-58148897
28	MYC	chr12:58148125-58148792	K562	blood:	n/a	n/a
29	MYC	chr12:58148441-58148773	NB4	blood:	n/a	n/a
30	MAZ	chr12:58148242-58149001	Hela-S3	cervix:	n/a	n/a
31	TCF3	chr12:58148491-58149054	GM12878	blood:	n/a	chr12:58148721-58148735 chr12:58148723-58148733
32	NRF1	chr12:58147820-58148990	SK-N-SH	brain:	n/a	n/a
33	MYC	chr12:58148581-58148727	MCF-7	breast:	n/a	n/a
34	UBTF	chr12:58148566-58149032	K562	blood:	n/a	n/a
35	STAT1	chr12:58148454-58148721	GM12878	blood:	n/a	chr12:58148475-58148487
36	SIN3A	chr12:58148095-58148765	H1-hESC	embryonic stem cell:	n/a	chr12:58148739-58148750
37	HEY1	chr12:58148321-58148777	HepG2	liver:	n/a	chr12:58148728-58148743
38	YY1	chr12:58148694-58149064	SK-N-SH	brain:	n/a	chr12:58148739-58148750 chr12:58149012-58149026 chr12:58148887-58148897
39	NRF1	chr12:58148615-58148815	H1-hESC	embryonic stem cell:	n/a	n/a
40	CCNT2	chr12:58148217-58149059	K562	blood:	n/a	chr12:58148712-58148721
41	SRF	chr12:58147950-58148799	ECC-1	luminal epithelium:	n/a	chr12:58148217-58148228 chr12:58148214-58148232 chr12:58148217-58148234 chr12:58148216-58148229 chr12:58148217-58148231 chr12:58148218-58148232 chr12:58148214-58148228
42	RCOR1	chr12:58148183-58148926	K562	blood:	n/a	n/a
43	POLR2A	chr12:58148463-58149842	GM15510	blood:	n/a	n/a
44	MAX	chr12:58148366-58148796	Hela-S3	cervix:	n/a	n/a
45	MYC	chr12:58148456-58148819	MCF-7	breast:	n/a	n/a
46	BHLHE40	chr12:58148512-58148931	GM12878	blood:	n/a	n/a
47	POLR2A	chr12:58148464-58148788	MCF-7	breast:	n/a	n/a
48	EBF1	chr12:58148385-58148862	GM12878	blood:	n/a	chr12:58148714-58148725
49	MAX	chr12:58148557-58148878	K562	blood:	n/a	n/a
50	YY1	chr12:58148710-58149062	SK-N-SH_RA	brain:	n/a	chr12:58148739-58148750 chr12:58149012-58149026 chr12:58148887-58148897

No.	Distal block	Cell Line	Cell type
1	chr12:57914860..57917603-chr12:58144909..58148802,3	K562	blood:
2	chr12:58026019..58028946-chr12:58148453..58151531,3	K562	blood:
3	chr12:58146971..58149952-chr17:56735164..56736689,2	MCF-7	breast:
4	chr12:57912818..57918945-chr12:58145879..58149998,6	MCF-7	breast:
5	chr12:58148177..58150864-chr12:58195789..58197895,2	MCF-7	breast:
6	chr12:58146595..58149356-chr12:58175469..58178051,2	K562	blood:
7	chr12:58147914..58149817-chr12:124454309..124457254,2	MCF-7	breast:

Variant related genes	Relation type
CDK4	TF binding region
MARCH9	TF binding region
ENSG00000166987	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000270039	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000270061	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000123297	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000270095	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv899123	chr12:58118248-58155023	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv826384	chr12:58124758-58157850	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv826386	chr12:58135303-58150535	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	esv3374332	chr12:58147710-58151058	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
12	esv3347201	chr12:58148060-58150608	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	15 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	chr12:58146400-58148800	Flanking Active TSS	K562	blood
2	chr12:58147000-58148800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:58148000-58148800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:58148000-58148800	Flanking Active TSS	Brain Hippocampus Middle	brain
5	chr12:58148000-58148800	Flanking Active TSS	Dnd41	blood
6	chr12:58148000-58149800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:58148200-58148800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:58148200-58148800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:58148200-58148800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:58148200-58148800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
11	chr12:58148200-58148800	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr12:58148200-58148800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr12:58148200-58148800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr12:58148200-58148800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr12:58148200-58148800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:58148200-58148800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:58148200-58148800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr12:58148200-58148800	Flanking Active TSS	Colonic Mucosa	Colon
19	chr12:58148200-58148800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr12:58148200-58148800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr12:58148200-58148800	Flanking Active TSS	Fetal Brain Male	brain
22	chr12:58148200-58148800	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr12:58148200-58148800	Flanking Active TSS	Fetal Thymus	thymus
24	chr12:58148200-58148800	Flanking Active TSS	Lung	lung
25	chr12:58148200-58148800	Flanking Active TSS	Pancreas	Pancrea
26	chr12:58148200-58148800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr12:58148200-58148800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr12:58148200-58148800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr12:58148200-58148800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr12:58148200-58149000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr12:58148200-58149200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:58148200-58149600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr12:58148200-58149600	Active TSS	Psoas Muscle	Psoas
34	chr12:58148200-58150000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr12:58148400-58148800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:58148400-58148800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:58148400-58148800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:58148400-58148800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:58148400-58148800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:58148400-58148800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:58148400-58148800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr12:58148400-58148800	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr12:58148400-58148800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr12:58148400-58148800	Flanking Active TSS	Placenta	Placenta
45	chr12:58148400-58148800	Flanking Active TSS	Gastric	stomach
46	chr12:58148400-58148800	Flanking Active TSS	Right Ventricle	heart
47	chr12:58148400-58148800	Flanking Bivalent TSS/Enh	NHLF	lung
48	chr12:58148400-58149600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:58148400-58149800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr12:58148400-58150400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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