Variant report

Variant	rs575424475
Chromosome Location	chr12:57824100-57824101
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	NR2F2	chr12:57823499-57824378	K562	blood:	n/a	n/a
2	RUNX3	chr12:57823918-57825303	GM12878	blood:	n/a	chr12:57824238-57824255
3	POLR2A	chr12:57823603-57825744	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr12:57823421-57825630	A549	lung:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
5	CTCF	chr12:57824100-57824250	GM12864	blood:	n/a	n/a
6	CTCF	chr12:57824100-57824250	AG10803	skin:	n/a	n/a
7	TBL1XR1	chr12:57823569-57824159	K562	blood:	n/a	n/a
8	EP300	chr12:57823654-57824207	GM12878	blood:	n/a	chr12:57823831-57823845
9	POLR2A	chr12:57823747-57824152	K562	blood:	n/a	n/a
10	YY1	chr12:57824031-57824247	GM12878	blood:	n/a	n/a
11	TAF1	chr12:57823958-57825148	K562	blood:	n/a	n/a
12	POLR2A	chr12:57823736-57825230	K562	blood:	n/a	n/a
13	POLR2A	chr12:57823615-57825307	K562	blood:	n/a	n/a
14	CTCF	chr12:57824100-57824250	HepG2	liver:	n/a	n/a
15	MXI1	chr12:57823539-57824114	K562	blood:	n/a	chr12:57823711-57823720
16	POLR2A	chr12:57823478-57825510	HL-60	blood:	n/a	n/a
17	SIN3AK20	chr12:57823737-57824245	A549	lung:	n/a	n/a
18	CTCF	chr12:57824100-57824250	HUVEC	blood vessel:	n/a	n/a
19	MYC	chr12:57823495-57825210	K562	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
20	EP300	chr12:57823632-57824205	K562	blood:	n/a	chr12:57823831-57823845
21	CTCF	chr12:57824100-57824250	Caco-2	colon:	n/a	n/a
22	POLR2A	chr12:57823517-57825363	K562	blood:	n/a	n/a
23	E2F6	chr12:57823679-57825118	K562	blood:	n/a	chr12:57824339-57824351 chr12:57824269-57824279 chr12:57824880-57824891 chr12:57824296-57824305 chr12:57824609-57824618
24	E2F6	chr12:57824094-57824684	K562	blood:	n/a	chr12:57824339-57824351 chr12:57824269-57824279 chr12:57824296-57824305 chr12:57824609-57824618
25	POLR2A	chr12:57823846-57825334	PANC-1	pancreas:	n/a	n/a
26	MAX	chr12:57823367-57825494	A549	lung:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
27	MAX	chr12:57823553-57825205	K562	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
28	TBP	chr12:57823954-57824149	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:57823989-57824298	GM12878	blood:	n/a	n/a
30	TBP	chr12:57823670-57825187	K562	blood:	n/a	n/a
31	POLR2A	chr12:57823859-57825448	Hela-S3	cervix:	n/a	n/a
32	TBP	chr12:57823814-57824138	HepG2	liver:	n/a	n/a
33	POLR2A	chr12:57823813-57824107	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr12:57823978-57825221	Hela-S3	cervix:	n/a	n/a
35	TBP	chr12:57823627-57824236	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr12:57823681-57824268	HepG2	liver:	n/a	n/a
37	PML	chr12:57823957-57824549	K562	blood:	n/a	n/a
38	TAF1	chr12:57823897-57825206	K562	blood:	n/a	n/a
39	POLR2A	chr12:57823953-57825349	GM18505	blood:	n/a	n/a
40	SIN3AK20	chr12:57823988-57824617	K562	blood:	n/a	n/a
41	HEY1	chr12:57823586-57825205	K562	blood:	n/a	chr12:57824799-57824814 chr12:57824293-57824308
42	RUNX3	chr12:57823792-57825151	GM12878	blood:	n/a	chr12:57824238-57824255
43	POLR2A	chr12:57824039-57825146	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:57824028-57825357	GM19193	blood:	n/a	n/a
45	UBTF	chr12:57823828-57825142	K562	blood:	n/a	n/a
46	POLR2A	chr12:57823944-57824255	GM12891	blood:	n/a	n/a
47	CTCF	chr12:57824040-57824190	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr12:57824100-57824250	BJ	skin:	n/a	n/a
49	MXI1	chr12:57823020-57825888	SK-N-SH	brain:	n/a	chr12:57823711-57823720
50	YY1	chr12:57824057-57825020	K562	blood:	n/a	chr12:57824294-57824308 chr12:57824800-57824811 chr12:57824265-57824276

No.	Distal block	Cell Line	Cell type
1	chr12:57820715..57827591-chr12:57847165..57857509,18	K562	blood:
2	chr12:57808026..57810781-chr12:57822669..57824932,3	MCF-7	breast:
3	chr12:57675498..57678307-chr12:57822743..57825602,2	MCF-7	breast:
4	chr12:57823258..57825830-chr12:58164419..58166506,2	MCF-7	breast:
5	chr12:57822828..57827240-chr12:57828141..57836129,12	MCF-7	breast:
6	chr12:57672368..57674775-chr12:57822497..57825097,2	K562	blood:
7	chr12:57821945..57826454-chr12:57843844..57847049,4	K562	blood:
8	chr12:57822673..57825673-chr12:57914537..57916745,4	K562	blood:
9	chr12:57822102..57825804-chr12:57846903..57851131,6	MCF-7	breast:
10	chr12:57822750..57826133-chr12:57852904..57855936,4	K562	blood:
11	chr12:57734038..57735691-chr12:57822012..57824605,2	MCF-7	breast:
12	chr12:57823516..57824494-chr13:103497987..103498911,2	NB4	blood:
13	chr12:57522726..57524274-chr12:57824100..57825642,2	MCF-7	breast:
14	chr12:57821945..57831494-chr12:57839441..57852842,32	K562	blood:
15	chr12:57654294..57656088-chr12:57822678..57824554,2	MCF-7	breast:
16	chr12:57824029..57824578-chr12:124086334..124087217,2	Hela-S3	cervix:
17	chr12:57673763..57676749-chr12:57823251..57825200,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258001	TF binding region
INHBC	TF binding region
ENSG00000179912	Chromatin interaction
ENSG00000111087	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000268367	Chromatin interaction
ENSG00000175189	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000201198	Chromatin interaction
ENSG00000134899	Chromatin interaction
ENSG00000139269	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	106 gene(s)	inside rSNPs	diseases
5	esv3446927	chr12:57823485-57825733	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57823000-57824200	Flanking Active TSS	K562	blood
2	chr12:57823000-57825200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:57823200-57824200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:57823200-57824200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:57823200-57824200	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr12:57823200-57825000	Active TSS	HSMMtube	muscle
7	chr12:57823200-57825600	Active TSS	HMEC	breast
8	chr12:57823400-57824200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:57823400-57824200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr12:57823400-57824800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:57823400-57825000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:57823400-57825000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr12:57823400-57825000	Active TSS	A549	lung
14	chr12:57823400-57825200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr12:57823400-57825200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:57823400-57825200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:57823400-57825200	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr12:57823400-57825200	Active TSS	Stomach Smooth Muscle	stomach
19	chr12:57823400-57825200	Active TSS	GM12878-XiMat	blood
20	chr12:57823400-57825200	Active TSS	HSMM	muscle
21	chr12:57823400-57825400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr12:57823400-57825400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:57823400-57825400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:57823400-57825400	Active TSS	NHLF	lung
25	chr12:57823400-57825600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:57823400-57825600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr12:57823400-57825600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr12:57823600-57824200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr12:57823600-57824200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr12:57823600-57824200	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr12:57823600-57824200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr12:57823600-57824200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr12:57823600-57824200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:57823600-57824200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr12:57823600-57824200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:57823600-57824200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr12:57823600-57824200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:57823600-57824200	Flanking Active TSS	Liver	Liver
39	chr12:57823600-57824200	Active TSS	Right Atrium	heart
40	chr12:57823600-57825000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:57823600-57825000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:57823600-57825000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:57823600-57825000	Active TSS	NHEK	skin
44	chr12:57823600-57825200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:57823600-57825200	Active TSS	Brain Hippocampus Middle	brain
46	chr12:57823600-57825200	Active TSS	Pancreas	Pancrea
47	chr12:57823600-57825200	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr12:57823600-57825400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:57823600-57825400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:57823600-57825400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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