Variant report

Variant	rs548989567
Chromosome Location	chr12:57823819-57823820
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	POLR2A	chr12:57823603-57825744	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr12:57823421-57825630	A549	lung:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
4	TBL1XR1	chr12:57823569-57824159	K562	blood:	n/a	n/a
5	EP300	chr12:57823654-57824207	GM12878	blood:	n/a	chr12:57823831-57823845
6	POLR2A	chr12:57823747-57824152	K562	blood:	n/a	n/a
7	POLR2A	chr12:57823736-57825230	K562	blood:	n/a	n/a
8	POLR2A	chr12:57823615-57825307	K562	blood:	n/a	n/a
9	MXI1	chr12:57823539-57824114	K562	blood:	n/a	chr12:57823711-57823720
10	POLR2A	chr12:57823478-57825510	HL-60	blood:	n/a	n/a
11	SIN3AK20	chr12:57823737-57824245	A549	lung:	n/a	n/a
12	MXI1	chr12:57823573-57823903	H1-hESC	embryonic stem cell:	n/a	chr12:57823711-57823720
13	MYC	chr12:57823495-57825210	K562	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
14	EP300	chr12:57823632-57824205	K562	blood:	n/a	chr12:57823831-57823845
15	POLR2A	chr12:57823517-57825363	K562	blood:	n/a	n/a
16	E2F6	chr12:57823679-57825118	K562	blood:	n/a	chr12:57824339-57824351 chr12:57824269-57824279 chr12:57824880-57824891 chr12:57824296-57824305 chr12:57824609-57824618
17	STAT3	chr12:57823812-57823865	MCF10A-Er-Src	breast:	n/a	n/a
18	MAX	chr12:57823367-57825494	A549	lung:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
19	MAX	chr12:57823553-57825205	K562	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
20	MAX	chr12:57823652-57823947	GM12878	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720
21	TBP	chr12:57823670-57825187	K562	blood:	n/a	n/a
22	TBP	chr12:57823814-57824138	HepG2	liver:	n/a	n/a
23	POLR2A	chr12:57823813-57824107	SK-N-SH	brain:	n/a	n/a
24	TBP	chr12:57823627-57824236	Hela-S3	cervix:	n/a	n/a
25	STAT3	chr12:57823658-57824000	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr12:57823681-57824268	HepG2	liver:	n/a	n/a
27	HEY1	chr12:57823586-57825205	K562	blood:	n/a	chr12:57824799-57824814 chr12:57824293-57824308
28	RUNX3	chr12:57823792-57825151	GM12878	blood:	n/a	chr12:57824238-57824255
29	MXI1	chr12:57823020-57825888	SK-N-SH	brain:	n/a	chr12:57823711-57823720
30	MXI1	chr12:57823564-57825385	IMR90	lung:	n/a	chr12:57823711-57823720
31	POLR2A	chr12:57823651-57825451	HepG2	liver:	n/a	n/a
32	GATA1	chr12:57823553-57824041	PBDE	blood:	n/a	n/a
33	TEAD4	chr12:57823521-57824284	K562	blood:	n/a	n/a
34	UBTF	chr12:57823683-57824488	K562	blood:	n/a	n/a
35	POLR2A	chr12:57823523-57825405	K562	blood:	n/a	n/a
36	RCOR1	chr12:57823632-57824258	K562	blood:	n/a	n/a
37	HCFC1	chr12:57823353-57825885	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr12:57823106-57824642	GM12892	blood:	n/a	n/a
39	MAX	chr12:57823562-57823888	H1-hESC	embryonic stem cell:	n/a	chr12:57823713-57823721 chr12:57823710-57823720
40	POLR2A	chr12:57823645-57825413	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:57823554-57823860	K562	blood:	n/a	n/a
42	TBL1XR1	chr12:57823700-57824018	K562	blood:	n/a	n/a
43	MAX	chr12:57823509-57825250	MCF-7	breast:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
44	MAX	chr12:57823563-57824457	NB4	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720
45	MAX	chr12:57823559-57825197	Hela-S3	cervix:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
46	HEY1	chr12:57823811-57825273	HepG2	liver:	n/a	chr12:57824799-57824814 chr12:57824293-57824308
47	POLR2A	chr12:57823612-57825405	HUVEC	blood vessel:	n/a	n/a
48	CCNT2	chr12:57823675-57824093	K562	blood:	n/a	n/a
49	MAX	chr12:57823562-57823908	A549	lung:	n/a	chr12:57823713-57823721 chr12:57823710-57823720
50	POLR2A	chr12:57823641-57823921	HCT-116	colon:	n/a	n/a

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	chr12:57664699..57666780-chr12:57821580..57823850,2	K562	blood:
5	chr12:57823258..57825830-chr12:58164419..58166506,2	MCF-7	breast:
6	chr12:57822828..57827240-chr12:57828141..57836129,12	MCF-7	breast:
7	chr12:57672368..57674775-chr12:57822497..57825097,2	K562	blood:
8	chr12:57821945..57826454-chr12:57843844..57847049,4	K562	blood:
9	chr12:57685797..57688003-chr12:57821497..57823959,2	K562	blood:
10	chr12:57822673..57825673-chr12:57914537..57916745,4	K562	blood:
11	chr12:57822102..57825804-chr12:57846903..57851131,6	MCF-7	breast:
12	chr12:57822750..57826133-chr12:57852904..57855936,4	K562	blood:
13	chr12:57734038..57735691-chr12:57822012..57824605,2	MCF-7	breast:
14	chr12:57823516..57824494-chr13:103497987..103498911,2	NB4	blood:
15	chr12:57821945..57831494-chr12:57839441..57852842,32	K562	blood:
16	chr12:57654294..57656088-chr12:57822678..57824554,2	MCF-7	breast:
17	chr12:57673763..57676749-chr12:57823251..57825200,4	MCF-7	breast:

Variant related genes	Relation type
INHBC	TF binding region
ENSG00000258001	TF binding region
ENSG00000175189	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000111087	Chromatin interaction
ENSG00000268367	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000179912	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	chr12:57770800-57824000	Weak transcription	Gastric	stomach
2	chr12:57823000-57824000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:57823000-57824000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr12:57823000-57824000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:57823000-57824200	Flanking Active TSS	K562	blood
6	chr12:57823000-57825200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:57823200-57824000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:57823200-57824000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr12:57823200-57824000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr12:57823200-57824000	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr12:57823200-57824000	Flanking Active TSS	Fetal Thymus	thymus
12	chr12:57823200-57824000	Flanking Active TSS	Dnd41	blood
13	chr12:57823200-57824000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr12:57823200-57824000	Flanking Active TSS	Osteobl	bone
15	chr12:57823200-57824200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:57823200-57824200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:57823200-57824200	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr12:57823200-57825000	Active TSS	HSMMtube	muscle
19	chr12:57823200-57825600	Active TSS	HMEC	breast
20	chr12:57823400-57824000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:57823400-57824000	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr12:57823400-57824000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr12:57823400-57824000	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr12:57823400-57824000	Flanking Active TSS	Thymus	Thymus
25	chr12:57823400-57824200	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr12:57823400-57824200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr12:57823400-57824800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:57823400-57825000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:57823400-57825000	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr12:57823400-57825000	Active TSS	A549	lung
31	chr12:57823400-57825200	Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:57823400-57825200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:57823400-57825200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:57823400-57825200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr12:57823400-57825200	Active TSS	Stomach Smooth Muscle	stomach
36	chr12:57823400-57825200	Active TSS	GM12878-XiMat	blood
37	chr12:57823400-57825200	Active TSS	HSMM	muscle
38	chr12:57823400-57825400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr12:57823400-57825400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:57823400-57825400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:57823400-57825400	Active TSS	NHLF	lung
42	chr12:57823400-57825600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:57823400-57825600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr12:57823400-57825600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr12:57823600-57824000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr12:57823600-57824000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr12:57823600-57824000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr12:57823600-57824000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:57823600-57824000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr12:57823600-57824000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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