Variant report

Variant	rs192432762
Chromosome Location	chr12:57823731-57823732
allele	A/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	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	chr12:57823615-57825307	K562	blood:	n/a	n/a
7	MXI1	chr12:57823539-57824114	K562	blood:	n/a	chr12:57823711-57823720
8	POLR2A	chr12:57823478-57825510	HL-60	blood:	n/a	n/a
9	MXI1	chr12:57823573-57823903	H1-hESC	embryonic stem cell:	n/a	chr12:57823711-57823720
10	MYC	chr12:57823495-57825210	K562	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
11	EP300	chr12:57823632-57824205	K562	blood:	n/a	chr12:57823831-57823845
12	POLR2A	chr12:57823517-57825363	K562	blood:	n/a	n/a
13	E2F6	chr12:57823679-57825118	K562	blood:	n/a	chr12:57824339-57824351 chr12:57824269-57824279 chr12:57824880-57824891 chr12:57824296-57824305 chr12:57824609-57824618
14	POLR2A	chr12:57823705-57823777	HUVEC	blood vessel:	n/a	n/a
15	MAX	chr12:57823367-57825494	A549	lung:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
16	MAX	chr12:57823553-57825205	K562	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
17	MAX	chr12:57823652-57823947	GM12878	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720
18	TBP	chr12:57823670-57825187	K562	blood:	n/a	n/a
19	TBP	chr12:57823627-57824236	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr12:57823658-57824000	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr12:57823681-57824268	HepG2	liver:	n/a	n/a
22	HEY1	chr12:57823586-57825205	K562	blood:	n/a	chr12:57824799-57824814 chr12:57824293-57824308
23	MXI1	chr12:57823020-57825888	SK-N-SH	brain:	n/a	chr12:57823711-57823720
24	MXI1	chr12:57823564-57825385	IMR90	lung:	n/a	chr12:57823711-57823720
25	POLR2A	chr12:57823651-57825451	HepG2	liver:	n/a	n/a
26	GATA1	chr12:57823553-57824041	PBDE	blood:	n/a	n/a
27	TEAD4	chr12:57823521-57824284	K562	blood:	n/a	n/a
28	UBTF	chr12:57823683-57824488	K562	blood:	n/a	n/a
29	POLR2A	chr12:57823523-57825405	K562	blood:	n/a	n/a
30	RCOR1	chr12:57823632-57824258	K562	blood:	n/a	n/a
31	HCFC1	chr12:57823353-57825885	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr12:57823106-57824642	GM12892	blood:	n/a	n/a
33	MAX	chr12:57823562-57823888	H1-hESC	embryonic stem cell:	n/a	chr12:57823713-57823721 chr12:57823710-57823720
34	POLR2A	chr12:57823645-57825413	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:57823554-57823860	K562	blood:	n/a	n/a
36	TBL1XR1	chr12:57823700-57824018	K562	blood:	n/a	n/a
37	MAX	chr12:57823509-57825250	MCF-7	breast:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
38	MYC	chr12:57823645-57823739	Hela-S3	cervix:	n/a	chr12:57823713-57823721 chr12:57823710-57823720
39	MAX	chr12:57823563-57824457	NB4	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720
40	MAX	chr12:57823559-57825197	Hela-S3	cervix:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
41	POLR2A	chr12:57823612-57825405	HUVEC	blood vessel:	n/a	n/a
42	CCNT2	chr12:57823675-57824093	K562	blood:	n/a	n/a
43	MAX	chr12:57823562-57823908	A549	lung:	n/a	chr12:57823713-57823721 chr12:57823710-57823720
44	POLR2A	chr12:57823641-57823921	HCT-116	colon:	n/a	n/a
45	MXI1	chr12:57823562-57824191	Hela-S3	cervix:	n/a	chr12:57823711-57823720
46	IRF1	chr12:57823505-57823967	K562	blood:	n/a	chr12:57823542-57823556 chr12:57823678-57823695
47	POLR2A	chr12:57823486-57825257	K562	blood:	n/a	n/a
48	POLR2A	chr12:57823563-57825675	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr12:57823703-57825380	GM12892	blood:	n/a	n/a
50	CBX3	chr12:57823495-57824263	K562	blood:	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
ENSG00000201198	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000268367	Chromatin interaction
ENSG00000134899	Chromatin interaction
ENSG00000111087	Chromatin interaction
ENSG00000139269	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000175189	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	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
2	chr12:57770800-57824000	Weak transcription	Gastric	stomach
3	chr12:57822800-57823800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:57822800-57823800	Enhancers	Small Intestine	intestine
5	chr12:57823000-57824000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:57823000-57824000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr12:57823000-57824000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:57823000-57824200	Flanking Active TSS	K562	blood
9	chr12:57823000-57825200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:57823200-57823800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:57823200-57823800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:57823200-57823800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:57823200-57823800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr12:57823200-57823800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr12:57823200-57823800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr12:57823200-57823800	Flanking Active TSS	Fetal Intestine Small	intestine
17	chr12:57823200-57823800	Enhancers	Lung	lung
18	chr12:57823200-57823800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr12:57823200-57823800	Enhancers	Spleen	Spleen
20	chr12:57823200-57823800	Flanking Active TSS	Hela-S3	cervix
21	chr12:57823200-57823800	Active TSS	HepG2	liver
22	chr12:57823200-57824000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:57823200-57824000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr12:57823200-57824000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr12:57823200-57824000	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr12:57823200-57824000	Flanking Active TSS	Fetal Thymus	thymus
27	chr12:57823200-57824000	Flanking Active TSS	Dnd41	blood
28	chr12:57823200-57824000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr12:57823200-57824000	Flanking Active TSS	Osteobl	bone
30	chr12:57823200-57824200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:57823200-57824200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:57823200-57824200	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr12:57823200-57825000	Active TSS	HSMMtube	muscle
34	chr12:57823200-57825600	Active TSS	HMEC	breast
35	chr12:57823400-57823800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:57823400-57823800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr12:57823400-57823800	Active TSS	Fetal Kidney	kidney
38	chr12:57823400-57823800	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr12:57823400-57823800	Flanking Active TSS	Fetal Stomach	stomach
40	chr12:57823400-57823800	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr12:57823400-57823800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr12:57823400-57823800	Enhancers	Stomach Mucosa	stomach
43	chr12:57823400-57823800	Flanking Active TSS	HUVEC	blood vessel
44	chr12:57823400-57823800	Flanking Active TSS	NHDF-Ad	bronchial
45	chr12:57823400-57824000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr12:57823400-57824000	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr12:57823400-57824000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr12:57823400-57824000	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr12:57823400-57824000	Flanking Active TSS	Thymus	Thymus
50	chr12:57823400-57824200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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