Variant report

Variant	rs559702501
Chromosome Location	chr12:64844859-64844860
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	POLR2A	chr12:64844809-64846944	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr12:64844713-64847395	PBDE	blood:	n/a	n/a
3	POLR2A	chr12:64844805-64844864	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr12:64844538-64847042	K562	blood:	n/a	n/a
5	POLR2A	chr12:64844526-64846950	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:64843943-64846937	MCF-7	breast:	n/a	n/a
7	POLR2A	chr12:64843925-64845284	HCT-116	colon:	n/a	n/a
8	POLR2A	chr12:64844036-64846476	PANC-1	pancreas:	n/a	n/a
9	SIN3AK20	chr12:64844831-64847232	MCF-7	breast:	n/a	n/a
10	POLR2A	chr12:64844834-64847150	U87	brain:	n/a	n/a
11	ARID3A	chr12:64844757-64845111	K562	blood:	n/a	n/a
12	POLR2A	chr12:64844831-64846438	HL-60	blood:	n/a	n/a
13	POLR2A	chr12:64843821-64846588	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr12:64844792-64846025	MCF10A-Er-Src	breast:	n/a	chr12:64845921-64845931 chr12:64845866-64845877 chr12:64845867-64845876 chr12:64845543-64845553 chr12:64845554-64845570 chr12:64845865-64845878 chr12:64845867-64845876 chr12:64845541-64845550
15	POLR2A	chr12:64842636-64846905	Hela-S3	cervix:	n/a	n/a
16	MXI1	chr12:64844461-64847681	SK-N-SH	brain:	n/a	chr12:64845544-64845553 chr12:64845866-64845875
17	HCFC1	chr12:64844619-64847795	Hela-S3	cervix:	n/a	n/a
18	RCOR1	chr12:64844835-64847105	K562	blood:	n/a	n/a
19	POLR2A	chr12:64844005-64846938	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr12:64843514-64847041	U87	brain:	n/a	n/a
21	POLR2A	chr12:64843957-64847038	GM12891	blood:	n/a	n/a
22	POLR2A	chr12:64843009-64846467	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr12:64843643-64846062	A549	lung:	n/a	n/a
24	POLR2A	chr12:64844469-64847052	K562	blood:	n/a	n/a
25	POLR2A	chr12:64836873-64847203	K562	blood:	n/a	n/a
26	POLR2A	chr12:64844420-64845295	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:64844770-64846363	ECC-1	luminal epithelium:	n/a	n/a
28	MTA3	chr12:64844725-64846780	GM12878	blood:	n/a	n/a
29	MXI1	chr12:64844712-64847272	IMR90	lung:	n/a	chr12:64845544-64845553 chr12:64845866-64845875
30	POLR2A	chr12:64843863-64846871	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr12:64843951-64846990	U87	brain:	n/a	n/a
32	POLR2A	chr12:64843544-64847110	U87	brain:	n/a	n/a
33	POLR2A	chr12:64844513-64846455	GM12878	blood:	n/a	n/a
34	BCL3	chr12:64844749-64845980	A549	lung:	n/a	chr12:64844797-64844806 chr12:64845946-64845955 chr12:64845897-64845906 chr12:64845415-64845424 chr12:64845792-64845801
35	UBTF	chr12:64844846-64845269	K562	blood:	n/a	n/a
36	POLR2A	chr12:64844412-64847148	K562	blood:	n/a	n/a
37	POLR2A	chr12:64843726-64846853	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:64796894..64803590-chr12:64839858..64848176,19	K562	blood:
2	chr12:64817684..64820353-chr12:64842113..64845910,3	K562	blood:
3	chr12:64844835..64848934-chr12:65001187..65005448,7	MCF-7	breast:
4	chr12:64794953..64800786-chr12:64842676..64849530,27	K562	blood:
5	chr12:64844696..64847501-chr12:65001513..65004366,3	K562	blood:
6	chr12:64805977..64807878-chr12:64843024..64845293,2	K562	blood:
7	chr12:64835889..64842524-chr12:64842731..64847480,12	K562	blood:
8	chr12:64797372..64804702-chr12:64843540..64848189,12	MCF-7	breast:

Variant related genes	Relation type
TBK1	TF binding region
ENSG00000255566	Chromatin interaction
ENSG00000153179	Chromatin interaction
ENSG00000184575	Chromatin interaction
ENSG00000256670	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3442048	chr12:64844710-64847258	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr12:64821600-64845000	Weak transcription	Stomach Mucosa	stomach
2	chr12:64828600-64845000	Weak transcription	Colonic Mucosa	Colon
3	chr12:64830800-64845000	Weak transcription	Spleen	Spleen
4	chr12:64831000-64845000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:64831000-64845400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:64831000-64845400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:64831000-64845400	Weak transcription	Small Intestine	intestine
8	chr12:64837400-64845000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:64837400-64845000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:64837400-64845000	Weak transcription	Aorta	Aorta
11	chr12:64837400-64845000	Weak transcription	Gastric	stomach
12	chr12:64837400-64845000	Weak transcription	Pancreas	Pancrea
13	chr12:64837400-64845000	Weak transcription	Thymus	Thymus
14	chr12:64837600-64845000	Weak transcription	Ovary	ovary
15	chr12:64837600-64845400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:64841000-64845000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:64841200-64845000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:64841200-64845200	Weak transcription	Primary T cells from cord blood	blood
19	chr12:64841600-64845000	Weak transcription	Esophagus	oesophagus
20	chr12:64841600-64845000	Weak transcription	Fetal Stomach	stomach
21	chr12:64841600-64845400	Weak transcription	Lung	lung
22	chr12:64842000-64845000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:64842000-64845000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:64842000-64845000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:64842000-64845000	Weak transcription	Left Ventricle	heart
26	chr12:64842000-64845000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:64842000-64845000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:64842000-64845000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:64842000-64845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:64842000-64845000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:64842200-64845000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:64842200-64845000	Weak transcription	Fetal Thymus	thymus
33	chr12:64842400-64845000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:64842800-64845000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:64842800-64845000	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:64843000-64845000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:64843000-64845000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:64843000-64845000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:64843000-64845000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:64843000-64845000	Weak transcription	Psoas Muscle	Psoas
41	chr12:64843400-64845000	Weak transcription	Placenta	Placenta
42	chr12:64844000-64845000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:64844000-64845000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr12:64844000-64845000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:64844000-64845000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr12:64844000-64845000	Genic enhancers	HSMM	muscle
47	chr12:64844200-64845000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr12:64844200-64845000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:64844200-64845000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr12:64844200-64845200	Flanking Active TSS	GM12878-XiMat	blood

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