Variant report

Variant	rs61919557
Chromosome Location	chr12:63119313-63119314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:63118391-63119538	ECC-1	luminal epithelium:	n/a	n/a
2	EGR1	chr12:63118478-63119342	HCT-116	colon:	n/a	n/a
3	EP300	chr12:63118512-63119334	ECC-1	luminal epithelium:	n/a	n/a
4	RAD21	chr12:63118514-63119378	A549	lung:	n/a	n/a
5	FOSL2	chr12:63118510-63119318	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr12:63118465-63119383	SK-N-SH	brain:	n/a	n/a
7	CEBPB	chr12:63118453-63119950	A549	lung:	n/a	chr12:63119695-63119708
8	FOSL1	chr12:63118251-63119429	HCT-116	colon:	n/a	chr12:63118912-63118923
9	TEAD4	chr12:63118644-63119390	HCT-116	colon:	n/a	n/a
10	FOSL2	chr12:63118484-63119362	MCF-7	breast:	n/a	n/a
11	MAX	chr12:63118614-63119353	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr12:63118590-63119802	U87	brain:	n/a	n/a
13	FOSL2	chr12:63118225-63119720	A549	lung:	n/a	n/a
14	GATA3	chr12:63118312-63119816	A549	lung:	n/a	n/a
15	SP1	chr12:63118476-63119763	A549	lung:	n/a	n/a
16	TEAD4	chr12:63118645-63119479	A549	lung:	n/a	n/a
17	TEAD4	chr12:63118517-63119479	ECC-1	luminal epithelium:	n/a	n/a
18	SP1	chr12:63118143-63119858	A549	lung:	n/a	n/a
19	SIX5	chr12:63118386-63119690	A549	lung:	n/a	n/a
20	HDAC2	chr12:63118621-63119318	MCF-7	breast:	n/a	n/a
21	TCF12	chr12:63118414-63119411	ECC-1	luminal epithelium:	n/a	n/a
22	TCF12	chr12:63118519-63119446	A549	lung:	n/a	n/a
23	EGR1	chr12:63118387-63119455	HCT-116	colon:	n/a	n/a
24	RAD21	chr12:63118460-63119405	HCT-116	colon:	n/a	n/a
25	TCF12	chr12:63118603-63119402	ECC-1	luminal epithelium:	n/a	n/a
26	BCL3	chr12:63118611-63119372	A549	lung:	n/a	n/a
27	SP1	chr12:63118042-63119480	HCT-116	colon:	n/a	n/a
28	EP300	chr12:63118287-63120050	A549	lung:	n/a	chr12:63119962-63119972
29	EP300	chr12:63118574-63119431	SK-N-SH	brain:	n/a	n/a
30	TEAD4	chr12:63118591-63119366	A549	lung:	n/a	n/a
31	TEAD4	chr12:63118568-63119364	ECC-1	luminal epithelium:	n/a	n/a
32	FOSL1	chr12:63118418-63119445	HCT-116	colon:	n/a	chr12:63118912-63118923
33	REST	chr12:63118483-63119648	A549	lung:	n/a	n/a
34	CBX3	chr12:63118514-63119367	HCT-116	colon:	n/a	n/a
35	SRF	chr12:63118536-63119337	HCT-116	colon:	n/a	n/a
36	CEBPB	chr12:63118577-63119329	A549	lung:	n/a	n/a
37	EP300	chr12:63117886-63119997	A549	lung:	n/a	chr12:63119962-63119972
38	BCL3	chr12:63118417-63119875	A549	lung:	n/a	chr12:63119755-63119764
39	GATA3	chr12:63118406-63119322	MCF-7	breast:	n/a	n/a
40	JUND	chr12:63118419-63119450	HCT-116	colon:	n/a	n/a
41	SP1	chr12:63118385-63119396	HCT-116	colon:	n/a	n/a
42	CEBPB	chr12:63118463-63119318	HCT-116	colon:	n/a	n/a
43	MAX	chr12:63118470-63120049	A549	lung:	n/a	n/a
44	CEBPB	chr12:63118357-63119551	HCT-116	colon:	n/a	n/a
45	TCF12	chr12:63118126-63120149	A549	lung:	n/a	chr12:63120121-63120130
46	MAX	chr12:63118493-63119422	A549	lung:	n/a	n/a
47	FOXM1	chr12:63118401-63119934	ECC-1	luminal epithelium:	n/a	n/a
48	SIN3AK20	chr12:63118543-63119483	HCT-116	colon:	n/a	n/a
49	JUND	chr12:63118406-63119378	HCT-116	colon:	n/a	n/a
50	POLR2A	chr12:63118590-63119876	U87	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:63117328..63119702-chr12:63121037..63122571,2	MCF-7	breast:
2	chr12:63106698..63109558-chr12:63117720..63119992,2	MCF-7	breast:
3	chr12:63115030..63117072-chr12:63117474..63119779,2	MCF-7	breast:
4	chr12:62995262..62999386-chr12:63116271..63120400,5	MCF-7	breast:
5	chr12:63110549..63113647-chr12:63118288..63120873,3	MCF-7	breast:

No data

Variant related genes	Relation type
PPM1H	TF binding region
ENSG00000257354	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000221949	Chromatin interaction

rs_ID	r²[population]
rs10506447	0.91[AMR][1000 genomes]
rs12817655	0.91[AMR][1000 genomes]

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63096600-63157000	Weak transcription	Pancreas	Pancrea
2	chr12:63107200-63125000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:63109200-63122200	Weak transcription	Gastric	stomach
4	chr12:63110000-63122200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:63112200-63121200	Enhancers	NHDF-Ad	bronchial
6	chr12:63112400-63121000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:63114000-63129400	Weak transcription	Liver	Liver
8	chr12:63114600-63120400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:63115000-63122200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:63115000-63122200	Weak transcription	Psoas Muscle	Psoas
11	chr12:63115000-63122600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:63115000-63123000	Weak transcription	Fetal Lung	lung
13	chr12:63115000-63124000	Weak transcription	Adipose Nuclei	Adipose
14	chr12:63115000-63124600	Weak transcription	Aorta	Aorta
15	chr12:63115000-63125800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:63115200-63122400	Weak transcription	Fetal Intestine Small	intestine
17	chr12:63115200-63122400	Weak transcription	Left Ventricle	heart
18	chr12:63115200-63122400	Weak transcription	Lung	lung
19	chr12:63115200-63122400	Weak transcription	Right Atrium	heart
20	chr12:63116000-63120600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:63116600-63120000	Enhancers	Hela-S3	cervix
22	chr12:63116600-63120600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:63116600-63120600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:63116600-63120600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:63116600-63120600	Enhancers	HSMM	muscle
26	chr12:63116600-63120600	Enhancers	NHLF	lung
27	chr12:63116600-63120600	Enhancers	Osteobl	bone
28	chr12:63116600-63125000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:63116800-63119600	Enhancers	Fetal Thymus	thymus
30	chr12:63116800-63121000	Enhancers	HMEC	breast
31	chr12:63117200-63119600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr12:63117200-63121000	Enhancers	Placenta	Placenta
33	chr12:63117400-63120200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:63117400-63120600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr12:63117400-63120600	Enhancers	NHEK	skin
36	chr12:63117400-63122000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:63117600-63119800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:63117600-63120000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr12:63117600-63120000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:63117600-63120600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:63117600-63120600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:63117600-63120600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:63117600-63124800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:63117800-63120000	Enhancers	HUVEC	blood vessel
45	chr12:63117800-63120600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:63117800-63121800	Weak transcription	HepG2	liver
47	chr12:63118000-63119600	Enhancers	HSMMtube	muscle
48	chr12:63118200-63119400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:63118200-63119400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr12:63118200-63119600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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