Variant report

Variant	rs2233674
Chromosome Location	chr12:120933471-120933472
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	MAX	chr12:120933349-120934974	NB4	blood:	n/a	chr12:120933901-120933910
2	RFX5	chr12:120932894-120934099	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr12:120933456-120934407	HepG2	liver:	n/a	n/a
4	FOXM1	chr12:120933441-120934116	SK-N-SH	brain:	n/a	n/a
5	MAX	chr12:120933107-120934771	A549	lung:	n/a	chr12:120933901-120933910
6	FOXM1	chr12:120933213-120934154	SK-N-SH	brain:	n/a	n/a
7	ZBTB7A	chr12:120933244-120934601	ECC-1	luminal epithelium:	n/a	chr12:120934588-120934597
8	CEBPB	chr12:120933251-120933942	K562	blood:	n/a	n/a
9	RUNX3	chr12:120933429-120934118	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:120932700-120934745	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3AK20	chr12:120933310-120934027	K562	blood:	n/a	n/a
12	POLR2A	chr12:120933406-120934622	GM12878	blood:	n/a	n/a
13	SIN3AK20	chr12:120933429-120934763	SK-N-SH	brain:	n/a	n/a
14	CEBPB	chr12:120933181-120934084	A549	lung:	n/a	n/a
15	MAX	chr12:120933397-120934198	HepG2	liver:	n/a	chr12:120933901-120933910
16	CREB1	chr12:120933284-120934252	HepG2	liver:	n/a	n/a
17	NR2F2	chr12:120933429-120934286	K562	blood:	n/a	n/a
18	NFYB	chr12:120933429-120934105	GM12878	blood:	n/a	chr12:120933789-120933804
19	CEBPB	chr12:120933270-120933942	H1-hESC	embryonic stem cell:	n/a	n/a
20	MXI1	chr12:120932934-120935947	IMR90	lung:	n/a	n/a
21	GTF2F1	chr12:120933260-120934097	Hela-S3	cervix:	n/a	n/a
22	FOXM1	chr12:120933297-120934290	ECC-1	luminal epithelium:	n/a	n/a
23	CEBPB	chr12:120933256-120934075	Hela-S3	cervix:	n/a	n/a
24	EP300	chr12:120933447-120934226	ECC-1	luminal epithelium:	n/a	chr12:120933890-120933899
25	MAX	chr12:120933262-120934764	K562	blood:	n/a	chr12:120933901-120933910
26	YY1	chr12:120933395-120934220	ECC-1	luminal epithelium:	n/a	chr12:120933888-120933897 chr12:120933853-120933864 chr12:120933850-120933864 chr12:120933498-120933507 chr12:120933501-120933510 chr12:120933895-120933906 chr12:120933888-120933902 chr12:120933889-120933903 chr12:120933499-120933510
27	TCF12	chr12:120933456-120934171	ECC-1	luminal epithelium:	n/a	n/a
28	ELF1	chr12:120933436-120934881	GM12878	blood:	n/a	chr12:120933888-120933897 chr12:120933851-120933863 chr12:120934705-120934717
29	POLR2A	chr12:120933391-120934876	U87	brain:	n/a	n/a
30	MAX	chr12:120933451-120934162	SK-N-SH	brain:	n/a	chr12:120933901-120933910
31	POLR2A	chr12:120933345-120934293	Hela-S3	cervix:	n/a	n/a
32	USF2	chr12:120933434-120933852	GM12878	blood:	n/a	n/a
33	MAX	chr12:120933390-120934312	ECC-1	luminal epithelium:	n/a	chr12:120933901-120933910
34	BCL3	chr12:120933144-120934475	A549	lung:	n/a	chr12:120933889-120933898 chr12:120933499-120933508 chr12:120933856-120933869 chr12:120933891-120933904 chr12:120933843-120933856 chr12:120933497-120933510 chr12:120933890-120933903 chr12:120933888-120933901
35	SIN3AK20	chr12:120933357-120934767	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr12:120933260-120933481	Hela-S3	cervix:	n/a	n/a
37	SP1	chr12:120933306-120934325	HCT-116	colon:	n/a	chr12:120933824-120933845 chr12:120933506-120933515 chr12:120933866-120933878 chr12:120933498-120933508 chr12:120933846-120933858 chr12:120933847-120933856 chr12:120933498-120933507 chr12:120933505-120933517 chr12:120933505-120933517 chr12:120933843-120933857 chr12:120933846-120933858 chr12:120933494-120933508 chr12:120933497-120933509 chr12:120933499-120933508 chr12:120933506-120933516 chr12:120933847-120933857 chr12:120933848-120933857 chr12:120933497-120933509 chr12:120933868-120933877 chr12:120933866-120933878 chr12:120933502-120933516 chr12:120933848-120933857 chr12:120933508-120933522 chr12:120933847-120933857
38	POLR2A	chr12:120933238-120935443	K562	blood:	n/a	n/a
39	SIX5	chr12:120933405-120934144	A549	lung:	n/a	n/a
40	POLR2A	chr12:120933386-120934150	Hela-S3	cervix:	n/a	n/a
41	RXRA	chr12:120933454-120934242	SK-N-SH	brain:	n/a	n/a
42	REST	chr12:120933426-120934101	HepG2	liver:	n/a	chr12:120934012-120934021 chr12:120933863-120933876
43	POLR2A	chr12:120933458-120933493	A549	lung:	n/a	n/a
44	POLR2A	chr12:120933369-120934403	GM18951	blood:	n/a	n/a
45	MXI1	chr12:120933199-120934766	GM12878	blood:	n/a	n/a
46	YY1	chr12:120933390-120934238	GM12878	blood:	n/a	chr12:120933888-120933897 chr12:120933853-120933864 chr12:120933850-120933864 chr12:120933498-120933507 chr12:120933501-120933510 chr12:120933895-120933906 chr12:120933888-120933902 chr12:120933889-120933903 chr12:120933499-120933510
47	NFYB	chr12:120933295-120934526	K562	blood:	n/a	chr12:120933789-120933804
48	POLR2A	chr12:120933368-120934767	HUVEC	blood vessel:	n/a	n/a
49	YY1	chr12:120933470-120934141	A549	lung:	n/a	chr12:120933888-120933897 chr12:120933853-120933864 chr12:120933850-120933864 chr12:120933498-120933507 chr12:120933501-120933510 chr12:120933895-120933906 chr12:120933888-120933902 chr12:120933889-120933903 chr12:120933499-120933510
50	SP1	chr12:120933468-120934091	H1-hESC	embryonic stem cell:	n/a	chr12:120933824-120933845 chr12:120933506-120933515 chr12:120933866-120933878 chr12:120933498-120933508 chr12:120933846-120933858 chr12:120933847-120933856 chr12:120933498-120933507 chr12:120933505-120933517 chr12:120933505-120933517 chr12:120933843-120933857 chr12:120933846-120933858 chr12:120933494-120933508 chr12:120933497-120933509 chr12:120933499-120933508 chr12:120933506-120933516 chr12:120933847-120933857 chr12:120933848-120933857 chr12:120933497-120933509 chr12:120933868-120933877 chr12:120933866-120933878 chr12:120933502-120933516 chr12:120933848-120933857 chr12:120933508-120933522 chr12:120933847-120933857

No.	Distal block	Cell Line	Cell type
1	chr12:120932256..120933907-chr12:121163568..121165068,2	K562	blood:
2	chr12:120905836..120910535-chr12:120931936..120937198,12	MCF-7	breast:
3	chr12:120933021..120935221-chr12:120970996..120973452,2	MCF-7	breast:
4	chr12:120932502..120935417-chr12:120966408..120968984,3	MCF-7	breast:
5	chr12:120883917..120885569-chr12:120932790..120935267,2	MCF-7	breast:
6	chr12:120932975..120935609-chr12:120965561..120969430,6	K562	blood:
7	chr12:120728571..120731119-chr12:120933119..120935775,4	K562	blood:
8	chr12:120932493..120935871-chr12:120970423..120972998,4	K562	blood:
9	chr12:120727403..120732311-chr12:120930839..120935563,15	MCF-7	breast:
10	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
11	chr12:120905117..120912400-chr12:120930505..120935641,13	K562	blood:
12	chr12:120932523..120935512-chr12:120965345..120968367,3	MCF-7	breast:
13	chr12:120932857..120935871-chr12:120969535..120974885,9	K562	blood:
14	chr12:120933177..120935963-chr12:120940341..120945552,6	K562	blood:
15	chr12:120882261..120885066-chr12:120932076..120935293,3	K562	blood:
16	chr12:120903651..120915747-chr12:120930491..120936868,24	K562	blood:
17	chr12:120932725..120938580-chr12:120938743..120942478,11	MCF-7	breast:
18	chr12:120728048..120731447-chr12:120933331..120935879,5	K562	blood:
19	chr12:120729347..120730894-chr12:120930653..120933497,2	MCF-7	breast:
20	chr12:120931985..120935585-chr12:120970035..120974742,8	MCF-7	breast:

Variant related genes	Relation type
DYNLL1	TF binding region
ENSG00000170855	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000122971	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000222601	Chromatin interaction

rs_ID	r²[population]
rs11065134	1.00[AMR][1000 genomes]
rs7134508	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9657928	1.00[AMR][1000 genomes]
rs9657932	1.00[AMR][1000 genomes]
rs9657943	1.00[AMR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120932400-120934000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:120932600-120935000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:120932600-120935200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:120932600-120935400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr12:120932600-120935400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:120932600-120935400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr12:120932800-120933600	Flanking Active TSS	Dnd41	blood
8	chr12:120932800-120935000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:120932800-120935000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr12:120932800-120935200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr12:120932800-120935600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:120932800-120935600	Active TSS	Brain Substantia Nigra	brain
13	chr12:120932800-120936200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:120933000-120933600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr12:120933000-120933600	Enhancers	Spleen	Spleen
16	chr12:120933000-120935000	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:120933000-120935000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr12:120933000-120935000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:120933000-120935000	Active TSS	Stomach Mucosa	stomach
20	chr12:120933000-120935000	Active TSS	A549	lung
21	chr12:120933000-120935200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:120933000-120935200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr12:120933000-120935400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr12:120933000-120935400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:120933000-120935400	Active TSS	Brain Angular Gyrus	brain
26	chr12:120933000-120935400	Active TSS	Right Ventricle	heart
27	chr12:120933000-120935400	Active TSS	Small Intestine	intestine
28	chr12:120933000-120935600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:120933000-120936000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:120933200-120933600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr12:120933200-120933600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:120933200-120933800	Active TSS	Aorta	Aorta
33	chr12:120933200-120933800	Active TSS	Right Atrium	heart
34	chr12:120933200-120934000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:120933200-120934200	Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr12:120933200-120934200	Active TSS	HepG2	liver
37	chr12:120933200-120934800	Active TSS	NHLF	lung
38	chr12:120933200-120935000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr12:120933200-120935000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:120933200-120935000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:120933200-120935000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:120933200-120935000	Active TSS	Lung	lung
43	chr12:120933200-120935000	Active TSS	GM12878-XiMat	blood
44	chr12:120933200-120935000	Active TSS	HMEC	breast
45	chr12:120933200-120935200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:120933200-120935200	Active TSS	Fetal Lung	lung
47	chr12:120933200-120935200	Active TSS	Rectal Smooth Muscle	rectum
48	chr12:120933200-120935200	Active TSS	Thymus	Thymus
49	chr12:120933200-120935200	Active TSS	NHEK	skin
50	chr12:120933200-120935400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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