Variant report

Variant	rs2233673
Chromosome Location	chr12:120933340-120933341
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	RFX5	chr12:120932894-120934099	Hela-S3	cervix:	n/a	n/a
2	MAX	chr12:120933107-120934771	A549	lung:	n/a	chr12:120933901-120933910
3	FOXM1	chr12:120933213-120934154	SK-N-SH	brain:	n/a	n/a
4	ZBTB7A	chr12:120933244-120934601	ECC-1	luminal epithelium:	n/a	chr12:120934588-120934597
5	CEBPB	chr12:120933251-120933942	K562	blood:	n/a	n/a
6	POLR2A	chr12:120932700-120934745	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3AK20	chr12:120933310-120934027	K562	blood:	n/a	n/a
8	CEBPB	chr12:120933181-120934084	A549	lung:	n/a	n/a
9	CREB1	chr12:120933284-120934252	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:120933270-120933942	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr12:120932934-120935947	IMR90	lung:	n/a	n/a
12	GTF2F1	chr12:120933260-120934097	Hela-S3	cervix:	n/a	n/a
13	FOXM1	chr12:120933297-120934290	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr12:120933256-120934075	Hela-S3	cervix:	n/a	n/a
15	MAX	chr12:120933262-120934764	K562	blood:	n/a	chr12:120933901-120933910
16	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
17	POLR2A	chr12:120933260-120933481	Hela-S3	cervix:	n/a	n/a
18	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
19	POLR2A	chr12:120933238-120935443	K562	blood:	n/a	n/a
20	MXI1	chr12:120933199-120934766	GM12878	blood:	n/a	n/a
21	NFYB	chr12:120933295-120934526	K562	blood:	n/a	chr12:120933789-120933804
22	SIN3A	chr12:120932876-120935317	H1-hESC	embryonic stem cell:	n/a	chr12:120934139-120934152
23	SIN3A	chr12:120933246-120934697	GM12878	blood:	n/a	chr12:120934139-120934152
24	MAX	chr12:120933282-120934685	Hela-S3	cervix:	n/a	chr12:120933901-120933910
25	POLR2A	chr12:120933045-120935783	HepG2	liver:	n/a	n/a
26	FOXM1	chr12:120933239-120934174	MCF-7	breast:	n/a	n/a
27	POLR2A	chr12:120933251-120934249	ECC-1	luminal epithelium:	n/a	n/a
28	SIN3AK20	chr12:120933195-120933470	A549	lung:	n/a	n/a
29	HCFC1	chr12:120932997-120934305	Hela-S3	cervix:	n/a	n/a
30	TCF12	chr12:120933312-120934635	A549	lung:	n/a	n/a
31	POLR2A	chr12:120933279-120934172	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr12:120933297-120933855	HepG2	liver:	n/a	n/a
33	MAZ	chr12:120933304-120934683	Hela-S3	cervix:	n/a	chr12:120933901-120933910
34	MAZ	chr12:120933301-120934976	K562	blood:	n/a	chr12:120933901-120933910
35	REST	chr12:120933257-120934907	H1-neurons	neurons:	n/a	chr12:120934012-120934021 chr12:120933863-120933876 chr12:120934680-120934690
36	MXI1	chr12:120932687-120935994	SK-N-SH	brain:	n/a	n/a
37	SP1	chr12:120933314-120934323	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	SP1	chr12:120933332-120934248	A549	lung:	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
39	SIN3AK20	chr12:120933290-120934914	MCF-7	breast:	n/a	n/a
40	POLR2A	chr12:120933282-120938110	SK-N-MC	brain:	n/a	n/a
41	SIN3AK20	chr12:120933233-120934753	K562	blood:	n/a	n/a
42	SIN3AK20	chr12:120933267-120934511	HCT-116	colon:	n/a	n/a
43	FOXM1	chr12:120933322-120934575	GM12878	blood:	n/a	n/a
44	MAX	chr12:120933261-120934334	HepG2	liver:	n/a	chr12:120933901-120933910
45	POLR2A	chr12:120933293-120933475	GM12878	blood:	n/a	n/a
46	SRF	chr12:120933315-120934655	HCT-116	colon:	n/a	chr12:120933846-120933856 chr12:120933851-120933861
47	MAX	chr12:120933276-120934262	ECC-1	luminal epithelium:	n/a	chr12:120933901-120933910
48	POLR2A	chr12:120933336-120934370	H1-hESC	embryonic stem cell:	n/a	n/a
49	SIN3AK20	chr12:120933246-120934835	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120933318-120933368	SK-N-MC	brain:	n/a
2	chr12:120933318-120933368	HNPCEpiC	eye:	n/a
3	chr12:120933318-120933368	HCT-116	colon:	n/a
4	chr12:120933318-120933368	U87	brain:	n/a
5	chr12:120933318-120933368	Hepatocyte	liver:	n/a
6	chr12:120933318-120933368	HEK293	kidney:	embryo
7	chr12:120933318-120933368	Hela-S3	cervix:	n/a
8	chr12:120933318-120933368	HCPEpiC	choroid plexus:	n/a
9	chr12:120933318-120933368	LNCaP	prostate:	n/a
10	chr12:120933318-120933368	ECC-1	luminal epithelium:	n/a
11	chr12:120933318-120933368	SAEC	small airway:	n/a
12	chr12:120933318-120933368	HPAEpiC	pulmonary alveolar:	n/a
13	chr12:120933318-120933368	AG09309	skin:	n/a
14	chr12:120933318-120933368	GM06990	blood:	n/a
15	chr12:120933318-120933368	HRPEpiC	eye:	n/a
16	chr12:120933318-120933368	PrEC	prostate:	n/a
17	chr12:120933318-120933368	AG10803	skin:	n/a
18	chr12:120933318-120933368	ProgFib	skin:	n/a
19	chr12:120933318-120933368	MCF-7	breast:	n/a
20	chr12:120933318-120933368	PANC-1	pancreas:	n/a
21	chr12:120933318-120933368	A549	lung:	n/a
22	chr12:120933318-120933368	NH-A	brain:	n/a
23	chr12:120933318-120933368	H1-hESC	embryonic stem cell:	embryo
24	chr12:120933318-120933368	GM12891	blood:	n/a
25	chr12:120933318-120933368	HRCEpiC	kidney:	n/a
26	chr12:120933318-120933368	K562	blood:	n/a
27	chr12:120933318-120933368	HEEpiC	esophagus:	n/a
28	chr12:120933318-120933368	Jurkat	blood:	n/a
29	chr12:120933318-120933368	RPTEC	kidney:	n/a
30	chr12:120933318-120933368	T-47D	breast:	n/a
31	chr12:120933318-120933368	ovcar-3	ovarian:	n/a
32	chr12:120933318-120933368	BE2_C	brain:	n/a
33	chr12:120933318-120933368	HIPEpiC	eye:	n/a
34	chr12:120933318-120933368	SK-N-SH_RA	brain:	n/a
35	chr12:120933318-120933368	HepG2	liver:	n/a
36	chr12:120933318-120933368	PFSK-1	brain:	n/a
37	chr12:120933318-120933368	BJ	skin:	n/a
38	chr12:120933318-120933368	AG04450	lung:	fetal
39	chr12:120933318-120933368	NHBE	bronchial:	n/a
40	chr12:120933318-120933368	NHDF-neo	bronchial:	n/a
41	chr12:120933318-120933368	HL-60	blood:	n/a
42	chr12:120933318-120933368	MCF10A-Er-Src	breast:	n/a
43	chr12:120933318-120933368	HMEC	breast:	n/a
44	chr12:120933318-120933368	SKMC	muscle:	n/a
45	chr12:120933318-120933368	IMR90	lung:	fetal
46	chr12:120933318-120933368	AoSMC	blood vessel:	n/a
47	chr12:120933318-120933368	HAEpiC	amniotic membrane:	n/a
48	chr12:120933318-120933368	SK-N-SH	brain:	n/a
49	chr12:120933318-120933368	HCF	heart:	n/a
50	chr12:120933318-120933368	GM12892	blood:	n/a

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
DYNLL1	CpG island
ENSG00000200795	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000122971	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000222601	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000110871	Chromatin interaction

rs_ID	r²[population]
rs12821493	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138250	1.00[ASN][1000 genomes]
rs34815312	1.00[ASN][1000 genomes]
rs35151295	1.00[ASN][1000 genomes]
rs35267083	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889470	1.00[ASN][1000 genomes]
rs55874815	1.00[ASN][1000 genomes]
rs55980956	1.00[ASN][1000 genomes]
rs56084677	1.00[ASN][1000 genomes]
rs56183824	1.00[ASN][1000 genomes]
rs56366632	1.00[ASN][1000 genomes]
rs73213106	1.00[ASN][1000 genomes]
rs73222778	1.00[ASN][1000 genomes]
rs73222780	1.00[ASN][1000 genomes]
rs73222784	1.00[ASN][1000 genomes]
rs73222786	1.00[ASN][1000 genomes]
rs73222794	1.00[ASN][1000 genomes]
rs73222795	1.00[ASN][1000 genomes]
rs73225003	1.00[ASN][1000 genomes]
rs73225012	1.00[ASN][1000 genomes]
rs73225023	1.00[ASN][1000 genomes]
rs73225093	1.00[ASN][1000 genomes]
rs73230347	1.00[ASN][1000 genomes]
rs73230349	1.00[ASN][1000 genomes]
rs73230352	1.00[ASN][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	chr12:120932600-120933400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:120932600-120933400	Flanking Active TSS	Hela-S3	cervix
4	chr12:120932600-120933400	Flanking Active TSS	K562	blood
5	chr12:120932600-120935000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:120932600-120935200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:120932600-120935400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:120932600-120935400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr12:120932600-120935400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr12:120932800-120933400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:120932800-120933400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:120932800-120933400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:120932800-120933400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:120932800-120933400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr12:120932800-120933400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr12:120932800-120933400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:120932800-120933400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr12:120932800-120933400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:120932800-120933400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:120932800-120933400	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr12:120932800-120933400	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr12:120932800-120933400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr12:120932800-120933400	Flanking Active TSS	Fetal Brain Female	brain
24	chr12:120932800-120933400	Flanking Active TSS	Fetal Heart	heart
25	chr12:120932800-120933400	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr12:120932800-120933400	Flanking Active TSS	Fetal Stomach	stomach
27	chr12:120932800-120933400	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr12:120932800-120933400	Flanking Active TSS	HSMM	muscle
29	chr12:120932800-120933400	Flanking Active TSS	NH-A	brain
30	chr12:120932800-120933400	Flanking Active TSS	Osteobl	bone
31	chr12:120932800-120933600	Flanking Active TSS	Dnd41	blood
32	chr12:120932800-120935000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr12:120932800-120935000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr12:120932800-120935200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr12:120932800-120935600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:120932800-120935600	Active TSS	Brain Substantia Nigra	brain
37	chr12:120932800-120936200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:120933000-120933400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:120933000-120933400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:120933000-120933400	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr12:120933000-120933400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr12:120933000-120933400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr12:120933000-120933400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr12:120933000-120933400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr12:120933000-120933400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:120933000-120933400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr12:120933000-120933400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr12:120933000-120933400	Flanking Active TSS	Colonic Mucosa	Colon
49	chr12:120933000-120933400	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr12:120933000-120933400	Flanking Active TSS	Esophagus	oesophagus

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