Variant report

Variant	rs368441979
Chromosome Location	chr12:122688053-122688054
allele	A/G/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	chr12:122687742-122689281	H1-neurons	neurons:	n/a	n/a
2	TEAD4	chr12:122687757-122688168	K562	blood:	n/a	n/a
3	MXI1	chr12:122687489-122689016	SK-N-SH	brain:	n/a	chr12:122688411-122688426
4	E2F6	chr12:122687757-122688605	A549	lung:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
5	MXI1	chr12:122687720-122688682	IMR90	lung:	n/a	chr12:122688411-122688426
6	POLR2A	chr12:122687808-122688518	ECC-1	luminal epithelium:	n/a	n/a
7	STAT3	chr12:122687811-122688150	MCF10A-Er-Src	breast:	n/a	chr12:122688008-122688019 chr12:122688096-122688108
8	ZNF263	chr12:122687739-122688118	HEK293-T-REx	kidney:	n/a	chr12:122688080-122688089
9	MYC	chr12:122687881-122688483	MCF-7	breast:	n/a	chr12:122688247-122688257
10	POLR2A	chr12:122687764-122688498	A549	lung:	n/a	n/a
11	REST	chr12:122687896-122688091	K562	blood:	n/a	n/a
12	EGR1	chr12:122687767-122688470	ECC-1	luminal epithelium:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
13	EP300	chr12:122687835-122688199	SK-N-SH_RA	brain:	n/a	n/a
14	POLR2A	chr12:122687823-122688539	MCF-7	breast:	n/a	n/a
15	ETS1	chr12:122687853-122688239	K562	blood:	n/a	chr12:122688203-122688214
16	EGR1	chr12:122687754-122688386	K562	blood:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
17	HEY1	chr12:122687787-122688186	K562	blood:	n/a	n/a
18	POLR2A	chr12:122687894-122688443	ProgFib	skin:	n/a	n/a
19	MAX	chr12:122687673-122688732	A549	lung:	n/a	chr12:122688247-122688257
20	FOXP2	chr12:122687789-122688141	SK-N-MC	brain:	n/a	n/a
21	SIN3AK20	chr12:122687811-122688202	K562	blood:	n/a	n/a
22	MAX	chr12:122687708-122688608	HepG2	liver:	n/a	chr12:122688247-122688257
23	EP300	chr12:122687819-122688154	HepG2	liver:	n/a	n/a
24	ELK1	chr12:122687883-122688093	K562	blood:	n/a	n/a
25	SP1	chr12:122687728-122688268	A549	lung:	n/a	chr12:122688247-122688256 chr12:122688217-122688226 chr12:122688248-122688257 chr12:122688246-122688258 chr12:122688216-122688225 chr12:122688246-122688258 chr12:122688247-122688257 chr12:122688053-122688065 chr12:122688216-122688225 chr12:122688247-122688261 chr12:122688216-122688226 chr12:122688199-122688209 chr12:122688247-122688257
26	MAX	chr12:122687687-122688755	ECC-1	luminal epithelium:	n/a	chr12:122688247-122688257
27	TCF12	chr12:122687587-122688190	A549	lung:	n/a	n/a
28	MAX	chr12:122687687-122688668	K562	blood:	n/a	chr12:122688247-122688257
29	MAX	chr12:122687694-122688634	H1-hESC	embryonic stem cell:	n/a	chr12:122688247-122688257
30	EGR1	chr12:122687781-122688283	K562	blood:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
31	POLR2A	chr12:122687908-122688092	HUVEC	blood vessel:	n/a	n/a
32	SP1	chr12:122687768-122688166	A549	lung:	n/a	chr12:122688053-122688065
33	CREB1	chr12:122687756-122688188	A549	lung:	n/a	n/a
34	POLR2A	chr12:122687782-122688511	MCF-7	breast:	n/a	n/a
35	EGR1	chr12:122687895-122688125	GM12878	blood:	n/a	chr12:122687955-122687969 chr12:122688022-122688033 chr12:122687989-122688003 chr12:122688021-122688034
36	POLR2A	chr12:122687931-122688452	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr12:122687832-122688181	A549	lung:	n/a	n/a
38	STAT3	chr12:122687821-122688196	MCF10A-Er-Src	breast:	n/a	chr12:122688008-122688019 chr12:122688096-122688108
39	EP300	chr12:122687754-122688268	T-47D	breast:	n/a	n/a
40	MAZ	chr12:122687857-122688444	K562	blood:	n/a	chr12:122688247-122688257
41	EP300	chr12:122687814-122688298	T-47D	breast:	n/a	n/a
42	CBX3	chr12:122687726-122688148	K562	blood:	n/a	n/a
43	EGR1	chr12:122687725-122688395	ECC-1	luminal epithelium:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
44	MAX	chr12:122687713-122688185	SK-N-SH	brain:	n/a	n/a
45	E2F6	chr12:122687720-122688502	H1-hESC	embryonic stem cell:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
46	TAF1	chr12:122687761-122688579	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr12:122687690-122688609	A549	lung:	n/a	chr12:122688247-122688257
48	POLR2A	chr12:122687705-122688325	PFSK-1	brain:	n/a	n/a
49	CCNT2	chr12:122687951-122688540	K562	blood:	n/a	n/a
50	E2F4	chr12:122687870-122688122	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
2	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
3	chr12:122459025..122460608-chr12:122685513..122688221,2	K562	blood:
4	chr12:122614284..122615813-chr12:122686761..122688798,2	MCF-7	breast:
5	chr12:122612652..122615876-chr12:122685490..122688136,3	K562	blood:
6	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:
7	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:

Variant related genes	Relation type
B3GNT4	TF binding region
ENSG00000110987	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000175727	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv3363771	chr12:122687274-122690547	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122687400-122688200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
2	chr12:122687400-122688600	Active TSS	Brain Hippocampus Middle	brain
3	chr12:122687400-122688600	Active TSS	K562	blood
4	chr12:122687400-122689200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:122687400-122689200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
6	chr12:122687400-122689600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:122687400-122690000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr12:122687600-122688200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:122687600-122688200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:122687600-122688200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:122687600-122688200	Bivalent/Poised TSS	Fetal Brain Male	brain
12	chr12:122687600-122688200	Bivalent/Poised TSS	Fetal Kidney	kidney
13	chr12:122687600-122688200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
14	chr12:122687600-122688400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:122687600-122688400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:122687600-122688400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:122687600-122688400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
18	chr12:122687600-122688400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr12:122687600-122688600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr12:122687600-122688600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:122687600-122688600	Active TSS	Brain Substantia Nigra	brain
22	chr12:122687600-122688600	Bivalent/Poised TSS	Fetal Stomach	stomach
23	chr12:122687600-122688600	Bivalent/Poised TSS	Psoas Muscle	Psoas
24	chr12:122687600-122688600	Active TSS	A549	lung
25	chr12:122687600-122688600	Bivalent/Poised TSS	HSMM	muscle
26	chr12:122687600-122688600	Bivalent/Poised TSS	NH-A	brain
27	chr12:122687600-122688600	Active TSS	NHLF	lung
28	chr12:122687600-122688800	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr12:122687600-122688800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr12:122687600-122689000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:122687600-122689000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:122687600-122689000	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr12:122687600-122689000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr12:122687600-122689200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr12:122687600-122689200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:122687600-122689200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:122687600-122689200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr12:122687600-122689200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr12:122687600-122689200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:122687600-122689200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr12:122687600-122689200	Bivalent/Poised TSS	HepG2	liver
42	chr12:122687600-122689400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr12:122687600-122689400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr12:122687600-122689400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:122687800-122688400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:122687800-122688400	Active TSS	Gastric	stomach
47	chr12:122687800-122688400	Bivalent/Poised TSS	Left Ventricle	heart
48	chr12:122687800-122688400	Bivalent/Poised TSS	HUVEC	blood vessel
49	chr12:122687800-122688400	Bivalent/Poised TSS	NHDF-Ad	bronchial
50	chr12:122687800-122688600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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