Variant report

Variant	rs533177288
Chromosome Location	chr12:122460027-122460028
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	GATA3	chr12:122459542-122460179	A549	lung:	n/a	n/a
2	YY1	chr12:122459620-122460132	SK-N-SH_RA	brain:	n/a	chr12:122459910-122459921
3	POLR2A	chr12:122459622-122460093	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr12:122459552-122460120	HUVEC	blood vessel:	n/a	n/a
5	HDAC2	chr12:122459865-122460087	K562	blood:	n/a	n/a
6	FOXP2	chr12:122459437-122460060	PFSK-1	brain:	n/a	n/a
7	E2F6	chr12:122459709-122460131	A549	lung:	n/a	chr12:122459771-122459781 chr12:122459782-122459791
8	EP300	chr12:122459183-122460296	ECC-1	luminal epithelium:	n/a	chr12:122459768-122459784 chr12:122459759-122459775 chr12:122459807-122459816
9	POLR2A	chr12:122459539-122460135	Gliobla	brain:	n/a	n/a
10	POLR2A	chr12:122459566-122460710	H1-neurons	neurons:	n/a	n/a
11	PML	chr12:122459731-122460071	GM12878	blood:	n/a	n/a
12	MAX	chr12:122459688-122462184	A549	lung:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
13	POLR2A	chr12:122459504-122462244	K562	blood:	n/a	n/a
14	SIN3AK20	chr12:122459397-122460204	PANC-1	pancreas:	n/a	n/a
15	TAF1	chr12:122459591-122460129	K562	blood:	n/a	n/a
16	POLR2A	chr12:122459671-122460097	H1-hESC	embryonic stem cell:	n/a	n/a
17	GABPA	chr12:122459561-122460046	K562	blood:	n/a	chr12:122459781-122459795 chr12:122459781-122459792 chr12:122459802-122459811 chr12:122459783-122459792
18	POLR2A	chr12:122459601-122460031	A549	lung:	n/a	n/a
19	SIN3A	chr12:122458805-122460090	H1-hESC	embryonic stem cell:	n/a	chr12:122459458-122459471 chr12:122459021-122459030
20	MXI1	chr12:122458987-122462622	IMR90	lung:	n/a	n/a
21	POLR2A	chr12:122459444-122460585	ECC-1	luminal epithelium:	n/a	n/a
22	SIN3AK20	chr12:122459745-122460120	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr12:122459567-122460874	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr12:122459564-122460077	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:122459318-122460275	H1-neurons	neurons:	n/a	n/a
26	TAF1	chr12:122459579-122460888	H1-hESC	embryonic stem cell:	n/a	n/a
27	TCF7L2	chr12:122459648-122460127	PANC-1	pancreas:	n/a	n/a
28	GATA3	chr12:122459632-122460236	T-47D	breast:	n/a	n/a
29	GATA3	chr12:122459660-122460180	T-47D	breast:	n/a	n/a
30	TCF3	chr12:122459469-122460035	GM12878	blood:	n/a	n/a
31	POLR2A	chr12:122459594-122460585	K562	blood:	n/a	n/a
32	REST	chr12:122459727-122460084	A549	lung:	n/a	n/a
33	ETS1	chr12:122459759-122460047	A549	lung:	n/a	n/a
34	POLR2A	chr12:122459717-122460065	SK-N-SH	brain:	n/a	n/a
35	YY1	chr12:122459725-122460269	GM12878	blood:	n/a	chr12:122459910-122459921
36	CCNT2	chr12:122459411-122461031	K562	blood:	n/a	n/a
37	RAD21	chr12:122459737-122460079	IMR90	lung:	n/a	n/a
38	SMARCB1	chr12:122459312-122460079	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr12:122459734-122460064	PFSK-1	brain:	n/a	n/a
40	HEY1	chr12:122459574-122460128	K562	blood:	n/a	chr12:122459804-122459819 chr12:122459795-122459810 chr12:122459956-122459971 chr12:122459929-122459944 chr12:122459801-122459816 chr12:122459768-122459783
41	POLR2A	chr12:122459437-122460650	A549	lung:	n/a	n/a
42	YY1	chr12:122459646-122460171	GM12892	blood:	n/a	chr12:122459910-122459921
43	MAX	chr12:122459335-122460173	K562	blood:	n/a	chr12:122459589-122459599
44	TAF1	chr12:122459660-122460073	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr12:122459588-122460165	Hela-S3	cervix:	n/a	n/a
46	GATA3	chr12:122459569-122460152	MCF-7	breast:	n/a	n/a
47	POLR2A	chr12:122459537-122460055	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:122459592-122460100	ProgFib	skin:	n/a	n/a
49	HEY1	chr12:122459476-122460117	K562	blood:	n/a	chr12:122459804-122459819 chr12:122459795-122459810 chr12:122459956-122459971 chr12:122459929-122459944 chr12:122459801-122459816 chr12:122459768-122459783
50	REST	chr12:122459181-122460759	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122234286..122236802-chr12:122459405..122461225,2	K562	blood:
2	chr12:122457603..122461416-chr12:122608714..122613817,5	MCF-7	breast:
3	chr12:122240859..122242424-chr12:122459366..122461446,2	K562	blood:
4	chr12:122240924..122242640-chr12:122459339..122461446,2	K562	blood:
5	chr12:122459612..122462299-chr12:122516387..122519300,2	K562	blood:
6	chr12:122459811..122462052-chr12:122500619..122502679,2	K562	blood:
7	chr12:122459459..122461695-chr12:122710698..122713171,3	MCF-7	breast:
8	chr12:122230934..122233822-chr12:122459500..122463009,3	MCF-7	breast:
9	chr12:122237430..122243628-chr12:122458689..122463112,11	MCF-7	breast:
10	chr12:122356337..122361793-chr12:122458841..122462522,5	MCF-7	breast:
11	chr12:122370271..122373728-chr12:122458243..122461695,4	K562	blood:
12	chr12:122295977..122297667-chr12:122459919..122461653,2	K562	blood:
13	chr12:122458897..122461646-chr12:122516392..122519046,3	MCF-7	breast:
14	chr12:122459975..122462130-chr12:122612185..122613777,2	MCF-7	breast:
15	chr12:122369123..122373485-chr12:122458454..122462950,5	K562	blood:
16	chr12:122458978..122460744-chr12:122667663..122669885,2	MCF-7	breast:
17	chr12:122236783..122240484-chr12:122457021..122461932,5	MCF-7	breast:
18	chr12:122325656..122327392-chr12:122459155..122461282,2	K562	blood:
19	chr12:122459025..122460608-chr12:122685513..122688221,2	K562	blood:
20	chr12:122459684..122462243-chr12:122749527..122751932,2	MCF-7	breast:
21	chr12:122354300..122356847-chr12:122457161..122460061,2	K562	blood:
22	chr12:122457987..122461924-chr12:122515396..122519074,6	MCF-7	breast:
23	chr12:122459897..122461527-chr12:122480652..122483460,2	K562	blood:
24	chr12:122237036..122238620-chr12:122459729..122461311,2	K562	blood:
25	chr12:122459405..122462233-chr12:122501246..122503627,3	MCF-7	breast:
26	chr12:122455179..122457672-chr12:122458203..122460208,2	MCF-7	breast:
27	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:
28	chr12:122459539..122463256-chr12:122498402..122502892,4	MCF-7	breast:
29	chr12:122235276..122236948-chr12:122459921..122462305,2	MCF-7	breast:
30	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
31	chr12:122437989..122441020-chr12:122459413..122461657,5	MCF-7	breast:
32	chr12:122063733..122066437-chr12:122459262..122461186,2	MCF-7	breast:
33	chr12:122399815..122401399-chr12:122459120..122461080,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255856	TF binding region
ENSG00000212694	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000256546	Chromatin interaction
ENSG00000158113	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000182500	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000158104	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv3338715	chr12:122457569-122462467	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv3388753	chr12:122458594-122461542	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
6	esv3425442	chr12:122459394-122461942	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
7	esv3406676	chr12:122459519-122461517	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122458800-122461000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:122458800-122461200	Active TSS	A549	lung
3	chr12:122458800-122461800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:122459000-122460600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr12:122459000-122461000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:122459000-122461000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:122459000-122461800	Active TSS	Psoas Muscle	Psoas
8	chr12:122459000-122461800	Active TSS	Thymus	Thymus
9	chr12:122459000-122462000	Active TSS	Fetal Kidney	kidney
10	chr12:122459200-122461000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:122459200-122461000	Active TSS	NHLF	lung
12	chr12:122459200-122461200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:122459200-122461200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:122459200-122461200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:122459200-122461200	Active TSS	Brain Anterior Caudate	brain
16	chr12:122459200-122461600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:122459200-122461600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:122459200-122461600	Active TSS	Lung	lung
19	chr12:122459200-122461600	Active TSS	Right Ventricle	heart
20	chr12:122459200-122461800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:122459200-122461800	Active TSS	Fetal Brain Female	brain
22	chr12:122459200-122462000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:122459200-122462000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:122459200-122462000	Active TSS	Colon Smooth Muscle	Colon
25	chr12:122459200-122462000	Active TSS	Ovary	ovary
26	chr12:122459200-122462400	Active TSS	Aorta	Aorta
27	chr12:122459200-122462400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr12:122459400-122460200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:122459400-122460200	Active TSS	Placenta	Placenta
30	chr12:122459400-122460600	Active TSS	H1 Cell Line	embryonic stem cell
31	chr12:122459400-122460600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:122459400-122460800	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr12:122459400-122460800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr12:122459400-122460800	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
35	chr12:122459400-122460800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:122459400-122460800	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr12:122459400-122460800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:122459400-122460800	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr12:122459400-122460800	Weak transcription	Fetal Heart	heart
40	chr12:122459400-122460800	Active TSS	Fetal Muscle Trunk	muscle
41	chr12:122459400-122460800	Active TSS	Fetal Muscle Leg	muscle
42	chr12:122459400-122460800	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr12:122459400-122461000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr12:122459400-122461000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr12:122459400-122461000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr12:122459400-122461000	Active TSS	Primary B cells from peripheral blood	blood
47	chr12:122459400-122461000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr12:122459400-122461000	Active TSS	Duodenum Mucosa	Duodenum
49	chr12:122459400-122461000	Active TSS	Spleen	Spleen
50	chr12:122459400-122461000	Active TSS	Dnd41	blood

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