Variant report

Variant	rs570347900
Chromosome Location	chr12:121079248-121079249
allele	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	ZEB1	chr12:121078976-121079315	GM12878	blood:	n/a	chr12:121079139-121079148 chr12:121079136-121079149
2	REST	chr12:121079112-121079581	SK-N-SH	brain:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
3	REST	chr12:121078777-121079691	SK-N-SH	brain:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
4	CHD2	chr12:121079173-121079528	H1-hESC	embryonic stem cell:	n/a	chr12:121079176-121079183 chr12:121079220-121079230
5	UBTF	chr12:121078204-121079517	K562	blood:	n/a	n/a
6	CHD1	chr12:121079127-121079482	H1-hESC	embryonic stem cell:	n/a	chr12:121079176-121079183 chr12:121079220-121079230
7	REST	chr12:121078777-121079702	K562	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
8	REST	chr12:121078658-121079592	H1-hESC	embryonic stem cell:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
9	MAX	chr12:121078761-121079586	K562	blood:	n/a	n/a
10	RAD21	chr12:121079197-121079633	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3AK20	chr12:121079094-121079461	K562	blood:	n/a	n/a
12	CBX3	chr12:121079185-121079499	K562	blood:	n/a	n/a
13	BHLHE40	chr12:121079155-121079493	K562	blood:	n/a	n/a
14	REST	chr12:121078753-121079664	GM12878	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
15	REST	chr12:121078963-121079808	A549	lung:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
16	REST	chr12:121078902-121079676	PFSK-1	brain:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
17	REST	chr12:121078878-121079639	GM12878	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
18	REST	chr12:121078961-121079732	HCT-116	colon:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
19	MYC	chr12:121079144-121079446	MCF-7	breast:	n/a	n/a
20	REST	chr12:121079195-121079460	SK-N-SH	brain:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
21	REST	chr12:121079019-121079520	PANC-1	pancreas:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
22	POLR2A	chr12:121078750-121079311	H1-neurons	neurons:	n/a	n/a
23	REST	chr12:121079084-121079569	Hela-S3	cervix:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
24	REST	chr12:121078872-121079772	MCF-7	breast:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
25	REST	chr12:121078858-121079490	GM12878	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
26	MAX	chr12:121079009-121079574	A549	lung:	n/a	n/a
27	MAX	chr12:121079164-121079510	K562	blood:	n/a	n/a
28	REST	chr12:121078903-121079745	ECC-1	luminal epithelium:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
29	E2F6	chr12:121079171-121079442	K562	blood:	n/a	chr12:121079176-121079183
30	REST	chr12:121078925-121079833	PANC-1	pancreas:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
31	CEBPB	chr12:121079181-121079367	H1-hESC	embryonic stem cell:	n/a	n/a
32	TBP	chr12:121079177-121079587	H1-hESC	embryonic stem cell:	n/a	n/a
33	REST	chr12:121079191-121079413	PFSK-1	brain:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
34	SIN3AK20	chr12:121079004-121079684	MCF-7	breast:	n/a	n/a
35	ZNF143	chr12:121079161-121079540	H1-hESC	embryonic stem cell:	n/a	n/a
36	MXI1	chr12:121078791-121080242	IMR90	lung:	n/a	n/a
37	HDAC2	chr12:121079179-121079426	K562	blood:	n/a	n/a
38	TEAD4	chr12:121079014-121079552	A549	lung:	n/a	n/a
39	REST	chr12:121078897-121079710	HCT-116	colon:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
40	REST	chr12:121078980-121079885	PANC-1	pancreas:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
41	REST	chr12:121078893-121079646	H1-hESC	embryonic stem cell:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
42	REST	chr12:121079114-121079446	GM12878	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
43	MAX	chr12:121079155-121079448	K562	blood:	n/a	n/a
44	ZBTB7A	chr12:121079157-121079602	ECC-1	luminal epithelium:	n/a	n/a
45	MAX	chr12:121079088-121079615	MCF-7	breast:	n/a	n/a
46	RCOR1	chr12:121079172-121079471	K562	blood:	n/a	n/a
47	PAX5	chr12:121078771-121079310	GM12892	blood:	n/a	n/a
48	REST	chr12:121078625-121079761	HL-60	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
49	REST	chr12:121078973-121079539	HepG2	liver:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
50	MXI1	chr12:121079119-121079507	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121077855..121079516-chr12:121124357..121126482,2	MCF-7	breast:
2	chr12:120729224..120730765-chr12:121078974..121080739,2	K562	blood:

Variant related genes	Relation type
ENSG00000256008	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv3346909	chr12:121077394-121079942	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3334570	chr12:121077719-121079967	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121077600-121079600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr12:121077600-121079600	Active TSS	Brain Angular Gyrus	brain
3	chr12:121077800-121079400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr12:121077800-121079400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr12:121077800-121079600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:121077800-121079600	Flanking Bivalent TSS/Enh	Thymus	Thymus
7	chr12:121078000-121079400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:121078000-121079400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:121078000-121079400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr12:121078000-121079400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr12:121078000-121079400	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr12:121078000-121079400	Active TSS	Rectal Smooth Muscle	rectum
13	chr12:121078000-121079400	Active TSS	Right Atrium	heart
14	chr12:121078000-121079400	Bivalent/Poised TSS	NHEK	skin
15	chr12:121078000-121079600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:121078000-121079800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr12:121078200-121079400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr12:121078200-121079400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
19	chr12:121078200-121079600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:121078200-121079600	Active TSS	Aorta	Aorta
21	chr12:121078200-121079800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr12:121078400-121079400	Bivalent/Poised TSS	NHLF	lung
23	chr12:121078400-121079600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr12:121078800-121079400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:121078800-121079400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr12:121078800-121079400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
27	chr12:121078800-121079400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:121078800-121079400	Flanking Active TSS	Right Ventricle	heart
29	chr12:121078800-121079400	Flanking Bivalent TSS/Enh	Dnd41	blood
30	chr12:121078800-121079600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:121078800-121079600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
32	chr12:121078800-121079600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:121078800-121079600	Bivalent Enhancer	Lung	lung
34	chr12:121078800-121079600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
35	chr12:121078800-121079800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:121078800-121079800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr12:121079000-121079400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:121079000-121079400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:121079000-121079400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:121079000-121079400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:121079000-121079400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:121079000-121079400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:121079000-121079400	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
44	chr12:121079000-121079400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:121079000-121079400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:121079000-121079400	Flanking Active TSS	Liver	Liver
47	chr12:121079000-121079400	Active TSS	Brain Anterior Caudate	brain
48	chr12:121079000-121079400	Flanking Active TSS	Esophagus	oesophagus
49	chr12:121079000-121079400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr12:121079000-121079400	Flanking Active TSS	Left Ventricle	heart

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