Variant report

Variant	rs542798270
Chromosome Location	chr12:121079519-121079520
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	REST	chr12:121079112-121079581	SK-N-SH	brain:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
2	REST	chr12:121078777-121079691	SK-N-SH	brain:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
3	CHD2	chr12:121079173-121079528	H1-hESC	embryonic stem cell:	n/a	chr12:121079176-121079183 chr12:121079220-121079230
4	RAD21	chr12:121079249-121079594	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:121079301-121079548	HepG2	liver:	n/a	chr12:121079471-121079484
6	REST	chr12:121078777-121079702	K562	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
7	REST	chr12:121078658-121079592	H1-hESC	embryonic stem cell:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
8	MAX	chr12:121078761-121079586	K562	blood:	n/a	n/a
9	RAD21	chr12:121079197-121079633	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr12:121078753-121079664	GM12878	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
11	REST	chr12:121078963-121079808	A549	lung:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
12	REST	chr12:121078902-121079676	PFSK-1	brain:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
13	REST	chr12:121078878-121079639	GM12878	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
14	REST	chr12:121078961-121079732	HCT-116	colon:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
15	REST	chr12:121079019-121079520	PANC-1	pancreas:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
16	REST	chr12:121079084-121079569	Hela-S3	cervix:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
17	CTCF	chr12:121079380-121079530	SK-N-SH_RA	brain:	n/a	chr12:121079471-121079484
18	REST	chr12:121078872-121079772	MCF-7	breast:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
19	MAX	chr12:121079009-121079574	A549	lung:	n/a	n/a
20	REST	chr12:121078903-121079745	ECC-1	luminal epithelium:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
21	REST	chr12:121078925-121079833	PANC-1	pancreas:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
22	TBP	chr12:121079177-121079587	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3AK20	chr12:121079004-121079684	MCF-7	breast:	n/a	n/a
24	ZNF143	chr12:121079161-121079540	H1-hESC	embryonic stem cell:	n/a	n/a
25	MXI1	chr12:121078791-121080242	IMR90	lung:	n/a	n/a
26	CTCF	chr12:121079332-121079561	H1-hESC	embryonic stem cell:	n/a	chr12:121079471-121079484
27	TEAD4	chr12:121079014-121079552	A549	lung:	n/a	n/a
28	REST	chr12:121078897-121079710	HCT-116	colon:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
29	REST	chr12:121078980-121079885	PANC-1	pancreas:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
30	REST	chr12:121078893-121079646	H1-hESC	embryonic stem cell:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
31	CTCF	chr12:121079282-121079664	H1-hESC	embryonic stem cell:	n/a	chr12:121079471-121079484
32	ZBTB7A	chr12:121079157-121079602	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr12:121079088-121079615	MCF-7	breast:	n/a	n/a
34	REST	chr12:121078625-121079761	HL-60	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
35	ZBTB7A	chr12:121079280-121079549	K562	blood:	n/a	n/a
36	REST	chr12:121078973-121079539	HepG2	liver:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
37	CTCF	chr12:121079420-121079570	HCM	heart:	n/a	chr12:121079471-121079484
38	TCF12	chr12:121078982-121079607	ECC-1	luminal epithelium:	n/a	n/a
39	E2F6	chr12:121079017-121079701	H1-hESC	embryonic stem cell:	n/a	chr12:121079481-121079488 chr12:121079477-121079488 chr12:121079480-121079489 chr12:121079477-121079488 chr12:121079150-121079159 chr12:121079477-121079488 chr12:121079176-121079183 chr12:121079479-121079489
40	SIN3AK20	chr12:121078966-121079738	MCF-7	breast:	n/a	n/a
41	MXI1	chr12:121079145-121079542	H1-hESC	embryonic stem cell:	n/a	n/a
42	REST	chr12:121078968-121079796	H1-neurons	neurons:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
43	TCF12	chr12:121079239-121079650	A549	lung:	n/a	n/a
44	MAZ	chr12:121079148-121079538	K562	blood:	n/a	n/a
45	REST	chr12:121078611-121080060	HL-60	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
46	CTCF	chr12:121079440-121079590	HAc	cerebellar:	n/a	chr12:121079471-121079484
47	MAX	chr12:121079046-121079597	H1-hESC	embryonic stem cell:	n/a	n/a
48	REST	chr12:121078836-121079714	PFSK-1	brain:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
49	CTCF	chr12:121079303-121079651	K562	blood:	n/a	chr12:121079471-121079484
50	BACH1	chr12:121079066-121079649	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121079482-121079532	HIPEpiC	eye:	n/a
2	chr12:121079482-121079532	HCF	heart:	n/a
3	chr12:121079482-121079532	SKMC	muscle:	n/a
4	chr12:121079482-121079532	HAEpiC	amniotic membrane:	n/a
5	chr12:121079482-121079532	HCT-116	colon:	n/a
6	chr12:121079482-121079532	HUVEC	blood vessel:	n/a
7	chr12:121079482-121079532	AG09319	gingival:	n/a
8	chr12:121079482-121079532	NHDF-neo	bronchial:	n/a
9	chr12:121079482-121079532	NB4	blood:	n/a
10	chr12:121079482-121079532	AoSMC	blood vessel:	n/a
11	chr12:121079482-121079532	BJ	skin:	n/a
12	chr12:121079482-121079532	LNCaP	prostate:	n/a
13	chr12:121079482-121079532	GM06990	blood:	n/a
14	chr12:121079482-121079532	U87	brain:	n/a
15	chr12:121079482-121079532	HL-60	blood:	n/a
16	chr12:121079482-121079532	HMEC	breast:	n/a
17	chr12:121079482-121079532	MCF10A-Er-Src	breast:	n/a
18	chr12:121079482-121079532	CMK	blood:	n/a
19	chr12:121079482-121079532	AG10803	skin:	n/a
20	chr12:121079482-121079532	MCF-7	breast:	n/a
21	chr12:121079482-121079532	Hela-S3	cervix:	n/a
22	chr12:121079482-121079532	T-47D	breast:	n/a
23	chr12:121079482-121079532	RPTEC	kidney:	n/a
24	chr12:121079482-121079532	SK-N-SH_RA	brain:	n/a
25	chr12:121079482-121079532	K562	blood:	n/a
26	chr12:121079482-121079532	IMR90	lung:	fetal
27	chr12:121079482-121079532	PrEC	prostate:	n/a
28	chr12:121079482-121079532	NH-A	brain:	n/a
29	chr12:121079482-121079532	GM19239	blood:	n/a
30	chr12:121079482-121079532	HepG2	liver:	n/a
31	chr12:121079482-121079532	AG04449	skin:	fetal
32	chr12:121079482-121079532	SK-N-MC	brain:	n/a
33	chr12:121079482-121079532	PANC-1	pancreas:	n/a
34	chr12:121079482-121079532	ECC-1	luminal epithelium:	n/a
35	chr12:121079482-121079532	HRE	kidney:	n/a
36	chr12:121079482-121079532	SK-N-SH	brain:	n/a
37	chr12:121079482-121079532	HPAEpiC	pulmonary alveolar:	n/a
38	chr12:121079482-121079532	NHBE	bronchial:	n/a
39	chr12:121079482-121079532	ovcar-3	ovarian:	n/a
40	chr12:121079482-121079532	SAEC	small airway:	n/a
41	chr12:121079482-121079532	GM12878	blood:	n/a
42	chr12:121079482-121079532	BE2_C	brain:	n/a
43	chr12:121079482-121079532	Jurkat	blood:	n/a
44	chr12:121079482-121079532	Hepatocyte	liver:	n/a
45	chr12:121079482-121079532	Caco-2	colon:	n/a
46	chr12:121079482-121079532	AG09309	skin:	n/a
47	chr12:121079482-121079532	HNPCEpiC	eye:	n/a
48	chr12:121079482-121079532	HEEpiC	esophagus:	n/a
49	chr12:121079482-121079532	NT2-D1	testis:	n/a
50	chr12:121079482-121079532	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121079422..121081795-chr12:121123452..121125131,2	K562	blood:
2	chr12:120729224..120730765-chr12:121078974..121080739,2	K562	blood:

Variant related genes	Relation type
ENSG00000256008	TF binding region
ENSG00000256008	CpG island
ENSG00000110917	Chromatin interaction
ENSG00000202538	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:115 , 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	chr12:121077800-121079600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:121077800-121079600	Flanking Bivalent TSS/Enh	Thymus	Thymus
5	chr12:121078000-121079600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:121078000-121079800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:121078200-121079600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:121078200-121079600	Active TSS	Aorta	Aorta
9	chr12:121078200-121079800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:121078400-121079600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr12:121078800-121079600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:121078800-121079600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
13	chr12:121078800-121079600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:121078800-121079600	Bivalent Enhancer	Lung	lung
15	chr12:121078800-121079600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
16	chr12:121078800-121079800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:121078800-121079800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
18	chr12:121079000-121079600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr12:121079000-121079600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
20	chr12:121079000-121079600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
21	chr12:121079000-121079600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
22	chr12:121079000-121079600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:121079000-121079600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:121079000-121079600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:121079000-121079600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
26	chr12:121079000-121079600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
27	chr12:121079000-121079600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
28	chr12:121079000-121079600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
29	chr12:121079000-121079600	Flanking Active TSS	Ovary	ovary
30	chr12:121079000-121079600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
31	chr12:121079000-121079600	Bivalent Enhancer	Small Intestine	intestine
32	chr12:121079000-121079600	Bivalent/Poised TSS	HSMM	muscle
33	chr12:121079000-121079600	Bivalent Enhancer	K562	blood
34	chr12:121079000-121079600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr12:121079000-121080000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:121079000-121080400	Bivalent Enhancer	Fetal Brain Male	brain
37	chr12:121079200-121079600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr12:121079200-121079600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr12:121079200-121079600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
40	chr12:121079200-121079600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:121079200-121079600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:121079200-121079600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:121079200-121079600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
44	chr12:121079200-121079600	Bivalent Enhancer	Colon Smooth Muscle	Colon
45	chr12:121079200-121079600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
46	chr12:121079200-121079600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr12:121079200-121079600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
48	chr12:121079200-121079600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
49	chr12:121079200-121079600	Flanking Bivalent TSS/Enh	HMEC	breast
50	chr12:121079200-121079800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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