Variant report

Variant	rs528172254
Chromosome Location	chr12:121079048-121079049
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	ZEB1	chr12:121078976-121079315	GM12878	blood:	n/a	chr12:121079139-121079148 chr12:121079136-121079149
2	REST	chr12:121078777-121079691	SK-N-SH	brain:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
3	UBTF	chr12:121078204-121079517	K562	blood:	n/a	n/a
4	REST	chr12:121078777-121079702	K562	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
5	REST	chr12:121078658-121079592	H1-hESC	embryonic stem cell:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
6	MAX	chr12:121078761-121079586	K562	blood:	n/a	n/a
7	REST	chr12:121078753-121079664	GM12878	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
8	REST	chr12:121078963-121079808	A549	lung:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
9	REST	chr12:121078902-121079676	PFSK-1	brain:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
10	REST	chr12:121078878-121079639	GM12878	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
11	REST	chr12:121078961-121079732	HCT-116	colon:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
12	REST	chr12:121079019-121079520	PANC-1	pancreas:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
13	POLR2A	chr12:121078750-121079311	H1-neurons	neurons:	n/a	n/a
14	REST	chr12:121078872-121079772	MCF-7	breast:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
15	E2F6	chr12:121078787-121079083	K562	blood:	n/a	n/a
16	REST	chr12:121078858-121079490	GM12878	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
17	MAX	chr12:121079009-121079574	A549	lung:	n/a	n/a
18	REST	chr12:121078903-121079745	ECC-1	luminal epithelium:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
19	REST	chr12:121078925-121079833	PANC-1	pancreas:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
20	CTCF	chr12:121078774-121079100	K562	blood:	n/a	n/a
21	SIN3AK20	chr12:121079004-121079684	MCF-7	breast:	n/a	n/a
22	MXI1	chr12:121078791-121080242	IMR90	lung:	n/a	n/a
23	TEAD4	chr12:121079014-121079552	A549	lung:	n/a	n/a
24	REST	chr12:121078897-121079710	HCT-116	colon:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
25	REST	chr12:121078980-121079885	PANC-1	pancreas:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
26	REST	chr12:121078893-121079646	H1-hESC	embryonic stem cell:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
27	CTCF	chr12:121078900-121079050	GM12864	blood:	n/a	n/a
28	PAX5	chr12:121078771-121079310	GM12892	blood:	n/a	n/a
29	POLR2A	chr12:121078576-121079212	H1-neurons	neurons:	n/a	n/a
30	REST	chr12:121078625-121079761	HL-60	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
31	REST	chr12:121078973-121079539	HepG2	liver:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
32	TCF12	chr12:121078982-121079607	ECC-1	luminal epithelium:	n/a	n/a
33	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
34	SIN3AK20	chr12:121078966-121079738	MCF-7	breast:	n/a	n/a
35	REST	chr12:121078968-121079796	H1-neurons	neurons:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
36	REST	chr12:121078611-121080060	HL-60	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
37	MAX	chr12:121079046-121079597	H1-hESC	embryonic stem cell:	n/a	n/a
38	REST	chr12:121078836-121079714	PFSK-1	brain:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
39	UBTF	chr12:121078266-121079514	K562	blood:	n/a	n/a
40	ZBTB7A	chr12:121079047-121079664	ECC-1	luminal epithelium:	n/a	n/a
41	SIN3A	chr12:121077666-121079638	H1-hESC	embryonic stem cell:	n/a	chr12:121078405-121078418 chr12:121079275-121079288
42	REST	chr12:121079006-121079448	HepG2	liver:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
43	CCNT2	chr12:121078132-121079332	K562	blood:	n/a	n/a
44	REST	chr12:121078971-121079583	HepG2	liver:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
45	REST	chr12:121079002-121079540	Hela-S3	cervix:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
46	CTCF	chr12:121078920-121079070	SK-N-SH_RA	brain:	n/a	n/a
47	SIN3AK20	chr12:121078999-121079563	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr12:121078936-121079561	ECC-1	luminal epithelium:	n/a	n/a
49	HMGN3	chr12:121078158-121079444	K562	blood:	n/a	n/a
50	ZNF263	chr12:121077610-121079764	HEK293-T-REx	kidney:	n/a	chr12:121079219-121079228 chr12:121079301-121079310

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:103 , 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	chr12:121077800-121079200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121077800-121079200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr12:121077800-121079400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr12:121077800-121079400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
7	chr12:121077800-121079600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:121077800-121079600	Flanking Bivalent TSS/Enh	Thymus	Thymus
9	chr12:121078000-121079200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:121078000-121079200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:121078000-121079200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:121078000-121079200	Active TSS	Pancreas	Pancrea
13	chr12:121078000-121079400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:121078000-121079400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr12:121078000-121079400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr12:121078000-121079400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr12:121078000-121079400	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr12:121078000-121079400	Active TSS	Rectal Smooth Muscle	rectum
19	chr12:121078000-121079400	Active TSS	Right Atrium	heart
20	chr12:121078000-121079400	Bivalent/Poised TSS	NHEK	skin
21	chr12:121078000-121079600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:121078000-121079800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:121078200-121079200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr12:121078200-121079200	Enhancers	Primary B cells from cord blood	blood
25	chr12:121078200-121079200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:121078200-121079200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:121078200-121079200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
28	chr12:121078200-121079200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
29	chr12:121078200-121079200	Active TSS	A549	lung
30	chr12:121078200-121079200	Active TSS	HepG2	liver
31	chr12:121078200-121079200	Active TSS	HMEC	breast
32	chr12:121078200-121079200	Bivalent/Poised TSS	NH-A	brain
33	chr12:121078200-121079400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr12:121078200-121079400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
35	chr12:121078200-121079600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:121078200-121079600	Active TSS	Aorta	Aorta
37	chr12:121078200-121079800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr12:121078400-121079200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
39	chr12:121078400-121079200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:121078400-121079400	Bivalent/Poised TSS	NHLF	lung
41	chr12:121078400-121079600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr12:121078800-121079200	Active TSS	Gastric	stomach
43	chr12:121078800-121079400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:121078800-121079400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr12:121078800-121079400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
46	chr12:121078800-121079400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:121078800-121079400	Flanking Active TSS	Right Ventricle	heart
48	chr12:121078800-121079400	Flanking Bivalent TSS/Enh	Dnd41	blood
49	chr12:121078800-121079600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:121078800-121079600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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