Variant report

Variant	rs374682576
Chromosome Location	chr12:121079801-121079802
allele	C/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	REST	chr12:121078963-121079808	A549	lung:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
2	REST	chr12:121078925-121079833	PANC-1	pancreas:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
3	MXI1	chr12:121078791-121080242	IMR90	lung:	n/a	n/a
4	REST	chr12:121078980-121079885	PANC-1	pancreas:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
5	REST	chr12:121078611-121080060	HL-60	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
6	REST	chr12:121078204-121079915	ECC-1	luminal epithelium:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
7	REST	chr12:121078802-121080136	A549	lung:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
8	MAZ	chr12:121078810-121079901	IMR90	lung:	n/a	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
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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121079000-121080000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:121079000-121080400	Bivalent Enhancer	Fetal Brain Male	brain
3	chr12:121079200-121080000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr12:121079200-121080000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr12:121079200-121080000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
6	chr12:121079400-121080000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
7	chr12:121079400-121080000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr12:121079400-121080400	Bivalent Enhancer	Esophagus	oesophagus
9	chr12:121079400-121081200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:121079600-121080000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
11	chr12:121079600-121080000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr12:121079600-121080000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr12:121079600-121080000	Bivalent Enhancer	Fetal Intestine Small	intestine
14	chr12:121079600-121080000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr12:121079600-121080000	Bivalent Enhancer	HepG2	liver
16	chr12:121079600-121080200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr12:121079600-121080400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:121079600-121080400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
19	chr12:121079600-121080400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:121079600-121080600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:121079600-121086800	Weak transcription	Right Atrium	heart
22	chr12:121079800-121080000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
23	chr12:121079800-121080000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:121079800-121080000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr12:121079800-121080000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr12:121079800-121080000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
27	chr12:121079800-121080000	Bivalent Enhancer	Left Ventricle	heart
28	chr12:121079800-121080000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
29	chr12:121079800-121080200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr12:121079800-121080200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:121079800-121080200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:121079800-121080400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr12:121079800-121080400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:121079800-121080400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:121079800-121080400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
36	chr12:121079800-121080400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
37	chr12:121079800-121080400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
38	chr12:121079800-121080600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
39	chr12:121079800-121082000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain

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