Variant report

Variant	rs532744066
Chromosome Location	chr8:119635017-119635018
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	EBF1	chr8:119634633-119635054	GM12878	blood:	n/a	chr8:119634896-119634907
2	ZNF143	chr8:119633978-119635125	Hela-S3	cervix:	n/a	chr8:119634451-119634460 chr8:119634449-119634458 chr8:119634449-119634467 chr8:119634231-119634249 chr8:119634453-119634472 chr8:119634238-119634247 chr8:119634240-119634249
3	GTF2F1	chr8:119634495-119635064	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr8:119633895-119635137	Raji	blood:	n/a	n/a
5	HCFC1	chr8:119633557-119635458	Hela-S3	cervix:	n/a	n/a
6	EP300	chr8:119634707-119635036	GM12878	blood:	n/a	n/a
7	CUX1	chr8:119634993-119635074	GM12878	blood:	n/a	n/a
8	EBF1	chr8:119634500-119635105	GM12878	blood:	n/a	chr8:119634896-119634907
9	CHD1	chr8:119634554-119635171	GM12878	blood:	n/a	chr8:119634634-119634644
10	WRNIP1	chr8:119634487-119635182	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SAMD12	TF binding region

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	nsv891413	chr8:119607281-119679668	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv1814789	chr8:119627671-119672134	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv465786	chr8:119627671-119767165	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv612048	chr8:119627671-119767165	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv972574	chr8:119634666-119651085	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119632600-119635200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:119633000-119635200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:119633200-119635200	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr8:119633400-119635200	Active TSS	Fetal Kidney	kidney
5	chr8:119633600-119635200	Active TSS	Brain Hippocampus Middle	brain
6	chr8:119634200-119635400	Active TSS	Stomach Smooth Muscle	stomach
7	chr8:119634600-119635200	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr8:119634600-119635200	Flanking Active TSS	Fetal Intestine Small	intestine
9	chr8:119634600-119635200	Flanking Active TSS	GM12878-XiMat	blood
10	chr8:119634600-119635200	Flanking Active TSS	Hela-S3	cervix
11	chr8:119634800-119635200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:119634800-119635200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:119634800-119635200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
14	chr8:119634800-119635200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
15	chr8:119634800-119635200	Active TSS	Primary hematopoietic stem cells	blood
16	chr8:119634800-119635200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:119634800-119635200	Enhancers	Pancreas	Pancrea
18	chr8:119634800-119635200	Enhancers	Spleen	Spleen
19	chr8:119634800-119635400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:119635000-119635200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr8:119635000-119635200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr8:119635000-119635200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:119635000-119635200	Enhancers	Primary B cells from peripheral blood	blood
24	chr8:119635000-119635200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr8:119635000-119635200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr8:119635000-119635200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:119635000-119635200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:119635000-119635200	Active TSS	Brain Angular Gyrus	brain
29	chr8:119635000-119635200	Active TSS	Brain Anterior Caudate	brain
30	chr8:119635000-119635200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr8:119635000-119635200	Enhancers	Duodenum Mucosa	Duodenum
32	chr8:119635000-119635200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr8:119635000-119635200	Enhancers	Stomach Mucosa	stomach
34	chr8:119635000-119635200	Enhancers	NHDF-Ad	bronchial
35	chr8:119635000-119635400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:119635000-119635400	Enhancers	HSMM	muscle
37	chr8:119635000-119650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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