Variant report

Variant	rs527494319
Chromosome Location	chr3:134245753-134245754
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	CTCF	chr3:134245620-134245770	HRPEpiC	eye:	n/a	n/a

Variant related genes	Relation type
CEP63	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1002382	chr3:134239191-134358001	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	esv3407503	chr3:134244812-134247610	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134206600-134251600	Weak transcription	Colonic Mucosa	Colon
2	chr3:134213800-134246000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:134222000-134245800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:134224800-134245800	Weak transcription	Pancreas	Pancrea
5	chr3:134225000-134255800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:134225200-134256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:134230800-134251800	Weak transcription	Aorta	Aorta
8	chr3:134230800-134256000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:134231200-134255800	Weak transcription	Placenta	Placenta
10	chr3:134232600-134246000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:134236200-134256400	Weak transcription	A549	lung
12	chr3:134236200-134267000	Weak transcription	HSMM	muscle
13	chr3:134237000-134256000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:134237000-134256200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:134237200-134246800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:134241800-134245800	Weak transcription	Gastric	stomach
17	chr3:134242600-134251200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:134242600-134251600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:134242600-134256200	Weak transcription	NHEK	skin
20	chr3:134243400-134246000	Weak transcription	Thymus	Thymus
21	chr3:134243600-134246200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr3:134244600-134251400	Weak transcription	Dnd41	blood
23	chr3:134244600-134251600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr3:134244800-134251200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:134244800-134251600	Weak transcription	Liver	Liver
26	chr3:134244800-134251800	Weak transcription	Fetal Intestine Large	intestine
27	chr3:134244800-134256000	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:134244800-134269600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:134245000-134251800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:134245000-134253400	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:134245000-134255800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:134245000-134255800	Weak transcription	Fetal Intestine Small	intestine
33	chr3:134245200-134245800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:134245200-134245800	Weak transcription	Esophagus	oesophagus
35	chr3:134245200-134246200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr3:134245200-134246600	Strong transcription	Primary B cells from cord blood	blood
37	chr3:134245200-134246600	Strong transcription	Fetal Thymus	thymus
38	chr3:134245200-134251200	Weak transcription	Primary T cells from cord blood	blood
39	chr3:134245200-134251600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr3:134245200-134251800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr3:134245400-134245800	Weak transcription	Ovary	ovary
42	chr3:134245400-134246200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:134245400-134253000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr3:134245600-134251600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr3:134245600-134251800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:134245600-134251800	Weak transcription	Rectal Mucosa Donor 29	rectum

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