Variant report

Variant	rs545718762
Chromosome Location	chr3:48692864-48692865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48631571..48635730-chr3:48691196..48694379,3	K562	blood:

Variant related genes	Relation type
ENSG00000114270	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv876763	chr3:48669648-48710310	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	esv3407141	chr3:48692473-48695321	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48673600-48693400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:48674000-48693400	Weak transcription	Fetal Brain Male	brain
3	chr3:48674000-48693600	Weak transcription	Brain Substantia Nigra	brain
4	chr3:48674400-48693600	Weak transcription	Gastric	stomach
5	chr3:48674800-48695600	Weak transcription	Hela-S3	cervix
6	chr3:48675000-48693600	Weak transcription	A549	lung
7	chr3:48675000-48694200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:48675000-48697200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:48680000-48695400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:48689400-48693000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:48690200-48693200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:48690600-48693600	Weak transcription	HepG2	liver
13	chr3:48691000-48693000	Enhancers	Spleen	Spleen
14	chr3:48691400-48693000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:48691400-48693000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:48691400-48693000	Weak transcription	Brain Anterior Caudate	brain
17	chr3:48691600-48693400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:48691800-48693000	Weak transcription	Brain Angular Gyrus	brain
19	chr3:48691800-48693000	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:48692000-48693000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:48692200-48693000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:48692200-48693200	Genic enhancers	Brain Germinal Matrix	brain
23	chr3:48692600-48693000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:48692600-48693000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:48692600-48693000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr3:48692600-48693000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr3:48692600-48693000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:48692600-48693000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:48692600-48693000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr3:48692600-48693200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr3:48692600-48693200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
32	chr3:48692600-48693200	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chr3:48692600-48693400	Enhancers	Lung	lung
34	chr3:48692800-48693000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
35	chr3:48692800-48693000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
36	chr3:48692800-48693000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr3:48692800-48693000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:48692800-48693000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:48692800-48693000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:48692800-48693000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr3:48692800-48693000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr3:48692800-48693000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr3:48692800-48693000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:48692800-48693000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:48692800-48693000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr3:48692800-48693000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr3:48692800-48693000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:48692800-48693000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:48692800-48693000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:48692800-48693000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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