Variant report

Variant	rs538815634
Chromosome Location	chr3:49979206-49979207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
2	chr3:49976300..49979550-chr3:50125389..50128777,3	K562	blood:
3	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
4	chr3:49823173..49825666-chr3:49976602..49979269,2	MCF-7	breast:
5	chr3:49965568..49971141-chr3:49975411..49979217,7	MCF-7	breast:
6	chr3:49978223..49979811-chr3:50003793..50005372,2	K562	blood:

Variant related genes	Relation type
ENSG00000003756	Chromatin interaction
ENSG00000176095	Chromatin interaction
ENSG00000164077	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	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	nsv1012903	chr3:49978765-50071878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49977800-49979400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:49978600-49979400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:49978600-49979400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:49978600-49980200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr3:49978600-49980600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr3:49978600-49980600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:49978600-49981200	Enhancers	Primary B cells from peripheral blood	blood
8	chr3:49978600-49981800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:49978600-49983000	Weak transcription	Lung	lung
10	chr3:49978600-49986400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:49978600-49986800	Weak transcription	Left Ventricle	heart
12	chr3:49978600-49988800	Weak transcription	Aorta	Aorta
13	chr3:49978800-49979400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr3:49978800-49979400	Enhancers	Brain Cingulate Gyrus	brain
15	chr3:49978800-49979400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr3:49978800-49979400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:49978800-49979400	Enhancers	Fetal Brain Male	brain
18	chr3:49978800-49979400	Genic enhancers	Fetal Intestine Small	intestine
19	chr3:49978800-49979400	Enhancers	Placenta	Placenta
20	chr3:49978800-49979400	Enhancers	Fetal Thymus	thymus
21	chr3:49978800-49979400	Enhancers	Thymus	Thymus
22	chr3:49978800-49979600	Enhancers	Primary hematopoietic stem cells	blood
23	chr3:49978800-49979600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr3:49978800-49979800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr3:49978800-49980000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:49978800-49980000	Enhancers	Primary B cells from cord blood	blood
27	chr3:49978800-49980000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:49978800-49980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:49978800-49980400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr3:49978800-49980400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:49978800-49980600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:49978800-49980600	Enhancers	Adipose Nuclei	Adipose
33	chr3:49978800-49981200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr3:49978800-49981200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr3:49978800-49982800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:49978800-49983200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:49978800-49983400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:49978800-49985400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:49978800-49986800	Weak transcription	Stomach Mucosa	stomach
40	chr3:49978800-49987000	Weak transcription	Small Intestine	intestine
41	chr3:49978800-49987400	Weak transcription	Brain Anterior Caudate	brain
42	chr3:49978800-49987400	Weak transcription	K562	blood
43	chr3:49978800-49987600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr3:49978800-49987600	Weak transcription	Brain Substantia Nigra	brain
45	chr3:49978800-49987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr3:49978800-49987600	Weak transcription	A549	lung
47	chr3:49978800-49987600	Weak transcription	HUVEC	blood vessel
48	chr3:49978800-49987800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr3:49978800-50000600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:49978800-50004800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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