Variant report

Variant	rs550070236
Chromosome Location	chr3:49979861-49979862
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
2	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:

Variant related genes	Relation type
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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49978600-49980200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr3:49978600-49980600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr3:49978600-49980600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:49978600-49981200	Enhancers	Primary B cells from peripheral blood	blood
5	chr3:49978600-49981800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:49978600-49983000	Weak transcription	Lung	lung
7	chr3:49978600-49986400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:49978600-49986800	Weak transcription	Left Ventricle	heart
9	chr3:49978600-49988800	Weak transcription	Aorta	Aorta
10	chr3:49978800-49980000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:49978800-49980000	Enhancers	Primary B cells from cord blood	blood
12	chr3:49978800-49980000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:49978800-49980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:49978800-49980400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr3:49978800-49980400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:49978800-49980600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:49978800-49980600	Enhancers	Adipose Nuclei	Adipose
18	chr3:49978800-49981200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr3:49978800-49981200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr3:49978800-49982800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:49978800-49983200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:49978800-49983400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:49978800-49985400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:49978800-49986800	Weak transcription	Stomach Mucosa	stomach
25	chr3:49978800-49987000	Weak transcription	Small Intestine	intestine
26	chr3:49978800-49987400	Weak transcription	Brain Anterior Caudate	brain
27	chr3:49978800-49987400	Weak transcription	K562	blood
28	chr3:49978800-49987600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:49978800-49987600	Weak transcription	Brain Substantia Nigra	brain
30	chr3:49978800-49987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:49978800-49987600	Weak transcription	A549	lung
32	chr3:49978800-49987600	Weak transcription	HUVEC	blood vessel
33	chr3:49978800-49987800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr3:49978800-50000600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:49978800-50004800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:49978800-50009600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:49978800-50009600	Weak transcription	Fetal Kidney	kidney
38	chr3:49978800-50041000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr3:49979000-49980000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:49979000-49980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:49979000-49980000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:49979000-49980000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:49979000-49980000	Weak transcription	Liver	Liver
44	chr3:49979000-49980000	Weak transcription	Brain Angular Gyrus	brain
45	chr3:49979000-49980000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:49979000-49980200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:49979000-49980400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:49979000-49980400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:49979000-49980400	Enhancers	HepG2	liver
50	chr3:49979000-49980800	Weak transcription	Fetal Stomach	stomach

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