Variant report

Variant	rs575720476
Chromosome Location	chr3:49968036-49968037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49966780-49968209	HepG2	liver:	n/a	n/a
2	MXI1	chr3:49966578-49969002	SK-N-SH	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49892535..49894935-chr3:49965699..49968471,2	K562	blood:
2	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
3	chr3:49840341..49842910-chr3:49967049..49969753,2	K562	blood:
4	chr3:49965568..49971141-chr3:49975411..49979217,7	MCF-7	breast:
5	chr3:49966957..49970009-chr3:49975972..49978983,5	MCF-7	breast:
6	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
7	chr3:49966031..49968659-chr3:50125180..50127794,3	K562	blood:
8	chr3:49750537..49752087-chr3:49966182..49968764,2	K562	blood:
9	chr3:49966762..49969614-chr3:50125142..50129125,3	K562	blood:

No data

Variant related genes	Relation type
MON1A	TF binding region
ENSG00000003756	Chromatin interaction
ENSG00000164068	Chromatin interaction
ENSG00000183763	Chromatin interaction
ENSG00000004534	Chromatin interaction
ENSG00000185614	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49966000-49968200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr3:49966200-49968200	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr3:49966600-49968200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr3:49966600-49968200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr3:49967200-49968200	Active TSS	HepG2	liver
6	chr3:49967400-49968200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:49967400-49968200	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr3:49967400-49968200	Flanking Active TSS	Fetal Intestine Small	intestine
9	chr3:49967600-49968200	Active TSS	Primary hematopoietic stem cells	blood
10	chr3:49967600-49968200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:49967600-49968200	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr3:49967600-49968200	Enhancers	Esophagus	oesophagus
13	chr3:49967600-49968200	Enhancers	Fetal Heart	heart
14	chr3:49967600-49968200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr3:49967600-49968400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:49967600-49968400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:49967600-49968400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:49967600-49968400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:49967600-49968400	Weak transcription	Spleen	Spleen
20	chr3:49967600-49968800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:49967600-49969000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:49967600-49969200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:49967600-49969200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:49967600-49977400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:49967800-49968200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr3:49967800-49968200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr3:49967800-49968200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr3:49967800-49968200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr3:49967800-49968200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr3:49967800-49968200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr3:49967800-49968200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:49967800-49968200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:49967800-49968200	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr3:49967800-49968200	Enhancers	Colon Smooth Muscle	Colon
35	chr3:49967800-49968200	Enhancers	Fetal Muscle Trunk	muscle
36	chr3:49967800-49968200	Enhancers	Small Intestine	intestine
37	chr3:49967800-49968200	Enhancers	Dnd41	blood
38	chr3:49967800-49968200	Enhancers	HSMMtube	muscle
39	chr3:49967800-49968400	Enhancers	Brain Substantia Nigra	brain
40	chr3:49967800-49968600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:49967800-49968600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:49967800-49968600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:49967800-49968600	Enhancers	Fetal Muscle Leg	muscle
44	chr3:49967800-49968600	Enhancers	Placenta	Placenta
45	chr3:49967800-49968600	Enhancers	Fetal Thymus	thymus
46	chr3:49967800-49968600	Enhancers	Left Ventricle	heart
47	chr3:49967800-49968600	Enhancers	Stomach Mucosa	stomach
48	chr3:49967800-49968600	Enhancers	A549	lung
49	chr3:49967800-49968600	Enhancers	GM12878-XiMat	blood
50	chr3:49967800-49968800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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