Variant report

Variant	rs552469077
Chromosome Location	chr7:104726833-104726834
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	chr7:104717490..104719449-chr7:104726208..104728832,2	K562	blood:
2	chr7:104622359..104624225-chr7:104726075..104728986,2	K562	blood:

Variant related genes	Relation type
ENSG00000005483	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	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	esv3377784	chr7:104726466-104728889	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3437504	chr7:104726816-104728364	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104678000-104812200	Strong transcription	Dnd41	blood
3	chr7:104680600-104727000	Strong transcription	Fetal Thymus	thymus
4	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:104681400-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr7:104699800-104738400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:104701200-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr7:104701600-104727000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr7:104702200-104727000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:104702200-104738200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:104702200-104747800	Weak transcription	Stomach Mucosa	stomach
15	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:104703200-104727000	Strong transcription	Liver	Liver
17	chr7:104703400-104727400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:104703600-104727000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:104703600-104759000	Strong transcription	Fetal Intestine Large	intestine
20	chr7:104703800-104735400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:104704000-104745200	Weak transcription	Psoas Muscle	Psoas
22	chr7:104704600-104727000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:104707000-104727000	Strong transcription	GM12878-XiMat	blood
25	chr7:104707000-104739200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:104707400-104727000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:104707400-104727000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:104707800-104727000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:104707800-104730000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:104709600-104744400	Weak transcription	Right Ventricle	heart
31	chr7:104710600-104727000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:104712000-104727000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:104712400-104727000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:104712400-104758800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:104712600-104736600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:104713200-104727000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr7:104713600-104735600	Strong transcription	Adipose Nuclei	Adipose
38	chr7:104714600-104727000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:104714800-104727000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:104714800-104727000	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:104715400-104731600	Weak transcription	Brain Substantia Nigra	brain
42	chr7:104718200-104750600	Weak transcription	Fetal Brain Male	brain
43	chr7:104718800-104728200	Strong transcription	Fetal Intestine Small	intestine
44	chr7:104718800-104728400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:104720600-104746200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:104720800-104739200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:104721400-104728400	Weak transcription	Hela-S3	cervix
48	chr7:104721400-104732600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr7:104721400-104744600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:104721600-104728800	Weak transcription	Placenta Amnion	Placenta Amnion

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