Variant report

Variant	rs573891788
Chromosome Location	chr7:39805625-39805626
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:39805614-39806111	SK-N-SH_RA	brain:	n/a	chr7:39805935-39805949 chr7:39805702-39805710

Variant related genes	Relation type
RNU6-719P	TF binding region

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	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv970820	chr7:39797964-39839303	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv970988	chr7:39804754-39819869	Strong transcription Weak transcription Enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39774200-39807400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:39775800-39807000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr7:39775800-39811200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:39776600-39820400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:39782400-39809000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:39785000-39831800	Weak transcription	Primary B cells from cord blood	blood
7	chr7:39789600-39807200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:39794000-39830800	Weak transcription	Pancreas	Pancrea
9	chr7:39794200-39820800	Weak transcription	Ovary	ovary
10	chr7:39794200-39837400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:39794600-39808800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:39794600-39810200	Weak transcription	Fetal Stomach	stomach
13	chr7:39794600-39830800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:39795200-39807400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:39795400-39813000	Weak transcription	GM12878-XiMat	blood
16	chr7:39795400-39833400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:39795800-39811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:39798000-39807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:39798000-39811800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:39798200-39808200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:39798200-39820800	Weak transcription	Esophagus	oesophagus
22	chr7:39798200-39831000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:39798400-39807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:39798400-39810200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:39798400-39830800	Weak transcription	Fetal Intestine Small	intestine
26	chr7:39798600-39807200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:39799000-39821200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:39799800-39820400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:39801600-39807200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:39801600-39810800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:39801600-39820800	Weak transcription	Placenta	Placenta
32	chr7:39801600-39831600	Weak transcription	Gastric	stomach
33	chr7:39801600-39833600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:39801800-39831000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr7:39801800-39831400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:39802000-39830800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:39802000-39835200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:39802200-39812000	Weak transcription	Fetal Intestine Large	intestine
39	chr7:39802600-39807000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:39802600-39807000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:39802600-39812400	Weak transcription	NH-A	brain
42	chr7:39802600-39820200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:39802600-39821200	Weak transcription	Adipose Nuclei	Adipose
44	chr7:39802600-39833000	Weak transcription	Dnd41	blood
45	chr7:39802800-39807000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:39802800-39812400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:39802800-39830800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:39802800-39835000	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:39803000-39807000	Weak transcription	Thymus	Thymus
50	chr7:39803000-39809000	Weak transcription	HSMM	muscle

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