Variant report

Variant	rs570541729
Chromosome Location	chr7:127945855-127945856
allele	C/T
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	POLR2A	chr7:127945512-127946419	K562	blood:	n/a	n/a
2	POLR2A	chr7:127945508-127946971	K562	blood:	n/a	n/a
3	POLR2A	chr7:127945623-127945929	PFSK-1	brain:	n/a	n/a
4	CEBPB	chr7:127945691-127945856	A549	lung:	n/a	n/a
5	POLR2A	chr7:127945168-127946823	K562	blood:	n/a	n/a
6	POLR2A	chr7:127945547-127945956	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM28-3	chr7:127937738-127947816	NONHSAT123178
2	lnc-RBM28-3	chr7:127944240-127946359	NONHSAT123179

Variant related genes	Relation type
ENSG00000242261	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016669	chr7:127927963-127948122	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1017782	chr7:127928249-127946901	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1019036	chr7:127928441-127948122	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018630	chr7:127928441-127948604	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2764054	chr7:127928453-127948604	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv525319	chr7:127929271-127946173	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv971544	chr7:127945398-127950330	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3403194	chr7:127945462-127945866	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127924600-127950000	Weak transcription	Psoas Muscle	Psoas
2	chr7:127930800-127949200	Weak transcription	Fetal Kidney	kidney
3	chr7:127938800-127946000	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:127939400-127946200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:127939400-127962800	Weak transcription	Right Atrium	heart
6	chr7:127939600-127982200	Weak transcription	Stomach Mucosa	stomach
7	chr7:127940000-127946600	Weak transcription	Fetal Heart	heart
8	chr7:127940000-127980800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr7:127940200-127953000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:127940200-127953800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:127940200-127955600	Strong transcription	Fetal Stomach	stomach
12	chr7:127940400-127946200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:127940400-127955400	Strong transcription	Aorta	Aorta
14	chr7:127940400-127980000	Strong transcription	Stomach Smooth Muscle	stomach
15	chr7:127940600-127946200	Weak transcription	HepG2	liver
16	chr7:127940600-127980000	Strong transcription	Liver	Liver
17	chr7:127940800-127946000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:127940800-127946400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:127940800-127955200	Strong transcription	Fetal Intestine Small	intestine
20	chr7:127940800-127955400	Strong transcription	Lung	lung
21	chr7:127940800-127963800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:127940800-127971400	Strong transcription	Fetal Brain Female	brain
23	chr7:127941000-127946000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:127941000-127954400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:127941000-127960400	Strong transcription	Primary T cells from cord blood	blood
26	chr7:127941400-127946200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:127941400-127947400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:127941400-127955400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:127941400-127963400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:127941600-127979600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:127941600-127980000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:127941800-127946600	Weak transcription	NH-A	brain
33	chr7:127941800-127949800	Weak transcription	Small Intestine	intestine
34	chr7:127941800-127954400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:127941800-127955600	Strong transcription	Thymus	Thymus
36	chr7:127942000-127946000	Weak transcription	HUVEC	blood vessel
37	chr7:127942000-127948800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr7:127942000-127980400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:127942000-127980600	Strong transcription	Fetal Muscle Leg	muscle
40	chr7:127942600-127946000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr7:127942600-127979600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:127942800-127948400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:127943000-127961400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:127943000-127964800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:127943000-127969000	Strong transcription	Primary B cells from cord blood	blood
46	chr7:127943000-127979800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:127943000-127979800	Strong transcription	Fetal Intestine Large	intestine
48	chr7:127943000-127981200	Strong transcription	Dnd41	blood
49	chr7:127943000-127982000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:127943200-127946200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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