Variant report

Variant	rs563242004
Chromosome Location	chr1:223931882-223931883
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:223930362-223932021	U87	brain:	n/a	n/a
2	POLR2A	chr1:223930402-223931907	A549	lung:	n/a	n/a
3	POLR2A	chr1:223931882-223931884	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:223930267-223932010	U87	brain:	n/a	n/a
5	POLR2A	chr1:223931699-223932113	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223907255..223908800-chr1:223930400..223932243,2	MCF-7	breast:
2	chr1:223931292..223932836-chr1:224033167..224035727,2	K562	blood:
3	chr1:223931041..223933395-chr1:223937050..223938620,2	K562	blood:
4	chr1:223908483..223912094-chr1:223930572..223933646,3	MCF-7	breast:

No data

Variant related genes	Relation type
CAPN2	TF binding region
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv520609	chr1:223931411-223947081	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv521758	chr1:223931411-223954080	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223915400-223933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:223915400-223933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:223915400-223936200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:223916600-223932600	Weak transcription	Fetal Brain Female	brain
5	chr1:223919200-223935600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:223919200-223936200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:223921200-223932800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:223921200-223936000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:223921600-223932800	Weak transcription	Liver	Liver
10	chr1:223921600-223936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:223921800-223933400	Weak transcription	Brain Angular Gyrus	brain
12	chr1:223921800-223935600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:223921800-223936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:223922200-223934600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:223922200-223935600	Weak transcription	Fetal Brain Male	brain
16	chr1:223922800-223934800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:223925200-223934600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:223925400-223934800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:223926800-223932800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:223927400-223933000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:223927800-223935400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:223928000-223932800	Weak transcription	Esophagus	oesophagus
23	chr1:223928000-223933200	Weak transcription	Psoas Muscle	Psoas
24	chr1:223928000-223935400	Weak transcription	Small Intestine	intestine
25	chr1:223928000-223935600	Weak transcription	Right Atrium	heart
26	chr1:223928000-223936400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:223928200-223933400	Weak transcription	K562	blood
28	chr1:223928400-223936200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:223928800-223932000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:223929000-223934800	Weak transcription	Fetal Kidney	kidney
31	chr1:223929400-223932200	Genic enhancers	A549	lung
32	chr1:223929800-223935200	Weak transcription	Fetal Heart	heart
33	chr1:223930000-223933000	Weak transcription	Stomach Mucosa	stomach
34	chr1:223930000-223935000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:223930200-223932800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:223930200-223934800	Strong transcription	Fetal Stomach	stomach
37	chr1:223930200-223935000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:223930200-223935400	Strong transcription	Fetal Intestine Small	intestine
39	chr1:223930200-223935600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:223930400-223934000	Genic enhancers	Lung	lung
41	chr1:223930400-223935200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:223930400-223935400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr1:223930400-223935800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:223930400-223935800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:223930400-223936000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:223930600-223932000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:223930600-223932000	Genic enhancers	Fetal Muscle Leg	muscle
48	chr1:223930600-223932000	Genic enhancers	Spleen	Spleen
49	chr1:223930600-223933400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:223930600-223934800	Strong transcription	NHEK	skin

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