Variant report

Variant	rs528513347
Chromosome Location	chr2:99553249-99553250
allele	C/G
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	FOS	chr2:99553161-99553311	MCF10A-Er-Src	breast:	n/a	chr2:99553204-99553215
2	FOS	chr2:99553129-99553383	MCF10A-Er-Src	breast:	n/a	chr2:99553204-99553215
3	SIN3A	chr2:99553064-99553943	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr2:99552076-99553329	ECC-1	luminal epithelium:	n/a	chr2:99552914-99552923
5	BACH1	chr2:99553086-99554164	H1-hESC	embryonic stem cell:	n/a	chr2:99554105-99554119
6	FOS	chr2:99553103-99553333	MCF10A-Er-Src	breast:	n/a	chr2:99553204-99553215
7	EGR1	chr2:99552499-99553441	HCT-116	colon:	n/a	chr2:99552768-99552781 chr2:99552769-99552779 chr2:99552769-99552780 chr2:99552820-99552829 chr2:99552693-99552707 chr2:99553406-99553415 chr2:99553128-99553141
8	EGR1	chr2:99552504-99553416	HCT-116	colon:	n/a	chr2:99552768-99552781 chr2:99552769-99552779 chr2:99552769-99552780 chr2:99552820-99552829 chr2:99552693-99552707 chr2:99553406-99553415 chr2:99553128-99553141
9	CTCF	chr2:99553100-99553250	MCF-7	breast:	n/a	n/a
10	EGR1	chr2:99552920-99553382	MCF-7	breast:	n/a	chr2:99553128-99553141
11	FOS	chr2:99553175-99553397	MCF10A-Er-Src	breast:	n/a	chr2:99553204-99553215
12	POU2F2	chr2:99553072-99553317	GM12891	blood:	n/a	chr2:99553155-99553170 chr2:99553159-99553167 chr2:99553153-99553174
13	ZBTB7A	chr2:99552710-99553343	ECC-1	luminal epithelium:	n/a	chr2:99552914-99552923

Variant related genes	Relation type
KIAA1211L	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv874697	chr2:99520608-99558970	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv834310	chr2:99533832-99709999	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv1007718	chr2:99542281-99729107	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3339215	chr2:99550420-99554818	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3412425	chr2:99551545-99553993	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99549400-99553800	Active TSS	Brain Anterior Caudate	brain
2	chr2:99550000-99553800	Active TSS	Brain Angular Gyrus	brain
3	chr2:99551200-99553800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:99551200-99554000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:99551400-99553800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
6	chr2:99551800-99553600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:99551800-99553600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:99551800-99553800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr2:99551800-99553800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:99551800-99554000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:99551800-99554000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:99552000-99553400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr2:99552000-99553600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:99552000-99553600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:99552000-99553600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:99552000-99553600	Bivalent/Poised TSS	Psoas Muscle	Psoas
17	chr2:99552000-99553600	Active TSS	Right Atrium	heart
18	chr2:99552000-99553800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:99552000-99553800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
20	chr2:99552000-99553800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:99552000-99553800	Active TSS	Gastric	stomach
22	chr2:99552200-99553400	Active TSS	Muscle Satellite Cultured Cells	--
23	chr2:99552200-99553400	Active TSS	Esophagus	oesophagus
24	chr2:99552200-99553400	Active TSS	A549	lung
25	chr2:99552200-99553400	Bivalent/Poised TSS	NHEK	skin
26	chr2:99552200-99553600	Bivalent/Poised TSS	HSMM	muscle
27	chr2:99552200-99553800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr2:99552200-99553800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr2:99552200-99554000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr2:99552200-99554000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr2:99552200-99554000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr2:99552400-99553600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:99552400-99553800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:99552400-99553800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
35	chr2:99552600-99553600	Enhancers	Liver	Liver
36	chr2:99552600-99553800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
37	chr2:99552800-99553600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:99552800-99553800	Bivalent Enhancer	Fetal Brain Male	brain
39	chr2:99552800-99553800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
40	chr2:99552800-99553800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr2:99552800-99554000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:99553000-99553400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr2:99553000-99553400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr2:99553000-99553400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:99553000-99553400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr2:99553000-99553400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
47	chr2:99553000-99553400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr2:99553000-99553400	Bivalent Enhancer	Fetal Heart	heart
49	chr2:99553000-99553400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr2:99553000-99553400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links