Variant report

Variant	rs553719721
Chromosome Location	chr2:179308755-179308756
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	POLR2A	chr2:179308366-179308918	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:179308749-179308824	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179308416..179311292-chr2:179342166..179344945,2	MCF-7	breast:

Variant related genes	Relation type
PRKRA	TF binding region
ENSG00000079150	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	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv1841610	chr2:179296271-179312613	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv1817469	chr2:179296271-179319391	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv3423634	chr2:179307957-179309282	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv9296	chr2:179308042-179315047	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	esv3458774	chr2:179308051-179309175	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3349146	chr2:179308073-179309168	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3458776	chr2:179308111-179309151	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
2	chr2:179280000-179310600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:179280200-179314600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:179290200-179312800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:179290800-179312000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:179290800-179312600	Strong transcription	Dnd41	blood
7	chr2:179291000-179311600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:179291000-179313200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:179291000-179313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:179291000-179313600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:179291200-179310400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:179291200-179312200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:179291200-179312800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:179291200-179312800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:179291200-179312800	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:179291200-179313600	Strong transcription	Fetal Thymus	thymus
17	chr2:179291200-179313800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:179291400-179311400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:179291400-179312600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:179291400-179312800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:179291400-179313400	Strong transcription	HSMM	muscle
22	chr2:179291400-179313600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr2:179291600-179312600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:179291600-179312800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:179291600-179312800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:179291600-179313200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:179291600-179313400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:179291600-179313600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr2:179291800-179313000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:179291800-179314000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:179292000-179314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:179292400-179312800	Weak transcription	Fetal Heart	heart
33	chr2:179293200-179312600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:179293600-179313000	Strong transcription	Liver	Liver
35	chr2:179293800-179310200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:179293800-179313600	Strong transcription	Adipose Nuclei	Adipose
37	chr2:179293800-179313800	Strong transcription	HUVEC	blood vessel
38	chr2:179294000-179313000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:179294200-179314200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:179295400-179311000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:179295400-179311600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:179295400-179312800	Strong transcription	HepG2	liver
43	chr2:179295400-179313600	Strong transcription	Fetal Intestine Large	intestine
44	chr2:179295400-179314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:179297000-179313200	Weak transcription	Right Atrium	heart
46	chr2:179298400-179310200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:179298600-179314400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:179299600-179310000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:179299600-179314800	Weak transcription	Small Intestine	intestine
50	chr2:179300000-179310400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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