Variant report

Variant	rs3497
Chromosome Location	chr12:46579388-46579389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46576985..46579984-chr12:46581597..46583636,2	K562	blood:
2	chr12:46573740..46577204-chr12:46578047..46580277,3	K562	blood:
3	chr12:46575058..46579580-chr12:46659887..46664284,8	MCF-7	breast:
4	chr12:46575837..46582939-chr12:46590012..46593799,8	MCF-7	breast:
5	chr12:46550250..46552499-chr12:46577718..46580199,2	MCF-7	breast:
6	chr12:46578212..46580803-chr12:46763637..46766584,3	MCF-7	breast:
7	chr12:46568418..46569925-chr12:46578922..46580790,2	K562	blood:
8	chr12:46578378..46580209-chr12:46659476..46662474,3	MCF-7	breast:
9	chr12:46525047..46527243-chr12:46579285..46581012,2	MCF-7	breast:
10	chr12:46579159..46580798-chr12:46606173..46608442,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11183385	0.85[JPT][hapmap];0.95[MKK][hapmap]
rs12581511	0.85[JPT][hapmap]
rs3742057	0.85[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826360	chr12:46515374-46598243	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3497	ARID2	cis	parietal	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46565000-46581000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:46569000-46580600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:46569000-46589000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:46572200-46580200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:46572200-46588200	Weak transcription	HUVEC	blood vessel
6	chr12:46572400-46580600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:46572400-46588200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:46572600-46579600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:46572600-46581000	Weak transcription	Small Intestine	intestine
10	chr12:46572600-46589000	Weak transcription	Colonic Mucosa	Colon
11	chr12:46572600-46589000	Weak transcription	Dnd41	blood
12	chr12:46572800-46588800	Weak transcription	Aorta	Aorta
13	chr12:46574000-46581200	Weak transcription	Left Ventricle	heart
14	chr12:46574000-46589000	Weak transcription	Lung	lung
15	chr12:46574200-46581000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:46574200-46582400	Weak transcription	Brain Germinal Matrix	brain
17	chr12:46574200-46586800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:46574200-46588400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:46574200-46588400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:46574200-46588800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:46574400-46588800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:46574600-46580000	Weak transcription	A549	lung
23	chr12:46574600-46584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:46574600-46588800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:46574600-46588800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:46574800-46581000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:46574800-46581000	Weak transcription	HMEC	breast
28	chr12:46574800-46582400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:46574800-46588000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:46574800-46588800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:46575000-46581000	Weak transcription	Fetal Stomach	stomach
32	chr12:46575000-46588400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:46575600-46581000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:46575600-46581200	Weak transcription	Pancreas	Pancrea
35	chr12:46575800-46581000	Weak transcription	Placenta	Placenta
36	chr12:46575800-46581200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:46575800-46583600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr12:46576000-46579600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:46576000-46581000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:46576000-46581000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:46576200-46580600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:46577000-46580600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:46577400-46588600	Weak transcription	Fetal Brain Female	brain
44	chr12:46577600-46583800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:46577800-46579600	Enhancers	Primary B cells from peripheral blood	blood
46	chr12:46577800-46579800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:46577800-46588200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:46578000-46579800	Enhancers	Primary B cells from cord blood	blood
49	chr12:46578000-46580800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:46578000-46581000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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