Variant report

Variant	rs9472491
Chromosome Location	chr6:45413479-45413480
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45412401..45414815-chr6:45415090..45418058,3	K562	blood:
2	chr6:45334941..45336604-chr6:45412002..45413719,2	K562	blood:
3	chr6:45411583..45414532-chr6:45553284..45556066,2	MCF-7	breast:
4	chr6:45409035..45411043-chr6:45411792..45413843,2	MCF-7	breast:
5	chr6:45344606..45346855-chr6:45412406..45414659,2	K562	blood:
6	chr6:45387748..45391708-chr6:45411160..45414695,4	MCF-7	breast:
7	chr6:45403577..45407385-chr6:45411377..45414376,7	K562	blood:
8	chr6:45412131..45416669-chr6:45417302..45422043,11	K562	blood:
9	chr6:45344177..45348784-chr6:45412133..45417901,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction
ENSG00000271857	Chromatin interaction
ENSG00000124813	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs55930938	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45399400-45423600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:45405200-45417200	Weak transcription	Spleen	Spleen
3	chr6:45405600-45413800	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:45405600-45417400	Genic enhancers	Dnd41	blood
5	chr6:45407200-45413800	Weak transcription	Aorta	Aorta
6	chr6:45407200-45418200	Weak transcription	Gastric	stomach
7	chr6:45407200-45462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:45407400-45413600	Weak transcription	Primary T cells from cord blood	blood
9	chr6:45410600-45414000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:45411000-45413600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:45411200-45414000	Enhancers	Fetal Thymus	thymus
12	chr6:45411200-45416200	Weak transcription	Lung	lung
13	chr6:45411400-45414200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:45411800-45416200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr6:45412000-45413800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:45412000-45413800	Enhancers	NHEK	skin
17	chr6:45412000-45414200	Enhancers	Placenta	Placenta
18	chr6:45412000-45415600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:45412000-45416600	Enhancers	Small Intestine	intestine
20	chr6:45412200-45414200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:45412200-45414600	Enhancers	Primary B cells from cord blood	blood
22	chr6:45412200-45416000	Enhancers	Fetal Lung	lung
23	chr6:45412200-45416400	Enhancers	NH-A	brain
24	chr6:45412400-45413600	Enhancers	Colon Smooth Muscle	Colon
25	chr6:45412400-45414000	Enhancers	Primary hematopoietic stem cells	blood
26	chr6:45412400-45414000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr6:45412400-45414200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr6:45412400-45415200	Enhancers	HMEC	breast
29	chr6:45412400-45416000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:45412400-45416000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:45412400-45417600	Genic enhancers	Osteobl	bone
32	chr6:45412600-45416400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:45412600-45417200	Enhancers	Adipose Nuclei	Adipose
34	chr6:45412800-45413600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr6:45413000-45413800	Enhancers	HepG2	liver
36	chr6:45413000-45414000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr6:45413000-45414000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr6:45413000-45414000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr6:45413000-45414000	Enhancers	Fetal Muscle Leg	muscle
40	chr6:45413000-45414000	Enhancers	Fetal Stomach	stomach
41	chr6:45413000-45414200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr6:45413000-45414200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr6:45413000-45414200	Enhancers	Fetal Brain Female	brain
44	chr6:45413000-45414200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr6:45413000-45414800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:45413000-45415000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:45413000-45415000	Enhancers	Stomach Mucosa	stomach
48	chr6:45413000-45415200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr6:45413000-45415200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:45413000-45415800	Enhancers	Fetal Brain Male	brain

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