Variant report

Variant	rs12246223
Chromosome Location	chr10:45465827-45465828
allele	A/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	POLR2A	chr10:45458224-45466240	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:45465514-45465907	HepG2	liver:	n/a	n/a
3	BHLHE40	chr10:45465551-45465846	K562	blood:	n/a	n/a

Variant related genes	Relation type
RASSF4	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12246550	0.86[AFR][1000 genomes]
rs12258351	1.00[AMR][1000 genomes]
rs12263839	1.00[AMR][1000 genomes]
rs56244069	1.00[AMR][1000 genomes]
rs61203275	1.00[AMR][1000 genomes]
rs74128118	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128119	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128177	1.00[AMR][1000 genomes]
rs74128187	1.00[AMR][1000 genomes]
rs74128190	1.00[AMR][1000 genomes]
rs74128194	1.00[AMR][1000 genomes]
rs74131510	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1035235	chr10:45442303-45467948	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv526734	chr10:45458485-45492054	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr10:45456400-45466200	Weak transcription	Aorta	Aorta
2	chr10:45456800-45466600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr10:45460000-45470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:45460400-45469800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr10:45460600-45466200	Weak transcription	Fetal Brain Female	brain
6	chr10:45461200-45466000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr10:45461200-45468200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr10:45461400-45467000	Weak transcription	Brain Germinal Matrix	brain
9	chr10:45461400-45468400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:45461400-45468600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr10:45461400-45468800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr10:45461600-45468400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:45461600-45468600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:45461800-45466200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:45462000-45468400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr10:45462000-45469800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:45462200-45468600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr10:45462800-45468400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr10:45462800-45469600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:45463000-45466600	Weak transcription	Fetal Intestine Large	intestine
21	chr10:45463600-45468400	Strong transcription	Fetal Intestine Small	intestine
22	chr10:45464000-45466200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:45464000-45468600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr10:45464200-45466000	Genic enhancers	Pancreas	Pancrea
25	chr10:45464200-45466800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:45464200-45467000	Genic enhancers	Lung	lung
27	chr10:45464200-45467000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr10:45464200-45468600	Weak transcription	Stomach Mucosa	stomach
29	chr10:45464200-45469400	Weak transcription	NHDF-Ad	bronchial
30	chr10:45464200-45469800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:45464200-45469800	Weak transcription	Osteobl	bone
32	chr10:45464400-45467000	Weak transcription	HSMM	muscle
33	chr10:45464400-45467600	Genic enhancers	Placenta	Placenta
34	chr10:45464400-45467800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:45464400-45469800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr10:45464600-45466000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:45464600-45466800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:45464600-45467400	Strong transcription	Gastric	stomach
39	chr10:45464600-45468000	Strong transcription	HepG2	liver
40	chr10:45464600-45468200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr10:45464600-45468400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr10:45464600-45469000	Weak transcription	Small Intestine	intestine
43	chr10:45464600-45469200	Weak transcription	Fetal Lung	lung
44	chr10:45464600-45469400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr10:45464600-45469600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr10:45464600-45469600	Weak transcription	Fetal Brain Male	brain
47	chr10:45464600-45470000	Weak transcription	Fetal Kidney	kidney
48	chr10:45464600-45470000	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr10:45464800-45466200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr10:45464800-45468000	Weak transcription	Fetal Heart	heart

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