Variant report

Variant	rs12430306
Chromosome Location	chr13:51087661-51087662
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51085819..51089100-chr13:51090794..51093089,4	K562	blood:
2	chr13:51087212..51089990-chr13:51483181..51484978,2	K562	blood:
3	chr13:51066276..51068266-chr13:51086109..51088000,2	K562	blood:
4	chr13:50569721..50571547-chr13:51085881..51088680,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176124	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000136104	Chromatin interaction
ENSG00000233672	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12428570	1.00[AMR][1000 genomes]
rs1269265	0.87[AMR][1000 genomes]
rs9562961	0.87[AMR][1000 genomes]
rs9562969	0.87[AMR][1000 genomes]
rs9568395	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1040	chr13:51041591-51090903	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1835159	chr13:51061044-51091390	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1815534	chr13:51061044-51092946	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1816672	chr13:51061044-51092946	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv1830736	chr13:51061044-51092946	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1834352	chr13:51061044-51092946	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv1841390	chr13:51061044-51092946	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv1843375	chr13:51061044-51092946	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51084200-51093200	Weak transcription	Spleen	Spleen
2	chr13:51084400-51093000	Weak transcription	Lung	lung
3	chr13:51085400-51087800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:51085600-51089200	Enhancers	Fetal Intestine Small	intestine
5	chr13:51086000-51088000	Enhancers	Fetal Kidney	kidney
6	chr13:51086000-51088000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr13:51086000-51088200	Enhancers	Fetal Stomach	stomach
8	chr13:51086200-51093000	Weak transcription	Placenta	Placenta
9	chr13:51086400-51092400	Weak transcription	Pancreas	Pancrea
10	chr13:51086800-51087800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:51086800-51087800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:51086800-51087800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr13:51086800-51089200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:51086800-51089200	Enhancers	Fetal Intestine Large	intestine
15	chr13:51087000-51087800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr13:51087000-51088000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr13:51087000-51088000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr13:51087000-51088200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr13:51087000-51088200	Enhancers	HSMMtube	muscle
20	chr13:51087000-51088800	Weak transcription	Aorta	Aorta
21	chr13:51087000-51089200	Enhancers	Primary hematopoietic stem cells	blood
22	chr13:51087000-51089200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr13:51087000-51089400	Enhancers	Fetal Thymus	thymus
24	chr13:51087200-51087800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr13:51087200-51087800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr13:51087200-51087800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr13:51087200-51087800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr13:51087200-51087800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr13:51087200-51087800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr13:51087200-51087800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr13:51087200-51087800	Weak transcription	Colonic Mucosa	Colon
32	chr13:51087200-51087800	Enhancers	Fetal Muscle Trunk	muscle
33	chr13:51087200-51088000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:51087200-51088000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr13:51087200-51088000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr13:51087200-51088000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:51087200-51088000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr13:51087200-51088000	Enhancers	Brain Germinal Matrix	brain
39	chr13:51087200-51088000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr13:51087200-51088000	Enhancers	Stomach Mucosa	stomach
41	chr13:51087200-51088000	Enhancers	GM12878-XiMat	blood
42	chr13:51087200-51088000	Enhancers	HSMM	muscle
43	chr13:51087200-51088200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr13:51087200-51088400	Enhancers	Primary B cells from peripheral blood	blood
45	chr13:51087200-51088600	Enhancers	Colon Smooth Muscle	Colon
46	chr13:51087200-51088600	Enhancers	Fetal Muscle Leg	muscle
47	chr13:51087200-51088600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr13:51087200-51089200	Enhancers	Fetal Lung	lung
49	chr13:51087200-51089400	Enhancers	Thymus	Thymus
50	chr13:51087200-51092200	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links