Variant report

Variant	rs11831381
Chromosome Location	chr12:56088349-56088350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56087401..56089684-chr12:56115216..56116747,2	MCF-7	breast:
2	chr12:56088092..56089949-chr12:56091933..56094235,2	MCF-7	breast:
3	chr12:56087825..56091107-chr12:56100020..56103608,4	K562	blood:
4	chr12:56075324..56077764-chr12:56086635..56089589,3	MCF-7	breast:
5	chr12:56087814..56089325-chr12:56099233..56101520,2	K562	blood:
6	chr12:56086304..56091654-chr12:56092487..56096506,6	K562	blood:

Variant related genes	Relation type
ENSG00000170439	Chromatin interaction
ENSG00000135424	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11829739	1.00[MEX][hapmap]

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	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv525231	chr12:56076919-56124332	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56075800-56100200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:56076000-56097600	Weak transcription	Gastric	stomach
3	chr12:56076000-56100200	Weak transcription	Ovary	ovary
4	chr12:56076400-56098400	Weak transcription	Fetal Brain Female	brain
5	chr12:56076800-56093200	Weak transcription	Fetal Heart	heart
6	chr12:56076800-56099800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:56077000-56089400	Weak transcription	HepG2	liver
8	chr12:56077600-56094200	Weak transcription	Psoas Muscle	Psoas
9	chr12:56077800-56094400	Weak transcription	Right Atrium	heart
10	chr12:56079000-56097800	Weak transcription	Thymus	Thymus
11	chr12:56080000-56089400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:56080600-56089800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:56080800-56094000	Weak transcription	Spleen	Spleen
14	chr12:56081000-56098800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:56082200-56089400	Weak transcription	Brain Angular Gyrus	brain
16	chr12:56082200-56094400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:56082200-56099000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:56085000-56090200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:56085000-56090800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:56085000-56091000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:56085000-56091600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr12:56085000-56091800	Strong transcription	HSMMtube	muscle
23	chr12:56085000-56092200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:56085000-56092200	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:56085000-56092600	Strong transcription	Left Ventricle	heart
26	chr12:56085000-56092600	Strong transcription	Right Ventricle	heart
27	chr12:56085000-56092800	Strong transcription	Osteobl	bone
28	chr12:56085000-56093000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:56085000-56093000	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:56085000-56093000	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:56085000-56093200	Strong transcription	HSMM	muscle
32	chr12:56085000-56093600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:56085000-56093800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:56085000-56094400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:56085000-56094600	Strong transcription	Colon Smooth Muscle	Colon
36	chr12:56085000-56095200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:56085200-56092600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:56085200-56093800	Strong transcription	Adipose Nuclei	Adipose
39	chr12:56085400-56089400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:56085400-56090600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:56085400-56095200	Strong transcription	Aorta	Aorta
42	chr12:56085600-56091200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:56086200-56090200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:56086200-56090200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:56086200-56091600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr12:56086400-56089000	Strong transcription	Brain Cingulate Gyrus	brain
47	chr12:56086400-56090200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:56086400-56091600	Strong transcription	NHLF	lung
49	chr12:56086400-56091800	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr12:56086400-56094600	Strong transcription	Fetal Stomach	stomach

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