Variant report

Variant	rs12308581
Chromosome Location	chr12:50816834-50816835
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50797471..50799671-chr12:50813461..50817013,3	K562	blood:
2	chr12:50811830..50813752-chr12:50815622..50818052,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12297492	0.86[AFR][1000 genomes]
rs12310232	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
7	nsv469376	chr12:50792846-50856613	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	nsv558841	chr12:50792846-50856613	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	nsv470291	chr12:50792846-50858820	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50795400-50819400	Weak transcription	Spleen	Spleen
2	chr12:50796000-50819400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:50796800-50823200	Weak transcription	HSMMtube	muscle
4	chr12:50796800-50824000	Weak transcription	Fetal Brain Female	brain
5	chr12:50796800-50832600	Weak transcription	Brain Substantia Nigra	brain
6	chr12:50797000-50821800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:50797000-50822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:50797000-50822600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:50797200-50823800	Weak transcription	NH-A	brain
10	chr12:50797600-50822800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:50797600-50826200	Weak transcription	NHDF-Ad	bronchial
12	chr12:50797600-50826800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:50797600-50829600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:50798200-50819400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:50798400-50822400	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:50798400-50824000	Weak transcription	Fetal Kidney	kidney
17	chr12:50799000-50818800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:50803200-50823200	Weak transcription	Small Intestine	intestine
19	chr12:50805800-50818600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:50806400-50819200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:50807200-50819400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:50807200-50824000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:50807400-50822600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:50808200-50824000	Weak transcription	Brain Angular Gyrus	brain
25	chr12:50808400-50818800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:50808600-50819000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
28	chr12:50810000-50819400	Weak transcription	Right Ventricle	heart
29	chr12:50810200-50818800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:50810400-50818600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:50810400-50819400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:50810400-50821600	Weak transcription	Dnd41	blood
33	chr12:50810400-50821800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:50810400-50822400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:50810600-50818800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:50810600-50819000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:50810600-50819200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:50810600-50819400	Weak transcription	Brain Anterior Caudate	brain
39	chr12:50810600-50819400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:50810600-50821600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:50810600-50823400	Weak transcription	Ovary	ovary
42	chr12:50810600-50823600	Weak transcription	HepG2	liver
43	chr12:50810600-50824000	Weak transcription	Gastric	stomach
44	chr12:50810600-50824200	Weak transcription	Colonic Mucosa	Colon
45	chr12:50810600-50824400	Weak transcription	NHLF	lung
46	chr12:50810600-50856600	Weak transcription	Aorta	Aorta
47	chr12:50810800-50818600	Weak transcription	HUVEC	blood vessel
48	chr12:50810800-50819000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:50810800-50819000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:50810800-50819000	Weak transcription	Primary B cells from cord blood	blood

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