Variant report

Variant	rs12306363
Chromosome Location	chr12:50370409-50370410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50367636..50371210-chr12:50373031..50375237,3	K562	blood:
2	chr12:50369533..50370611-chr12:50449444..50450226,3	MCF-7	breast:
3	chr12:50367042..50370413-chr12:50441830..50446012,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17124205	1.00[EUR][1000 genomes]
rs17124219	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17124220	1.00[EUR][1000 genomes]
rs3741560	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59481807	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv899072	chr12:50326176-50379667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv1827130	chr12:50349765-50379667	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50361400-50372800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:50362000-50371200	Weak transcription	Fetal Brain Female	brain
3	chr12:50362600-50385800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:50364200-50371000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:50366400-50374600	Weak transcription	Fetal Kidney	kidney
6	chr12:50366600-50377400	Weak transcription	NHEK	skin
7	chr12:50367000-50378000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:50367400-50401200	Weak transcription	Gastric	stomach
9	chr12:50367600-50374800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:50367800-50370800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:50368000-50372000	Enhancers	Brain Germinal Matrix	brain
12	chr12:50368400-50374600	Weak transcription	Pancreas	Pancrea
13	chr12:50368400-50376000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:50368600-50372800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:50368800-50373600	Weak transcription	GM12878-XiMat	blood
16	chr12:50369000-50370600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:50369000-50372400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:50369200-50372400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:50369200-50374200	Weak transcription	Liver	Liver
20	chr12:50369200-50374600	Weak transcription	HSMMtube	muscle
21	chr12:50369200-50376000	Weak transcription	Fetal Lung	lung
22	chr12:50369200-50377400	Weak transcription	Right Ventricle	heart
23	chr12:50369200-50377600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:50369200-50381600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:50369400-50370800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:50369400-50372000	Weak transcription	Brain Angular Gyrus	brain
27	chr12:50369400-50372000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:50369400-50372600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:50369400-50377600	Weak transcription	Fetal Thymus	thymus
30	chr12:50369600-50370600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:50369600-50372000	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:50369600-50372200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:50369600-50372400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:50369600-50372600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:50369600-50372800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:50369600-50377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:50369600-50377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:50369600-50379200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:50369600-50418200	Weak transcription	Colonic Mucosa	Colon
40	chr12:50369800-50371800	Weak transcription	Brain Anterior Caudate	brain
41	chr12:50369800-50372000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:50369800-50372000	Weak transcription	Fetal Brain Male	brain
43	chr12:50369800-50372000	Weak transcription	HepG2	liver
44	chr12:50369800-50372600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:50369800-50373200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:50369800-50376000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:50370000-50371600	Weak transcription	Fetal Stomach	stomach
48	chr12:50370000-50372000	Weak transcription	Brain Substantia Nigra	brain
49	chr12:50370000-50372000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:50370000-50372000	Weak transcription	Fetal Heart	heart

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