Variant report

Variant	rs12321028
Chromosome Location	chr12:50061667-50061668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50053639..50056299-chr12:50060265..50061800,2	K562	blood:
2	chr12:50059879..50062225-chr12:50063774..50067547,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10219658	0.84[AFR][1000 genomes]
rs11169099	1.00[YRI][hapmap]
rs12298155	1.00[YRI][hapmap]
rs12302063	1.00[YRI][hapmap]
rs12305096	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12306345	0.84[AFR][1000 genomes]
rs12310796	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12322692	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28415203	0.84[AFR][1000 genomes]
rs7133106	1.00[YRI][hapmap];0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50042400-50067000	Weak transcription	Fetal Brain Male	brain
2	chr12:50052200-50066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:50052400-50064800	Weak transcription	Fetal Kidney	kidney
4	chr12:50052600-50067000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:50052600-50067400	Weak transcription	Fetal Brain Female	brain
6	chr12:50054400-50069800	Enhancers	Left Ventricle	heart
7	chr12:50055600-50062400	Enhancers	Psoas Muscle	Psoas
8	chr12:50057400-50063800	Weak transcription	Ovary	ovary
9	chr12:50057400-50066200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:50057600-50063200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:50057600-50064400	Weak transcription	Gastric	stomach
12	chr12:50057600-50064400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:50057600-50064400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr12:50057600-50064800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:50057600-50065000	Weak transcription	Pancreas	Pancrea
16	chr12:50057600-50065200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:50057600-50066000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:50057600-50066200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:50057600-50066400	Weak transcription	Aorta	Aorta
20	chr12:50057600-50066800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:50057600-50067000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:50057600-50067000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:50057600-50067200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:50057800-50063800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr12:50057800-50066200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:50058000-50062600	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:50058200-50062000	Genic enhancers	Primary B cells from cord blood	blood
28	chr12:50058400-50062000	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr12:50058400-50064400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:50058400-50066000	Weak transcription	Esophagus	oesophagus
31	chr12:50058400-50067200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:50058800-50061800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:50058800-50063800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:50058800-50063800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:50058800-50064600	Weak transcription	K562	blood
36	chr12:50058800-50066000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:50059000-50061800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:50059000-50063000	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:50059000-50063200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:50059000-50063600	Weak transcription	Dnd41	blood
41	chr12:50059000-50063800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:50059000-50064000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:50059000-50064200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:50059000-50065000	Weak transcription	HMEC	breast
45	chr12:50059000-50065400	Weak transcription	NHLF	lung
46	chr12:50059000-50066200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:50059000-50066200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:50059200-50064200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:50059200-50064400	Weak transcription	Stomach Mucosa	stomach
50	chr12:50059200-50064600	Weak transcription	Fetal Heart	heart

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