Variant report

Variant	rs11830472
Chromosome Location	chr12:50054470-50054471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50053639..50056299-chr12:50060265..50061800,2	K562	blood:
2	chr12:50020139..50023155-chr12:50054271..50057275,3	K562	blood:
3	chr12:50052702..50054208-chr12:50054254..50056732,2	K562	blood:
4	chr12:50054459..50059214-chr12:50133848..50137587,7	K562	blood:
5	chr12:50054340..50058502-chr12:50061913..50069673,7	K562	blood:

Variant related genes	Relation type
ENSG00000161791	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11831670	1.00[AFR][1000 genomes]
rs11831673	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11832420	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11832727	1.00[GIH][hapmap];1.00[YRI][hapmap]
rs11833472	0.93[AFR][1000 genomes]
rs11835085	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11837637	1.00[GIH][hapmap];1.00[YRI][hapmap]
rs12320434	1.00[CHD][hapmap]
rs2720299	1.00[CHD][hapmap]
rs3861577	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs56840810	0.90[AFR][1000 genomes]
rs57489906	0.90[AFR][1000 genomes]
rs59576871	0.83[AFR][1000 genomes]
rs7310069	0.90[AFR][1000 genomes]
rs7313183	1.00[YRI][hapmap]
rs7960185	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7973011	0.87[AFR][1000 genomes]
rs7978381	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[YRI][hapmap];1.00[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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50030800-50057000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:50031800-50056200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:50034200-50056200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:50034800-50056400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:50034800-50056600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:50035600-50055000	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr12:50035600-50056400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:50036800-50054600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:50038800-50055600	Weak transcription	K562	blood
10	chr12:50038800-50056200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:50039000-50055400	Strong transcription	Dnd41	blood
12	chr12:50039400-50054600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:50041400-50055200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:50041400-50056200	Strong transcription	NH-A	brain
15	chr12:50042000-50055800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:50042200-50055200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:50042200-50055800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:50042400-50056400	Strong transcription	HSMM	muscle
19	chr12:50042400-50067000	Weak transcription	Fetal Brain Male	brain
20	chr12:50042600-50055400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:50042800-50056200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:50043000-50056000	Strong transcription	HSMMtube	muscle
23	chr12:50043200-50055400	Strong transcription	Fetal Lung	lung
24	chr12:50043200-50055400	Strong transcription	Fetal Stomach	stomach
25	chr12:50043200-50055800	Weak transcription	Stomach Mucosa	stomach
26	chr12:50043600-50056200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:50043800-50055600	Weak transcription	Psoas Muscle	Psoas
28	chr12:50044400-50057000	Weak transcription	Esophagus	oesophagus
29	chr12:50046200-50055200	Weak transcription	Small Intestine	intestine
30	chr12:50046400-50056800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:50046800-50056000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:50047200-50056000	Strong transcription	Osteobl	bone
33	chr12:50047400-50056600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:50048000-50056400	Weak transcription	NHDF-Ad	bronchial
35	chr12:50048200-50055400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:50048600-50055400	Weak transcription	Liver	Liver
37	chr12:50049000-50056000	Weak transcription	Fetal Heart	heart
38	chr12:50049600-50055800	Genic enhancers	Primary T cells from cord blood	blood
39	chr12:50050000-50056400	Weak transcription	HMEC	breast
40	chr12:50050200-50054600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:50050200-50055600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr12:50050400-50054600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:50050400-50055200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:50050800-50055000	Strong transcription	HUVEC	blood vessel
45	chr12:50050800-50056200	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:50051000-50058200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:50051600-50055800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:50051800-50054600	Genic enhancers	Primary B cells from peripheral blood	blood
49	chr12:50052000-50056200	Genic enhancers	Lung	lung
50	chr12:50052200-50054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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