Variant report

Variant	rs7980451
Chromosome Location	chr12:45969678-45969679
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10736028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880822	0.88[ASN][1000 genomes]
rs11183118	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17096106	1.00[EUR][1000 genomes]
rs17121378	1.00[EUR][1000 genomes]
rs2408261	1.00[EUR][1000 genomes]
rs2544098	0.92[JPT][hapmap]
rs2712580	0.91[JPT][hapmap]
rs2712581	0.92[JPT][hapmap]
rs60290398	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61654777	1.00[EUR][1000 genomes]
rs7312766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73289029	1.00[EUR][1000 genomes]
rs73289049	1.00[EUR][1000 genomes]
rs73289052	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73289060	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73289064	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832395	chr12:45841765-46039297	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2751099	chr12:45960118-46043633	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45966800-45975400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:45967000-45976400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:45967800-45969800	Enhancers	Duodenum Mucosa	Duodenum
4	chr12:45967800-45971600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:45968000-45971000	Enhancers	Primary hematopoietic stem cells	blood
6	chr12:45968400-45972000	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:45968600-45969800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:45968800-45970800	Weak transcription	Stomach Mucosa	stomach
9	chr12:45969200-45970400	Enhancers	Brain Hippocampus Middle	brain
10	chr12:45969200-45970600	Enhancers	Fetal Thymus	thymus
11	chr12:45969200-45971000	Enhancers	GM12878-XiMat	blood
12	chr12:45969200-45971200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:45969200-45972200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:45969400-45970600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:45969400-45970600	Enhancers	Brain Substantia Nigra	brain
16	chr12:45969400-45970800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr12:45969400-45971200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:45969600-45969800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:45969600-45969800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr12:45969600-45970000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr12:45969600-45970000	Enhancers	Left Ventricle	heart
22	chr12:45969600-45970000	Enhancers	Thymus	Thymus
23	chr12:45969600-45970000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:45969600-45970600	Enhancers	Fetal Muscle Leg	muscle
25	chr12:45969600-45970800	Enhancers	Adipose Nuclei	Adipose
26	chr12:45969600-45971000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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