Variant report

Variant	rs73289064
Chromosome Location	chr12:45970305-45970306
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10736028	0.85[AFR][1000 genomes];0.87[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]
rs60290398	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61654777	1.00[EUR][1000 genomes]
rs7312766	0.87[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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73289060	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980451	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:34 , 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	chr12:45967800-45971600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:45968000-45971000	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:45968400-45972000	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:45968800-45970800	Weak transcription	Stomach Mucosa	stomach
7	chr12:45969200-45970400	Enhancers	Brain Hippocampus Middle	brain
8	chr12:45969200-45970600	Enhancers	Fetal Thymus	thymus
9	chr12:45969200-45971000	Enhancers	GM12878-XiMat	blood
10	chr12:45969200-45971200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:45969200-45972200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:45969400-45970600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:45969400-45970600	Enhancers	Brain Substantia Nigra	brain
14	chr12:45969400-45970800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:45969400-45971200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:45969600-45970600	Enhancers	Fetal Muscle Leg	muscle
17	chr12:45969600-45970800	Enhancers	Adipose Nuclei	Adipose
18	chr12:45969600-45971000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:45969800-45970400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:45969800-45970600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:45969800-45970800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr12:45969800-45971000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:45969800-45971000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:45969800-45971400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:45969800-45971600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:45969800-45971600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:45970000-45970400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:45970000-45970400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:45970000-45970400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:45970000-45970400	Weak transcription	Left Ventricle	heart
31	chr12:45970000-45970600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr12:45970000-45970800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr12:45970200-45970400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:45970200-45972000	Enhancers	Primary B cells from cord blood	blood

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