Variant report

Variant	rs2230292
Chromosome Location	chr12:65110530-65110531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65108036..65110835-chr12:65117399..65119651,3	MCF-7	breast:
2	chr12:65108295..65111554-chr12:65113705..65115362,3	K562	blood:
3	chr12:65108874..65111831-chr12:65112536..65115252,5	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17100619	0.92[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100621	0.92[YRI][hapmap];0.80[AFR][1000 genomes]
rs56953843	1.00[AMR][1000 genomes]
rs74098127	1.00[AMR][1000 genomes]
rs74098643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099656	0.96[AFR][1000 genomes]
rs74099664	0.90[AFR][1000 genomes]
rs74099673	0.81[AFR][1000 genomes]
rs74099678	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65077400-65114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:65080000-65113600	Weak transcription	Colonic Mucosa	Colon
3	chr12:65089400-65114600	Weak transcription	Esophagus	oesophagus
4	chr12:65089600-65113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:65089800-65113200	Weak transcription	Right Ventricle	heart
6	chr12:65090200-65114600	Weak transcription	Aorta	Aorta
7	chr12:65090400-65115200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:65095600-65117400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:65096200-65117600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:65100400-65113400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:65100800-65114800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:65103400-65123000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:65104800-65120800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:65105400-65118600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:65105800-65122800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:65106000-65115000	Strong transcription	Adipose Nuclei	Adipose
17	chr12:65106000-65116000	Weak transcription	Small Intestine	intestine
18	chr12:65106200-65122800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr12:65106200-65122800	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:65106400-65123800	Strong transcription	Liver	Liver
21	chr12:65106400-65152600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:65106600-65125800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:65106800-65113200	Weak transcription	Fetal Kidney	kidney
24	chr12:65106800-65117200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:65106800-65117600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:65106800-65118200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:65106800-65119200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:65106800-65123000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:65107000-65111800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:65107000-65118000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr12:65107400-65111200	Strong transcription	Fetal Brain Female	brain
32	chr12:65107600-65117400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:65107600-65118800	Strong transcription	Lung	lung
34	chr12:65107600-65122800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:65107800-65110800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:65107800-65111400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:65107800-65111800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:65107800-65113200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:65107800-65117400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:65108000-65110800	Strong transcription	A549	lung
41	chr12:65108000-65111200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr12:65108000-65112200	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr12:65108000-65114600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:65108000-65117200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:65108000-65118200	Strong transcription	Dnd41	blood
46	chr12:65108000-65119200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:65108200-65111000	Genic enhancers	Osteobl	bone
48	chr12:65108200-65114600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:65108200-65118200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:65108200-65118200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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