Variant report

Variant	rs12738771
Chromosome Location	chr1:226920431-226920432
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226918577..226920487-chr1:226923925..226925523,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC42BPA-5	chr1:226920314-226922612	NONHSAT009902

Variant related genes	Relation type
ENSG00000143772	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10916036	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11577480	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11581975	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3768414	0.96[ASN][1000 genomes]
rs4653466	0.86[EUR][1000 genomes]
rs6667260	0.96[ASN][1000 genomes]
rs6700213	0.85[EUR][1000 genomes]
rs6703275	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
2	chr1:226909800-226924200	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr1:226910000-226925000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr1:226910200-226922400	Weak transcription	Fetal Brain Male	brain
5	chr1:226912000-226920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:226912000-226920600	Weak transcription	NHEK	skin
7	chr1:226912000-226923200	Weak transcription	NH-A	brain
8	chr1:226912200-226921800	Weak transcription	NHDF-Ad	bronchial
9	chr1:226912200-226922000	Weak transcription	HMEC	breast
10	chr1:226912200-226923600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:226912400-226920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:226912400-226920600	Weak transcription	NHLF	lung
13	chr1:226912400-226924600	Weak transcription	Ovary	ovary
14	chr1:226912600-226920600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:226912800-226921000	Weak transcription	HUVEC	blood vessel
16	chr1:226912800-226921800	Weak transcription	Placenta	Placenta
17	chr1:226912800-226925400	Weak transcription	Stomach Mucosa	stomach
18	chr1:226913200-226920600	Weak transcription	Fetal Kidney	kidney
19	chr1:226913400-226920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:226913600-226923000	Weak transcription	Gastric	stomach
21	chr1:226914200-226920800	Weak transcription	Right Ventricle	heart
22	chr1:226915000-226925000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
23	chr1:226916000-226920600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:226916400-226920600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:226916600-226920600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:226916600-226920600	Weak transcription	Liver	Liver
27	chr1:226916600-226920600	Weak transcription	Esophagus	oesophagus
28	chr1:226916600-226920800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:226916600-226923400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:226916800-226920600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:226916800-226921000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:226916800-226924200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:226917600-226920600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:226917800-226920600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr1:226918000-226920600	Weak transcription	Fetal Stomach	stomach
36	chr1:226918200-226920600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:226918200-226920600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:226918400-226921800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:226918600-226925000	Transcr. at gene 5' and 3'	Thymus	Thymus
40	chr1:226918800-226922400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:226918800-226925000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
42	chr1:226918800-226925800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:226919000-226920600	Genic enhancers	Monocytes-CD14+_RO01746	blood
44	chr1:226919200-226920600	Genic enhancers	Left Ventricle	heart
45	chr1:226919200-226924400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:226919400-226920600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr1:226919400-226920600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:226919400-226920600	Genic enhancers	Fetal Muscle Leg	muscle
49	chr1:226919400-226920600	Enhancers	Pancreas	Pancrea
50	chr1:226919400-226920600	Enhancers	Psoas Muscle	Psoas

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