Variant report

Variant	rs146213841
Chromosome Location	chr1:226923705-226923706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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
4	nsv523759	chr1:226923505-226923938	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:111 , 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	chr1:226912400-226924600	Weak transcription	Ovary	ovary
5	chr1:226912800-226925400	Weak transcription	Stomach Mucosa	stomach
6	chr1:226915000-226925000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
7	chr1:226916800-226924200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:226918600-226925000	Transcr. at gene 5' and 3'	Thymus	Thymus
9	chr1:226918800-226925000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
10	chr1:226918800-226925800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:226919200-226924400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:226919400-226924000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:226920000-226925200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:226920200-226924000	Genic enhancers	Primary hematopoietic stem cells	blood
15	chr1:226920400-226924200	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr1:226920400-226924400	Genic enhancers	Spleen	Spleen
17	chr1:226920400-226924600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:226920400-226924600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:226920400-226924600	Genic enhancers	Fetal Lung	lung
20	chr1:226920400-226924800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
21	chr1:226920400-226924800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
22	chr1:226920400-226925000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
23	chr1:226920400-226927000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
24	chr1:226920600-226923800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
25	chr1:226920600-226924400	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:226920600-226924600	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
27	chr1:226920600-226924800	Strong transcription	NHEK	skin
28	chr1:226920600-226925000	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:226920600-226925000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:226920600-226925000	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
31	chr1:226920800-226927200	Active TSS	Psoas Muscle	Psoas
32	chr1:226921000-226924000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:226921000-226924800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:226921000-226927600	Active TSS	Right Atrium	heart
35	chr1:226921200-226923800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:226921200-226924800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:226921600-226924600	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
38	chr1:226921600-226924600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
39	chr1:226921800-226923800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
40	chr1:226921800-226924400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:226921800-226924400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
42	chr1:226921800-226924600	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
43	chr1:226922000-226923800	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
44	chr1:226922000-226924200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
45	chr1:226922000-226924800	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
46	chr1:226922200-226924200	Genic enhancers	NHLF	lung
47	chr1:226922200-226925000	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
48	chr1:226922400-226923800	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
49	chr1:226922400-226924800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr1:226922400-226925000	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood

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