Variant report

Variant	rs72897553
Chromosome Location	chr1:45042161-45042162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45041622..45043509-chr1:45047717..45049476,2	K562	blood:
2	chr1:45037140..45040002-chr1:45040486..45044192,4	K562	blood:
3	chr1:45038059..45040987-chr1:45041821..45044367,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6680082	1.00[AFR][1000 genomes]
rs6682263	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6695157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6700736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS 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	27 gene(s)	inside rSNPs	diseases
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
2	chr1:45023800-45047600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:45029800-45047800	Enhancers	Brain Hippocampus Middle	brain
4	chr1:45036800-45044200	Enhancers	Brain Substantia Nigra	brain
5	chr1:45039800-45042400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:45039800-45042800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:45040000-45042200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:45040000-45043200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:45040000-45047600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:45040200-45043200	Enhancers	Brain Angular Gyrus	brain
11	chr1:45040200-45046400	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:45040200-45047400	Enhancers	Brain Anterior Caudate	brain
13	chr1:45040800-45042800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:45041000-45042600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr1:45041000-45043200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:45041000-45043200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:45041400-45043200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:45041400-45043400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:45041600-45042600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:45041600-45042600	Enhancers	HepG2	liver
21	chr1:45041600-45043200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:45041600-45043400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:45041600-45044200	Enhancers	Fetal Stomach	stomach
24	chr1:45041800-45043200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr1:45041800-45043200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:45041800-45044200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:45042000-45042200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:45042000-45042200	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr1:45042000-45042400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:45042000-45042400	Bivalent Enhancer	Placenta	Placenta
31	chr1:45042000-45042600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:45042000-45042600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:45042000-45042600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
34	chr1:45042000-45042800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:45042000-45043000	Enhancers	Fetal Lung	lung
36	chr1:45042000-45043200	Enhancers	Lung	lung

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