Variant report

Variant	rs73078457
Chromosome Location	chr1:212326068-212326069
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212319256..212321258-chr1:212324558..212327324,3	K562	blood:
2	chr1:212290433..212293269-chr1:212324865..212326922,2	K562	blood:
3	chr1:212323808..212327090-chr1:212336876..212338503,3	K562	blood:
4	chr1:212325848..212328405-chr1:212392780..212395278,2	K562	blood:
5	chr1:212321261..212322830-chr1:212323122..212327254,4	K562	blood:
6	chr1:212325528..212328341-chr1:212462025..212464406,2	K562	blood:
7	chr1:212325464..212333414-chr1:212456079..212461375,10	K562	blood:
8	chr1:212325199..212329163-chr1:212330168..212333367,6	K562	blood:
9	chr1:212324540..212327607-chr1:212329235..212333367,6	K562	blood:
10	chr1:212324486..212328323-chr1:212335764..212338503,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

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

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

rs_ID	r²[population]
rs11119858	0.81[AFR][1000 genomes]
rs11802742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018585	0.89[AFR][1000 genomes]
rs17018586	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018589	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2018722	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57901353	0.85[AFR][1000 genomes]
rs58525076	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7528369	0.81[AFR][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212309000-212347200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212313400-212326200	Weak transcription	Colonic Mucosa	Colon
3	chr1:212314400-212332200	Weak transcription	Dnd41	blood
4	chr1:212320400-212332400	Weak transcription	Gastric	stomach
5	chr1:212321200-212326800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:212321200-212330800	Weak transcription	Fetal Thymus	thymus
7	chr1:212321400-212326600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:212323600-212335800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:212324200-212327200	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:212324600-212340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:212325200-212326400	Flanking Active TSS	K562	blood
12	chr1:212325400-212326200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:212325400-212327200	Enhancers	HUVEC	blood vessel
14	chr1:212325400-212327600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:212325600-212326200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:212325600-212326200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:212325600-212326400	Enhancers	Left Ventricle	heart
18	chr1:212325600-212326400	Enhancers	Small Intestine	intestine
19	chr1:212325600-212327200	Enhancers	Stomach Mucosa	stomach
20	chr1:212325800-212326600	Enhancers	Lung	lung
21	chr1:212326000-212327400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:212326000-212327600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:212326000-212327600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:212326000-212328400	Weak transcription	Right Atrium	heart
25	chr1:212326000-212332400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:212326000-212332400	Weak transcription	Right Ventricle	heart

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