Variant report

Variant	rs73119734
Chromosome Location	chr1:223805961-223805962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57974517	1.00[AFR][1000 genomes]
rs73119716	1.00[AFR][1000 genomes]
rs73119721	1.00[AFR][1000 genomes]
rs73125619	1.00[AFR][1000 genomes]
rs73125630	1.00[AFR][1000 genomes]
rs73125695	1.00[AFR][1000 genomes]
rs73125697	1.00[AFR][1000 genomes]
rs73127609	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv873209	chr1:223707647-223846564	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv873210	chr1:223707647-223856414	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv873211	chr1:223707647-223867631	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1000199	chr1:223803545-223854859	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223796800-223811800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:223799400-223815400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:223799800-223806000	Weak transcription	Fetal Stomach	stomach
4	chr1:223802800-223821000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:223803200-223806000	Enhancers	Fetal Muscle Leg	muscle
6	chr1:223804000-223806200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:223804800-223806800	Weak transcription	Stomach Mucosa	stomach
8	chr1:223805400-223806000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:223805400-223806000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:223805400-223806000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:223805400-223806200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:223805600-223806000	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:223805600-223806000	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:223805600-223806200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:223805600-223806600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:223805600-223806600	Enhancers	Placenta	Placenta
17	chr1:223805600-223807200	Enhancers	Spleen	Spleen
18	chr1:223805800-223806000	Enhancers	Esophagus	oesophagus
19	chr1:223805800-223806000	Genic enhancers	Lung	lung
20	chr1:223805800-223806200	Strong transcription	Gastric	stomach
21	chr1:223805800-223806200	Bivalent Enhancer	HepG2	liver

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