Variant report

Variant	rs74145911
Chromosome Location	chr1:223724043-223724044
allele	A/C
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:10)

rs_ID	r²[population]
rs74145906	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74145907	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74145912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74145915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74145917	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74145918	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74145919	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74145922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74145935	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74145939	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]

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	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223714400-223728200	Weak transcription	Fetal Stomach	stomach
2	chr1:223718600-223727000	Weak transcription	Gastric	stomach
3	chr1:223723400-223724200	Enhancers	GM12878-XiMat	blood
4	chr1:223723400-223724400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:223723400-223724400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:223723400-223724400	Enhancers	Colonic Mucosa	Colon
7	chr1:223723400-223724400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:223723400-223724400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr1:223723400-223725000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:223723400-223725600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:223723400-223725600	Enhancers	Stomach Mucosa	stomach
12	chr1:223723400-223725600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:223723600-223724200	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:223723600-223724400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr1:223723600-223724400	Enhancers	Esophagus	oesophagus
16	chr1:223723800-223724200	Enhancers	Primary hematopoietic stem cells	blood
17	chr1:223723800-223724400	Enhancers	HMEC	breast
18	chr1:223723800-223724600	Enhancers	NHEK	skin
19	chr1:223724000-223724400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:223724000-223724800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:223724000-223725000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:223724000-223725400	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:223724000-223725400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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