Variant report

Variant	rs2269653
Chromosome Location	chr1:175096725-175096726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175091685..175094091-chr1:175094460..175097259,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10912889	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12146041	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476062	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847836	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2006189	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4651323	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6695536	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][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	nsv825487	chr1:175031609-175113572	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv508648	chr1:175056387-175121913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175084800-175097000	Weak transcription	Gastric	stomach
2	chr1:175086400-175099600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:175091200-175098600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:175094000-175100000	Enhancers	Liver	Liver
5	chr1:175094400-175098400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:175094400-175098800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:175094600-175096800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:175094800-175096800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:175095600-175098200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:175095600-175098200	Enhancers	Lung	lung
11	chr1:175095600-175099600	Enhancers	Fetal Lung	lung
12	chr1:175095600-175099800	Enhancers	Placenta	Placenta
13	chr1:175095600-175099800	Enhancers	Right Atrium	heart
14	chr1:175095600-175100400	Enhancers	Fetal Stomach	stomach
15	chr1:175095800-175097000	Weak transcription	Left Ventricle	heart
16	chr1:175095800-175102600	Enhancers	Stomach Smooth Muscle	stomach
17	chr1:175096000-175097000	Weak transcription	Adipose Nuclei	Adipose
18	chr1:175096200-175097200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:175096200-175097400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:175096200-175097400	Enhancers	Stomach Mucosa	stomach
21	chr1:175096400-175102600	Enhancers	Colon Smooth Muscle	Colon
22	chr1:175096600-175096800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:175096600-175098000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:175096600-175099400	Enhancers	Spleen	Spleen
25	chr1:175096600-175099800	Enhancers	Primary monocytes fromperipheralblood	blood

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