Variant report

Variant	rs55991953
Chromosome Location	chr17:38358679-38358680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38358043..38359663-chr17:38442888..38445339,2	K562	blood:
2	chr17:38356192..38359891-chr17:38364494..38367617,3	K562	blood:
3	chr17:38345696..38348343-chr17:38358182..38361065,2	MCF-7	breast:
4	chr17:38357895..38358717-chr17:38446973..38447634,3	MCF-7	breast:
5	chr17:38358179..38358760-chr17:38510985..38511624,3	K562	blood:
6	chr17:38356805..38359543-chr17:38443822..38445339,2	K562	blood:

Variant related genes	Relation type
ENSG00000094804	Chromatin interaction
ENSG00000108352	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12103921	0.98[ASN][1000 genomes]
rs12944717	0.94[ASN][1000 genomes]
rs16965687	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2280400	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2314338	0.81[ASN][1000 genomes]
rs28537537	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28663197	0.82[ASN][1000 genomes]
rs34223321	0.97[ASN][1000 genomes]
rs3744806	0.97[ASN][1000 genomes]
rs45567834	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4566234	0.81[ASN][1000 genomes]
rs55767073	0.83[AMR][1000 genomes]
rs55772196	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55835834	0.90[ASN][1000 genomes]
rs56013073	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56029626	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59018914	0.90[ASN][1000 genomes]
rs59861136	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61024420	0.93[ASN][1000 genomes]
rs6503537	0.82[ASN][1000 genomes]
rs6503539	0.84[ASN][1000 genomes]
rs67597966	0.95[ASN][1000 genomes]
rs72836633	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72836634	0.95[ASN][1000 genomes]
rs72836635	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72836636	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72836639	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72836640	0.90[ASN][1000 genomes]
rs72836641	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72836642	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72836648	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7359537	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7405635	0.94[ASN][1000 genomes]
rs8073925	0.99[ASN][1000 genomes]
rs8078204	0.81[ASN][1000 genomes]
rs8080931	0.81[ASN][1000 genomes]
rs8082192	0.97[ASN][1000 genomes]
rs9891718	0.82[ASN][1000 genomes]
rs9892404	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9892973	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9893520	0.82[ASN][1000 genomes]
rs9895163	0.82[ASN][1000 genomes]
rs9897092	0.82[ASN][1000 genomes]
rs9906409	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9907683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9908034	0.83[ASN][1000 genomes]
rs9908354	1.00[ASN][1000 genomes]
rs9911840	0.82[ASN][1000 genomes]
rs9912082	0.83[ASN][1000 genomes]
rs9916782	0.85[AMR][1000 genomes];0.84[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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38350200-38359400	Weak transcription	Colonic Mucosa	Colon
2	chr17:38350800-38359400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:38350800-38359400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:38358000-38359000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr17:38358000-38360000	Enhancers	Liver	Liver
6	chr17:38358000-38361200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr17:38358200-38358800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr17:38358200-38358800	Flanking Active TSS	HepG2	liver
9	chr17:38358200-38359600	Enhancers	Adipose Nuclei	Adipose
10	chr17:38358200-38359800	Enhancers	HUVEC	blood vessel
11	chr17:38358200-38360000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:38358200-38360400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:38358200-38361000	Enhancers	Duodenum Mucosa	Duodenum
14	chr17:38358400-38359400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr17:38358400-38359600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:38358400-38362400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr17:38358600-38359000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr17:38358600-38359200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:38358600-38359200	Weak transcription	Osteobl	bone
20	chr17:38358600-38359400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:38358600-38359400	Weak transcription	NHDF-Ad	bronchial
22	chr17:38358600-38359600	Weak transcription	K562	blood

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