Variant report

Variant	rs34491511
Chromosome Location	chr17:45339475-45339476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45312410..45314597-chr17:45339201..45341519,2	K562	blood:
2	chr17:45339119..45341339-chr17:45349037..45350870,2	K562	blood:
3	chr17:45273730..45275648-chr17:45337706..45340032,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11079770	0.86[ASN][1000 genomes]
rs11656693	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12709458	0.86[ASN][1000 genomes]
rs2292867	0.87[ASN][1000 genomes]
rs3892084	0.97[ASN][1000 genomes]
rs4470207	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4525555	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4598971	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4629024	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67696888	0.88[ASN][1000 genomes]
rs7218632	0.80[EUR][1000 genomes]
rs8073179	0.83[AFR][1000 genomes]
rs8077238	0.85[AFR][1000 genomes]
rs8077375	0.85[AFR][1000 genomes]
rs8077753	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45333200-45344600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr17:45334000-45345800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr17:45335600-45340000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr17:45335600-45340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:45335600-45343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr17:45335800-45339600	Weak transcription	Fetal Stomach	stomach
7	chr17:45335800-45339600	Weak transcription	GM12878-XiMat	blood
8	chr17:45335800-45340000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:45335800-45340000	Weak transcription	Adipose Nuclei	Adipose
10	chr17:45335800-45340000	Weak transcription	Left Ventricle	heart
11	chr17:45335800-45340200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr17:45335800-45341200	Weak transcription	HSMMtube	muscle
13	chr17:45335800-45342600	Weak transcription	NHLF	lung
14	chr17:45335800-45343200	Weak transcription	Right Atrium	heart
15	chr17:45335800-45343600	Weak transcription	Aorta	Aorta
16	chr17:45336000-45346800	Weak transcription	Fetal Heart	heart
17	chr17:45336200-45342000	Weak transcription	HSMM	muscle
18	chr17:45336200-45342600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr17:45336200-45343400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:45336400-45339600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:45336400-45339600	Weak transcription	Spleen	Spleen
22	chr17:45336400-45341000	Weak transcription	K562	blood
23	chr17:45336400-45341400	Weak transcription	NHDF-Ad	bronchial
24	chr17:45336400-45342600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:45336400-45342800	Weak transcription	NH-A	brain
26	chr17:45336400-45342800	Weak transcription	Osteobl	bone
27	chr17:45336600-45339600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr17:45337200-45342000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:45338000-45352200	Weak transcription	Fetal Muscle Leg	muscle
30	chr17:45338800-45340400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr17:45338800-45340400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr17:45339200-45341600	Enhancers	HUVEC	blood vessel
33	chr17:45339400-45340600	Enhancers	Colon Smooth Muscle	Colon
34	chr17:45339400-45345000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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