Variant report

Variant	rs17091949
Chromosome Location	chr8:19870126-19870127
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19869466..19870969-chr8:19928497..19931121,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11994844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11997167	0.94[AFR][1000 genomes]
rs17091547	1.00[MEX][hapmap]
rs17091775	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17091815	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091870	1.00[AMR][1000 genomes]
rs17091879	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091926	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17116619	0.82[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[AMR][1000 genomes]
rs280	1.00[AMR][1000 genomes]
rs306	1.00[AMR][1000 genomes]
rs60618652	1.00[AMR][1000 genomes]
rs7003628	1.00[AMR][1000 genomes]
rs7007385	1.00[MEX][hapmap]

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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498082	chr8:19722435-19873112	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv32767	chr8:19740189-19873082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19865600-19877000	Weak transcription	Left Ventricle	heart
2	chr8:19867400-19881800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:19868400-19870200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:19868400-19870600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:19868600-19870200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:19869000-19870200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:19869000-19870200	Enhancers	Fetal Muscle Leg	muscle
8	chr8:19869000-19870200	Enhancers	HSMM	muscle
9	chr8:19869000-19870200	Flanking Active TSS	HSMMtube	muscle
10	chr8:19869000-19870400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:19869000-19870400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:19869000-19870400	Enhancers	Osteobl	bone
13	chr8:19869000-19871000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:19869200-19870200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:19869200-19870200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:19869200-19870200	Enhancers	Aorta	Aorta
17	chr8:19869200-19870200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr8:19869200-19870400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:19869200-19870400	Enhancers	Adipose Nuclei	Adipose
20	chr8:19869200-19870400	Enhancers	Fetal Lung	lung
21	chr8:19869400-19870200	Enhancers	Brain Anterior Caudate	brain
22	chr8:19869400-19870400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr8:19869600-19870200	Enhancers	Psoas Muscle	Psoas
24	chr8:19869600-19870200	Enhancers	NHLF	lung
25	chr8:19869600-19870400	Enhancers	Placenta	Placenta
26	chr8:19869800-19870200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:19869800-19870200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:19869800-19870200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr8:19870000-19870200	Flanking Active TSS	NH-A	brain

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