Variant report

Variant	rs16871547
Chromosome Location	chr8:105545818-105545819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105543820..105546530-chr8:105760722..105763113,2	K562	blood:
2	chr8:105544664..105547366-chr8:105749781..105751384,2	MCF-7	breast:
3	chr8:105541937..105546028-chr8:105546808..105551808,5	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10505059	1.00[EUR][1000 genomes]
rs10505061	1.00[EUR][1000 genomes]
rs11986052	1.00[EUR][1000 genomes]
rs1347780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871487	1.00[EUR][1000 genomes]
rs16871494	1.00[EUR][1000 genomes]
rs16871501	1.00[EUR][1000 genomes]
rs16871528	1.00[EUR][1000 genomes]
rs16871529	1.00[EUR][1000 genomes]
rs16871532	1.00[EUR][1000 genomes]
rs16871542	1.00[EUR][1000 genomes]
rs16871570	1.00[EUR][1000 genomes]
rs16871573	1.00[EUR][1000 genomes]
rs16871574	1.00[EUR][1000 genomes]
rs16871583	1.00[EUR][1000 genomes]
rs16871604	1.00[EUR][1000 genomes]
rs16871610	1.00[EUR][1000 genomes]
rs16871627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871659	1.00[EUR][1000 genomes]
rs4478539	1.00[EUR][1000 genomes]
rs4492340	1.00[EUR][1000 genomes]
rs58610142	1.00[EUR][1000 genomes]
rs59552566	1.00[EUR][1000 genomes]
rs59666618	1.00[EUR][1000 genomes]
rs6468931	1.00[EUR][1000 genomes]
rs6468936	1.00[EUR][1000 genomes]
rs6468938	1.00[EUR][1000 genomes]
rs6468942	1.00[EUR][1000 genomes]
rs6981436	1.00[EUR][1000 genomes]
rs6981448	1.00[EUR][1000 genomes]
rs6982444	1.00[EUR][1000 genomes]
rs6982693	1.00[EUR][1000 genomes]
rs6984085	1.00[EUR][1000 genomes]
rs6984951	1.00[EUR][1000 genomes]
rs6985345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986854	1.00[EUR][1000 genomes]
rs6988703	1.00[EUR][1000 genomes]
rs6988869	1.00[EUR][1000 genomes]
rs6992140	1.00[EUR][1000 genomes]
rs6997991	1.00[EUR][1000 genomes]
rs6998138	1.00[EUR][1000 genomes]
rs7000469	1.00[EUR][1000 genomes]
rs7005906	1.00[EUR][1000 genomes]
rs7009946	1.00[EUR][1000 genomes]
rs7010175	1.00[EUR][1000 genomes]
rs73293241	1.00[EUR][1000 genomes]
rs73293264	1.00[EUR][1000 genomes]
rs73295137	0.86[AFR][1000 genomes]
rs73297124	1.00[EUR][1000 genomes]
rs73299103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73299117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73299119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73299120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73299126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813227	1.00[EUR][1000 genomes]
rs7813553	1.00[EUR][1000 genomes]
rs7813838	1.00[EUR][1000 genomes]
rs7814211	1.00[EUR][1000 genomes]
rs7814284	1.00[EUR][1000 genomes]
rs7815131	1.00[EUR][1000 genomes]
rs7815196	1.00[EUR][1000 genomes]
rs7817448	1.00[EUR][1000 genomes]
rs7819974	1.00[EUR][1000 genomes]
rs7820450	1.00[EUR][1000 genomes]
rs7820552	1.00[EUR][1000 genomes]
rs7821042	1.00[EUR][1000 genomes]
rs7829983	1.00[EUR][1000 genomes]
rs7832076	1.00[EUR][1000 genomes]
rs7832455	1.00[EUR][1000 genomes]
rs7835029	1.00[EUR][1000 genomes]
rs7836110	1.00[EUR][1000 genomes]
rs7837072	1.00[EUR][1000 genomes]
rs7837076	1.00[EUR][1000 genomes]
rs7838122	1.00[EUR][1000 genomes]
rs7839019	1.00[EUR][1000 genomes]
rs7841549	1.00[EUR][1000 genomes]
rs7842135	1.00[EUR][1000 genomes]
rs9694695	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105510200-105546200	Weak transcription	HMEC	breast
2	chr8:105511800-105550200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:105512800-105550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:105527800-105549600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:105533200-105551400	Weak transcription	HSMM	muscle
7	chr8:105534800-105549400	Weak transcription	Osteobl	bone
8	chr8:105535600-105550200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:105536200-105549600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:105540000-105562000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:105541000-105548800	Weak transcription	Brain Germinal Matrix	brain
12	chr8:105541000-105549400	Weak transcription	Right Ventricle	heart
13	chr8:105542000-105549600	Weak transcription	Dnd41	blood
14	chr8:105542600-105546200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:105542800-105558600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:105542800-105565400	Weak transcription	Left Ventricle	heart
17	chr8:105544800-105550800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:105545000-105550200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:105545200-105547200	Weak transcription	Fetal Heart	heart
20	chr8:105545200-105547800	Weak transcription	Brain Anterior Caudate	brain
21	chr8:105545200-105549200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:105545200-105554600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:105545200-105565600	Weak transcription	Aorta	Aorta
24	chr8:105545400-105546400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:105545600-105548400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:105545800-105546000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:105545800-105548000	Weak transcription	Right Atrium	heart
28	chr8:105545800-105548000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:105545800-105548400	Weak transcription	Psoas Muscle	Psoas
30	chr8:105545800-105548400	Weak transcription	K562	blood
31	chr8:105545800-105549400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:105545800-105549400	Weak transcription	GM12878-XiMat	blood

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