Variant report

Variant	rs16871529
Chromosome Location	chr8:105529008-105529009
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105523437..105529379-chr8:105769112..105773532,5	K562	blood:
2	chr8:105528612..105531312-chr8:105607615..105609704,2	K562	blood:
3	chr8:105528352..105529138-chr8:105771679..105772480,2	MCF-7	breast:
4	chr8:105525658..105529400-chr8:105771015..105773532,3	K562	blood:
5	chr8:105524219..105529091-chr8:105598970..105603591,5	K562	blood:

Variant related genes	Relation type
ENSG00000147650	Chromatin interaction
ENSG00000253350	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10505059	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10505061	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986052	1.00[EUR][1000 genomes]
rs1347780	1.00[EUR][1000 genomes]
rs16871487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871494	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871501	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871527	1.00[AMR][1000 genomes]
rs16871528	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871532	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871540	1.00[AMR][1000 genomes]
rs16871542	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871547	1.00[EUR][1000 genomes]
rs16871570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871573	1.00[EUR][1000 genomes]
rs16871574	1.00[AMR][1000 genomes];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[EUR][1000 genomes]
rs16871629	1.00[EUR][1000 genomes]
rs16871659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871756	1.00[AMR][1000 genomes]
rs4476984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4478539	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4492340	1.00[YRI][hapmap];1.00[AMR][1000 genomes];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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468936	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468942	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981436	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981448	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982693	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984951	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6985345	1.00[EUR][1000 genomes]
rs6986854	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988869	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992140	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6997991	1.00[EUR][1000 genomes]
rs6998138	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7000469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009354	1.00[AMR][1000 genomes]
rs7009946	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010175	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73293241	1.00[EUR][1000 genomes]
rs73293264	1.00[EUR][1000 genomes]
rs73297124	1.00[EUR][1000 genomes]
rs73299103	1.00[EUR][1000 genomes]
rs73299117	1.00[EUR][1000 genomes]
rs73299119	1.00[EUR][1000 genomes]
rs73299120	1.00[EUR][1000 genomes]
rs73299126	1.00[EUR][1000 genomes]
rs7813227	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813553	1.00[EUR][1000 genomes]
rs7813838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813945	0.87[AFR][1000 genomes]
rs7814211	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7814284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815131	1.00[EUR][1000 genomes]
rs7815196	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817730	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7819632	1.00[AMR][1000 genomes]
rs7819974	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821042	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829983	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832076	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832455	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7835029	1.00[EUR][1000 genomes]
rs7836110	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838122	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841549	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7845240	1.00[AMR][1000 genomes]
rs9694695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:105503800-105535800	Weak transcription	NHDF-Ad	bronchial
3	chr8:105509600-105535800	Weak transcription	Aorta	Aorta
4	chr8:105510200-105546200	Weak transcription	HMEC	breast
5	chr8:105510400-105539400	Weak transcription	HSMMtube	muscle
6	chr8:105510800-105531000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:105511000-105529800	Weak transcription	Fetal Lung	lung
8	chr8:105511800-105532600	Weak transcription	HSMM	muscle
9	chr8:105511800-105550200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:105512800-105542000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:105512800-105550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:105514800-105529200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:105515200-105542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:105519800-105534400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:105520400-105534800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:105520600-105537400	Weak transcription	NH-A	brain
17	chr8:105520800-105536600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:105521000-105540000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:105521400-105540000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:105525400-105531200	Weak transcription	Brain Anterior Caudate	brain
22	chr8:105526000-105529400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:105526400-105530600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:105526400-105531000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:105526400-105531000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr8:105526400-105531000	Weak transcription	Thymus	Thymus
27	chr8:105526400-105531200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:105526400-105531400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:105526800-105531200	Weak transcription	Fetal Thymus	thymus
30	chr8:105527200-105531000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:105527200-105543000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:105527400-105529600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:105527400-105530600	Weak transcription	Primary T cells from cord blood	blood
34	chr8:105527400-105535600	Weak transcription	K562	blood
35	chr8:105527600-105534000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:105527800-105549600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:105528400-105531800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:105528600-105530200	Weak transcription	Dnd41	blood

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