Variant report

Variant	rs16871494
Chromosome Location	chr8:105503401-105503402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105497097..105499819-chr8:105501963..105503734,2	MCF-7	breast:
2	chr8:105498390..105501082-chr8:105502393..105504382,3	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10505059	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10505061	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871501	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871527	1.00[AMR][1000 genomes]
rs16871528	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871529	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871532	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871540	1.00[AMR][1000 genomes]
rs16871542	1.00[YRI][hapmap];0.91[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]
rs4476984	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4478539	1.00[YRI][hapmap];0.97[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];0.97[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	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981436	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981448	0.85[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[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992140	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];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]
rs7009946	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010175	0.85[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];0.97[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	0.84[AFR][1000 genomes]
rs7814211	0.91[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	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817730	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7819632	1.00[AMR][1000 genomes]
rs7819974	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[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	0.97[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];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832076	1.00[YRI][hapmap];0.97[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841549	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105489400-105512800	Weak transcription	Gastric	stomach
2	chr8:105491400-105510000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:105491400-105517200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:105492200-105505800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:105495400-105507200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:105495600-105509200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:105495600-105525800	Weak transcription	Psoas Muscle	Psoas
8	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:105500800-105519800	Strong transcription	Dnd41	blood
10	chr8:105501000-105509200	Weak transcription	Lung	lung
11	chr8:105501200-105509000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:105501400-105504800	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:105501400-105505800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:105501400-105509200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:105501400-105509400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:105501400-105509600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:105501400-105515000	Weak transcription	Spleen	Spleen
18	chr8:105501400-105516200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:105501400-105517400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:105501400-105517400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:105501600-105504600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:105501600-105504800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:105501600-105509200	Weak transcription	Brain Substantia Nigra	brain
24	chr8:105501600-105509200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:105501600-105509400	Weak transcription	HMEC	breast
26	chr8:105501600-105512200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:105501600-105520800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:105501800-105503800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:105501800-105505600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:105501800-105509200	Weak transcription	NHLF	lung
31	chr8:105501800-105518800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:105501800-105521000	Weak transcription	NHEK	skin
33	chr8:105502000-105503800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:105502000-105510800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:105502000-105518400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:105502200-105504000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:105502200-105504600	Weak transcription	Brain Angular Gyrus	brain
38	chr8:105502200-105509400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:105502600-105503800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:105502800-105503600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:105502800-105503600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:105502800-105503600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:105502800-105503600	Strong transcription	Primary T cells from cord blood	blood
44	chr8:105502800-105503600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:105502800-105503600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:105502800-105503600	Strong transcription	Adipose Nuclei	Adipose
47	chr8:105502800-105503600	Strong transcription	Fetal Heart	heart
48	chr8:105502800-105503600	Strong transcription	Fetal Kidney	kidney
49	chr8:105502800-105503600	Strong transcription	Fetal Lung	lung
50	chr8:105502800-105503600	Strong transcription	Ovary	ovary

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