Variant report

Variant	rs16888719
Chromosome Location	chr8:39938909-39938910
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:39928502..39931425-chr8:39937811..39939338,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs13254619	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1481048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888729	1.00[ASN][1000 genomes]
rs16888732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888736	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888813	1.00[CHB][hapmap]
rs28427344	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2981193	1.00[ASN][1000 genomes]
rs34487659	0.95[ASN][1000 genomes]
rs34852909	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4521741	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55742726	1.00[ASN][1000 genomes]
rs55784256	1.00[ASN][1000 genomes]
rs55977637	1.00[ASN][1000 genomes]
rs55999326	1.00[ASN][1000 genomes]
rs56302842	1.00[ASN][1000 genomes]
rs56347116	1.00[ASN][1000 genomes]
rs57503829	0.90[ASN][1000 genomes]
rs59027887	1.00[ASN][1000 genomes]
rs59248258	1.00[ASN][1000 genomes]
rs59885214	1.00[ASN][1000 genomes]
rs60772517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61048623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61513602	1.00[ASN][1000 genomes]
rs61682670	1.00[ASN][1000 genomes]
rs6474213	1.00[ASN][1000 genomes]
rs6474215	1.00[ASN][1000 genomes]
rs6474216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474217	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983101	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987771	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000302	1.00[ASN][1000 genomes]
rs7000470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007403	1.00[ASN][1000 genomes]
rs7014749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017503	1.00[ASN][1000 genomes]
rs7017791	1.00[ASN][1000 genomes]
rs71510122	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71510123	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73617874	1.00[ASN][1000 genomes]
rs73674750	0.95[ASN][1000 genomes]
rs7822668	1.00[ASN][1000 genomes]
rs7822780	1.00[ASN][1000 genomes]
rs7832286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834273	1.00[AMR][1000 genomes]
rs7836554	1.00[ASN][1000 genomes]
rs7837003	1.00[ASN][1000 genomes]
rs7837122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837262	0.95[ASN][1000 genomes]
rs7837573	1.00[ASN][1000 genomes]
rs7838116	1.00[ASN][1000 genomes]
rs7838519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839033	1.00[ASN][1000 genomes]
rs7841905	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr8:39913000-39939000	Weak transcription	Right Atrium	heart
2	chr8:39937800-39939000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:39937800-39939800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:39938000-39939400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:39938000-39939600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:39938000-39939600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:39938200-39939000	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr8:39938200-39939000	Enhancers	Fetal Lung	lung
9	chr8:39938200-39939000	Enhancers	Ovary	ovary
10	chr8:39938200-39939000	Enhancers	HepG2	liver
11	chr8:39938200-39939600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:39938200-39939600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:39938200-39939800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:39938200-39939800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:39938400-39939200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:39938400-39939200	Enhancers	Brain Germinal Matrix	brain
17	chr8:39938400-39939600	Enhancers	Fetal Brain Female	brain
18	chr8:39938600-39939000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:39938600-39939400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:39938800-39939000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:39938800-39939000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:39938800-39939000	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr8:39938800-39939000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr8:39938800-39939000	Enhancers	Brain Substantia Nigra	brain
25	chr8:39938800-39939000	Enhancers	Rectal Smooth Muscle	rectum
26	chr8:39938800-39939000	Active TSS	Stomach Smooth Muscle	stomach
27	chr8:39938800-39939000	Flanking Active TSS	A549	lung
28	chr8:39938800-39939200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:39938800-39939200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:39938800-39939200	Enhancers	Liver	Liver
31	chr8:39938800-39939200	Enhancers	Colon Smooth Muscle	Colon
32	chr8:39938800-39939200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr8:39938800-39939400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:39938800-39939400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:39938800-39939400	Active TSS	Brain Angular Gyrus	brain
36	chr8:39938800-39939400	Enhancers	Fetal Intestine Small	intestine
37	chr8:39938800-39939400	Enhancers	Fetal Stomach	stomach
38	chr8:39938800-39939600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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