Variant report

Variant	rs16889209
Chromosome Location	chr8:117887699-117887700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:117886541-117887724	K562	blood:	n/a	chr8:117886680-117886689 chr8:117887164-117887173
2	HCFC1	chr8:117885500-117887725	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr8:117886418-117887880	GM12878	blood:	n/a	n/a
4	KAP1	chr8:117887429-117888311	K562	blood:	n/a	n/a
5	SETDB1	chr8:117887082-117888255	U2OS	brain:	n/a	chr8:117887281-117887290 chr8:117887100-117887109 chr8:117887147-117887156
6	REST	chr8:117885701-117887811	H1-neurons	neurons:	n/a	chr8:117886314-117886327 chr8:117886270-117886283 chr8:117886311-117886324 chr8:117886957-117886967 chr8:117886375-117886393
7	MXI1	chr8:117885043-117887774	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr8:117886592-117887766	PFSK-1	brain:	n/a	n/a
9	IRF1	chr8:117886698-117887706	K562	blood:	n/a	chr8:117887568-117887580

No.	Distal block	Cell Line	Cell type
1	chr8:117863976..117865833-chr8:117886990..117888804,2	MCF-7	breast:
2	chr8:117775214..117779057-chr8:117886515..117888588,5	K562	blood:
3	chr8:117776578..117778707-chr8:117885688..117887716,2	MCF-7	breast:
4	chr8:117860936..117862672-chr8:117885542..117887768,2	MCF-7	breast:
5	chr8:117777051..117780452-chr8:117884154..117888588,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAD21-AS1-1	chr8:117887660-117889107	ENSG00000253327.2

Variant related genes	Relation type
RAD21	TF binding region
MIR3610	TF binding region
ENSG00000147677	Chromatin interaction
ENSG00000164754	Chromatin interaction
ENSG00000147679	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10094803	1.00[EUR][1000 genomes]
rs10282816	1.00[EUR][1000 genomes]
rs10283144	1.00[EUR][1000 genomes]
rs10283150	1.00[EUR][1000 genomes]
rs11990712	1.00[EUR][1000 genomes]
rs12543129	1.00[EUR][1000 genomes]
rs12548895	1.00[EUR][1000 genomes]
rs1348797	1.00[EUR][1000 genomes]
rs14795	1.00[EUR][1000 genomes]
rs16888925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16888945	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16889007	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16889037	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16889074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16889218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16889220	1.00[EUR][1000 genomes]
rs16889226	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17435846	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17435860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1838839	1.00[EUR][1000 genomes]
rs2241981	1.00[EUR][1000 genomes]
rs2241982	1.00[EUR][1000 genomes]
rs2289937	1.00[EUR][1000 genomes]
rs28462971	1.00[EUR][1000 genomes]
rs2921771	1.00[EUR][1000 genomes]
rs2921782	1.00[EUR][1000 genomes]
rs2921783	1.00[EUR][1000 genomes]
rs2921784	1.00[EUR][1000 genomes]
rs2921785	1.00[EUR][1000 genomes]
rs2921787	1.00[EUR][1000 genomes]
rs2921788	1.00[EUR][1000 genomes]
rs2921790	1.00[EUR][1000 genomes]
rs3020111	1.00[EUR][1000 genomes]
rs3020125	1.00[EUR][1000 genomes]
rs3020128	1.00[EUR][1000 genomes]
rs3020130	1.00[EUR][1000 genomes]
rs3020131	1.00[EUR][1000 genomes]
rs3020133	1.00[EUR][1000 genomes]
rs3020135	1.00[EUR][1000 genomes]
rs3020138	1.00[EUR][1000 genomes]
rs3020139	1.00[EUR][1000 genomes]
rs3020181	1.00[EUR][1000 genomes]
rs55952416	1.00[EUR][1000 genomes]
rs56095633	1.00[EUR][1000 genomes]
rs57202151	1.00[EUR][1000 genomes]
rs6469664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6993568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7831930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836088	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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891407	chr8:117881393-117895239	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv891408	chr8:117884270-117895239	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117881200-117887800	Active TSS	GM12878-XiMat	blood
2	chr8:117884000-117887800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:117884000-117887800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr8:117884400-117887800	Active TSS	A549	lung
5	chr8:117884600-117887800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:117884800-117887800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:117885200-117887800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:117885200-117887800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:117885200-117887800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:117885200-117887800	Active TSS	NHEK	skin
11	chr8:117885400-117887800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr8:117885400-117887800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:117885600-117887800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr8:117885600-117887800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:117885600-117887800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr8:117885600-117887800	Active TSS	Fetal Brain Male	brain
17	chr8:117886000-117887800	Active TSS	Fetal Brain Female	brain
18	chr8:117886000-117888000	Active TSS	Primary T cells from cord blood	blood
19	chr8:117886200-117887800	Active TSS	HepG2	liver
20	chr8:117886800-117887800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:117887200-117887800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr8:117887200-117887800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:117887400-117887800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr8:117887400-117887800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:117887400-117887800	Flanking Active TSS	Dnd41	blood
26	chr8:117887400-117890800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:117887600-117887800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
28	chr8:117887600-117887800	Active TSS	Primary hematopoietic stem cells	blood
29	chr8:117887600-117887800	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr8:117887600-117887800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:117887600-117887800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:117887600-117887800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr8:117887600-117887800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr8:117887600-117887800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:117887600-117887800	Bivalent Enhancer	Fetal Heart	heart
36	chr8:117887600-117887800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr8:117887600-117887800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
38	chr8:117887600-117888200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:117887600-117889600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:117887600-117889600	Weak transcription	Hela-S3	cervix
41	chr8:117887600-117890600	Weak transcription	NHLF	lung
42	chr8:117887600-117891000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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