Variant report

Variant	rs10216590
Chromosome Location	chr8:96086075-96086076
allele	C/G
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	RUNX3	chr8:96085212-96086118	GM12878	blood:	n/a	n/a
2	IKZF1	chr8:96085930-96086130	GM12878	blood:	n/a	n/a
3	MTA3	chr8:96084461-96086139	GM12878	blood:	n/a	n/a
4	NFIC	chr8:96085173-96087285	GM12878	blood:	n/a	n/a
5	EBF1	chr8:96085313-96086097	GM12878	blood:	n/a	chr8:96085691-96085701 chr8:96085692-96085701 chr8:96085692-96085701 chr8:96085690-96085703 chr8:96085690-96085701

No.	Distal block	Cell Line	Cell type
1	chr8:96085590..96087361-chr8:96143254..96146025,2	K562	blood:
2	chr8:96085826..96087704-chr8:96156110..96158693,2	MCF-7	breast:
3	chr8:96082478..96088281-chr8:96279501..96283230,8	MCF-7	breast:
4	chr8:96085236..96087766-chr9:140513238..140514849,2	MCF-7	breast:
5	chr8:96033508..96040236-chr8:96084539..96089897,8	MCF-7	breast:
6	chr8:96037199..96039610-chr8:96084206..96086584,2	K562	blood:
7	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
8	chr8:96081666..96087784-chr8:96143058..96146914,11	MCF-7	breast:
9	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:
10	chr8:95907632..95909697-chr8:96084733..96086751,2	MCF-7	breast:

Variant related genes	Relation type
MIR3150A	TF binding region
ENSG00000253773	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000181090	Chromatin interaction
ENSG00000203993	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10087047	0.83[AFR][1000 genomes]
rs10087335	1.00[AMR][1000 genomes]
rs10089832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10090286	0.83[AFR][1000 genomes]
rs10090874	0.83[AFR][1000 genomes]
rs10093849	1.00[AMR][1000 genomes]
rs10095946	0.83[AFR][1000 genomes]
rs10100231	1.00[AMR][1000 genomes]
rs10107484	1.00[AMR][1000 genomes]
rs10216558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12334340	1.00[AMR][1000 genomes]
rs13438816	1.00[AMR][1000 genomes]
rs13439012	0.83[AFR][1000 genomes]
rs28370425	1.00[AMR][1000 genomes]
rs28394682	0.83[AFR][1000 genomes]
rs28403513	1.00[AFR][1000 genomes]
rs28421068	1.00[AMR][1000 genomes]
rs28431001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28454923	1.00[AMR][1000 genomes]
rs28455960	1.00[AFR][1000 genomes]
rs28504672	1.00[AMR][1000 genomes]
rs28521724	1.00[AFR][1000 genomes]
rs28569283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28581770	0.83[AFR][1000 genomes]
rs28645781	1.00[AMR][1000 genomes]
rs28689859	0.83[AFR][1000 genomes]
rs28713284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28736358	1.00[AMR][1000 genomes]
rs73278574	1.00[AMR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96080200-96101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:96081400-96086600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:96081600-96087800	Weak transcription	A549	lung
4	chr8:96084000-96086600	Weak transcription	K562	blood
5	chr8:96084400-96087400	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr8:96084800-96086200	Flanking Active TSS	GM12878-XiMat	blood
7	chr8:96084800-96088400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:96085000-96086200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:96085000-96087200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr8:96085200-96087400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr8:96085600-96088600	Enhancers	Stomach Mucosa	stomach
12	chr8:96085600-96098200	Weak transcription	Gastric	stomach
13	chr8:96085800-96087200	Weak transcription	Ovary	ovary
14	chr8:96085800-96088600	Enhancers	Liver	Liver
15	chr8:96085800-96089200	Weak transcription	HMEC	breast
16	chr8:96085800-96089800	Weak transcription	Spleen	Spleen
17	chr8:96086000-96086200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:96086000-96086200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
19	chr8:96086000-96086400	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:96086000-96086400	Weak transcription	Pancreas	Pancrea
21	chr8:96086000-96086600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:96086000-96086600	Enhancers	HepG2	liver
23	chr8:96086000-96086800	Weak transcription	Brain Anterior Caudate	brain
24	chr8:96086000-96086800	Enhancers	Fetal Thymus	thymus
25	chr8:96086000-96087000	Weak transcription	Placenta	Placenta
26	chr8:96086000-96087200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:96086000-96087800	Weak transcription	Lung	lung
28	chr8:96086000-96087800	Weak transcription	NHEK	skin
29	chr8:96086000-96088000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:96086000-96088600	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:96086000-96088600	Weak transcription	Colonic Mucosa	Colon
32	chr8:96086000-96088800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr8:96086000-96092200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:96086000-96098200	Weak transcription	Thymus	Thymus

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