Variant report

Variant	rs521129
Chromosome Location	chr8:95910826-95910827
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:95910541-95910951	K562	blood:	n/a	n/a
2	GATA2	chr8:95910518-95910827	SH-SY5Y	brain:	n/a	n/a
3	JUND	chr8:95910568-95910937	K562	blood:	n/a	n/a
4	GATA3	chr8:95910456-95911100	MCF-7	breast:	n/a	n/a
5	ATF1	chr8:95910671-95910871	K562	blood:	n/a	n/a
6	ZNF263	chr8:95910511-95910948	HEK293-T-REx	kidney:	n/a	chr8:95910705-95910726
7	GATA3	chr8:95910648-95910848	SH-SY5Y	brain:	n/a	n/a
8	MYC	chr8:95910650-95910830	K562	blood:	n/a	n/a
9	EP300	chr8:95910473-95911050	K562	blood:	n/a	n/a
10	KAP1	chr8:95910541-95910974	U2OS	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95909127..95911685-chr8:96110779..96112456,2	MCF-7	breast:
2	chr8:95910082..95911889-chr8:96150413..96152348,2	K562	blood:
3	chr8:95833645..95837522-chr8:95905761..95911691,14	MCF-7	breast:
4	chr8:95651059..95653853-chr8:95908677..95911275,2	MCF-7	breast:
5	chr8:95907501..95911346-chr8:96279945..96283030,5	MCF-7	breast:
6	chr8:95905055..95911257-chr8:96032486..96039313,18	MCF-7	breast:
7	chr8:95909217..95911228-chr8:95924132..95926926,2	K562	blood:
8	chr8:95895328..95898333-chr8:95910317..95912893,3	MCF-7	breast:
9	chr8:95909200..95911980-chr8:96146121..96148321,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCNE2	TF binding region
ENSG00000104413	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000272509	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000261437	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2467671	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28399565	1.00[ASN][1000 genomes]
rs28399580	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2945561	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945562	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956217	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471691	1.00[ASN][1000 genomes]
rs515742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs528390	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532621	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553287	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682510	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684303	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985452	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71532333	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs521129	INTS8	cis	Thyroid	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95909200-95911000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:95909400-95912000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:95909400-95916800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:95909400-95917200	Weak transcription	Fetal Intestine Small	intestine
5	chr8:95909400-95917600	Weak transcription	Pancreas	Pancrea
6	chr8:95909400-95918000	Weak transcription	Gastric	stomach
7	chr8:95909400-95920800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:95909400-95932600	Weak transcription	Esophagus	oesophagus
9	chr8:95909400-95939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:95909400-95941000	Weak transcription	Ovary	ovary
11	chr8:95909400-95941200	Weak transcription	Fetal Stomach	stomach
12	chr8:95909600-95911400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:95909600-95912000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:95909600-95913200	Weak transcription	Fetal Brain Male	brain
15	chr8:95909600-95917800	Weak transcription	Stomach Mucosa	stomach
16	chr8:95909600-95920600	Weak transcription	Brain Angular Gyrus	brain
17	chr8:95909600-95937000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:95909600-95938400	Weak transcription	Primary T cells from cord blood	blood
19	chr8:95909600-95941800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:95909800-95911000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr8:95909800-95911200	Enhancers	K562	blood
22	chr8:95909800-95930400	Weak transcription	Fetal Brain Female	brain
23	chr8:95909800-95940600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:95910000-95913800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:95910000-95940200	Weak transcription	Thymus	Thymus
26	chr8:95910400-95917200	Weak transcription	Fetal Thymus	thymus
27	chr8:95910400-95918200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:95910800-95911000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:95910800-95911800	Weak transcription	Brain Germinal Matrix	brain
30	chr8:95910800-95912000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:95910800-95916800	Weak transcription	Dnd41	blood
32	chr8:95910800-95931600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:95910800-95940200	Weak transcription	Hela-S3	cervix

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