Variant report

Variant	rs577949
Chromosome Location	chr8:95912409-95912410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:95912145-95913131	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95911771..95913789-chr8:95918971..95920628,2	MCF-7	breast:
2	chr6:36986052..36986559-chr8:95912020..95912521,2	MCF-7	breast:
3	chr8:95912286..95913059-chr8:96260714..96261265,2	MCF-7	breast:
4	chr8:95911691..95914398-chr8:95917763..95919672,2	K562	blood:
5	chr8:95912108..95913087-chr8:96036660..96037524,2	MCF-7	breast:
6	chr8:95910895..95913798-chr8:95915630..95917632,3	K562	blood:
7	chr8:95895328..95898333-chr8:95910317..95912893,3	MCF-7	breast:
8	chr8:95912164..95913158-chr8:96036694..96037632,4	MCF-7	breast:

No data

Variant related genes	Relation type
CCNE2	TF binding region
ENSG00000272509	Chromatin interaction
ENSG00000238791	Chromatin interaction
ENSG00000156170	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]
rs521129	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]
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
rs577949	INTS8	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95909400-95916800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr8:95909400-95917200	Weak transcription	Fetal Intestine Small	intestine
3	chr8:95909400-95917600	Weak transcription	Pancreas	Pancrea
4	chr8:95909400-95918000	Weak transcription	Gastric	stomach
5	chr8:95909400-95920800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:95909400-95932600	Weak transcription	Esophagus	oesophagus
7	chr8:95909400-95939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:95909400-95941000	Weak transcription	Ovary	ovary
9	chr8:95909400-95941200	Weak transcription	Fetal Stomach	stomach
10	chr8:95909600-95913200	Weak transcription	Fetal Brain Male	brain
11	chr8:95909600-95917800	Weak transcription	Stomach Mucosa	stomach
12	chr8:95909600-95920600	Weak transcription	Brain Angular Gyrus	brain
13	chr8:95909600-95937000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:95909600-95938400	Weak transcription	Primary T cells from cord blood	blood
15	chr8:95909600-95941800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:95909800-95930400	Weak transcription	Fetal Brain Female	brain
17	chr8:95909800-95940600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:95910000-95913800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:95910000-95940200	Weak transcription	Thymus	Thymus
20	chr8:95910400-95917200	Weak transcription	Fetal Thymus	thymus
21	chr8:95910400-95918200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:95910800-95916800	Weak transcription	Dnd41	blood
23	chr8:95910800-95931600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:95910800-95940200	Weak transcription	Hela-S3	cervix
25	chr8:95911000-95913800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:95911800-95912800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:95911800-95912800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:95911800-95912800	Weak transcription	K562	blood
29	chr8:95911800-95913600	Enhancers	Brain Germinal Matrix	brain
30	chr8:95912000-95912600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr8:95912000-95912600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:95912000-95912800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:95912000-95912800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:95912200-95912600	Weak transcription	Primary hematopoietic stem cells	blood

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