Variant report

Variant	rs682510
Chromosome Location	chr8:95917871-95917872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95913634..95919106-chr8:95960002..95963177,4	MCF-7	breast:
2	chr8:95908439..95909385-chr8:95917472..95918058,2	MCF-7	breast:
3	chr8:95825413..95826534-chr8:95917013..95918128,4	MCF-7	breast:
4	chr8:95905635..95908338-chr8:95917636..95919532,2	MCF-7	breast:
5	chr8:95825385..95826868-chr8:95917211..95918138,5	K562	blood:
6	chr8:95915511..95918504-chr8:96036526..96038312,2	MCF-7	breast:
7	chr8:95624726..95625394-chr8:95917214..95918137,2	K562	blood:

Variant related genes	Relation type
ENSG00000253878	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2467671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28399565	1.00[ASN][1000 genomes]
rs28399580	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2945561	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956217	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471691	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs515742	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521129	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs528390	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577949	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985452	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71532333	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3330012	chr8:95917076-95920874	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs682510	INTS8	cis	Thyroid	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95909400-95918000	Weak transcription	Gastric	stomach
2	chr8:95909400-95920800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:95909400-95932600	Weak transcription	Esophagus	oesophagus
4	chr8:95909400-95939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:95909400-95941000	Weak transcription	Ovary	ovary
6	chr8:95909400-95941200	Weak transcription	Fetal Stomach	stomach
7	chr8:95909600-95920600	Weak transcription	Brain Angular Gyrus	brain
8	chr8:95909600-95937000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:95909600-95938400	Weak transcription	Primary T cells from cord blood	blood
10	chr8:95909600-95941800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:95909800-95930400	Weak transcription	Fetal Brain Female	brain
12	chr8:95909800-95940600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:95910000-95940200	Weak transcription	Thymus	Thymus
14	chr8:95910400-95918200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:95910800-95931600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:95910800-95940200	Weak transcription	Hela-S3	cervix
17	chr8:95913600-95930200	Weak transcription	Brain Germinal Matrix	brain
18	chr8:95913600-95932600	Weak transcription	Fetal Brain Male	brain
19	chr8:95916000-95918400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:95916600-95918400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:95916800-95918000	Enhancers	A549	lung
22	chr8:95916800-95918400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:95916800-95918600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:95917000-95918800	Enhancers	Primary B cells from cord blood	blood
25	chr8:95917000-95919600	Weak transcription	HSMM	muscle
26	chr8:95917200-95920600	Enhancers	Fetal Intestine Small	intestine
27	chr8:95917400-95918000	Weak transcription	Fetal Thymus	thymus
28	chr8:95917400-95918600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr8:95917400-95919400	Enhancers	HepG2	liver
30	chr8:95917400-95920400	Enhancers	Fetal Intestine Large	intestine
31	chr8:95917400-95921400	Weak transcription	K562	blood
32	chr8:95917600-95918000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr8:95917600-95918400	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:95917600-95918400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr8:95917600-95918800	Enhancers	GM12878-XiMat	blood
36	chr8:95917600-95919000	Enhancers	Pancreas	Pancrea
37	chr8:95917600-95919400	Enhancers	Liver	Liver
38	chr8:95917800-95918000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:95917800-95918000	Enhancers	Brain Anterior Caudate	brain
40	chr8:95917800-95918000	Enhancers	Brain Cingulate Gyrus	brain
41	chr8:95917800-95918200	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr8:95917800-95918400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr8:95917800-95918800	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr8:95917800-95918800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr8:95917800-95919000	Enhancers	Left Ventricle	heart
46	chr8:95917800-95919800	Strong transcription	Dnd41	blood
47	chr8:95917800-95920200	Enhancers	Stomach Mucosa	stomach

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