Variant report

Variant	rs10100651
Chromosome Location	chr8:95887225-95887226
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	EBF1	chr8:95887132-95887284	GM12878	blood:	n/a	n/a
2	SPI1	chr8:95887053-95887419	GM12891	blood:	n/a	n/a
3	SPI1	chr8:95887026-95887467	GM12878	blood:	n/a	n/a
4	BATF	chr8:95887105-95887395	GM12878	blood:	n/a	n/a
5	SPI1	chr8:95887013-95887531	GM12891	blood:	n/a	n/a
6	SPI1	chr8:95886943-95887607	GM12878	blood:	n/a	n/a
7	REST	chr8:95887169-95887406	Hela-S3	cervix:	n/a	n/a
8	RUNX3	chr8:95886929-95887464	GM12878	blood:	n/a	n/a
9	YY1	chr8:95887081-95887419	GM12878	blood:	n/a	n/a
10	SPI1	chr8:95887095-95887381	GM12878	blood:	n/a	n/a
11	RUNX3	chr8:95886999-95887356	GM12878	blood:	n/a	n/a
12	IKZF1	chr8:95887094-95887377	GM12878	blood:	n/a	n/a
13	FOS	chr8:95886914-95887286	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95885374..95887574-chr8:95887927..95890028,2	K562	blood:
2	chr8:95856055..95857708-chr8:95885549..95887933,2	MCF-7	breast:

Variant related genes	Relation type
INTS8	TF binding region
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10096090	0.84[ASN][1000 genomes]
rs10112232	0.81[ASN][1000 genomes]
rs10441538	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1129152	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11996455	0.88[ASN][1000 genomes]
rs12155666	0.88[ASN][1000 genomes]
rs12548874	0.84[ASN][1000 genomes]
rs12679044	0.81[AMR][1000 genomes]
rs13271375	0.88[ASN][1000 genomes]
rs13271644	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3779789	0.88[ASN][1000 genomes]
rs4075835	0.87[ASN][1000 genomes]
rs4500055	0.86[ASN][1000 genomes]
rs4734285	0.93[ASN][1000 genomes]
rs6991067	0.94[ASN][1000 genomes]
rs7002058	0.95[ASN][1000 genomes]
rs7004862	0.96[ASN][1000 genomes]
rs713113	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7817862	0.89[ASN][1000 genomes]
rs9650133	0.85[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10100651	INTS8	Cis_1M	lymphoblastoid	RTeQTL
rs10100651	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:95847400-95890800	Weak transcription	Stomach Mucosa	stomach
6	chr8:95870000-95889800	Weak transcription	Esophagus	oesophagus
7	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:95871400-95889600	Weak transcription	NHLF	lung
10	chr8:95872400-95887400	Weak transcription	Fetal Heart	heart
11	chr8:95873600-95891600	Strong transcription	Fetal Intestine Large	intestine
12	chr8:95873800-95892000	Strong transcription	Thymus	Thymus
13	chr8:95873800-95898800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:95874200-95893000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:95874200-95894800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr8:95874200-95895200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr8:95874200-95896600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr8:95874200-95897600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:95874200-95899000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:95874400-95896200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:95874400-95896400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:95874400-95902600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:95874400-95904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:95874600-95888000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr8:95874600-95896200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:95875400-95887600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:95875600-95893200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:95875600-95894400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr8:95875600-95904400	Strong transcription	Fetal Thymus	thymus
30	chr8:95875800-95895000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:95876000-95896200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:95876200-95899200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:95876200-95906600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr8:95876800-95899600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:95877000-95894600	Strong transcription	Placenta	Placenta
36	chr8:95877000-95895800	Strong transcription	Adipose Nuclei	Adipose
37	chr8:95877000-95896200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:95877000-95899200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:95877200-95892200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:95877200-95896800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr8:95877400-95891400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:95879000-95898000	Weak transcription	Right Ventricle	heart
43	chr8:95879200-95895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:95879200-95906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:95880200-95894800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:95881200-95889400	Weak transcription	NHEK	skin
47	chr8:95881200-95898000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:95881200-95905800	Weak transcription	Spleen	Spleen
49	chr8:95881600-95890400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:95882000-95887600	Strong transcription	HMEC	breast

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