Variant report

Variant	rs7819093
Chromosome Location	chr8:61822935-61822936
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	POLR2A	chr8:61821780-61823258	GM12892	blood:	n/a	n/a
2	POLR2A	chr8:61821768-61823231	GM12892	blood:	n/a	n/a
3	CTCF	chr8:61822820-61822970	GM12868	blood:	n/a	chr8:61822823-61822836 chr8:61822859-61822872
4	BHLHE40	chr8:61821969-61823247	GM12878	blood:	n/a	chr8:61822963-61822979
5	MTA3	chr8:61822841-61823471	GM12878	blood:	n/a	n/a
6	CTCF	chr8:61822790-61823004	GM19240	blood:	n/a	chr8:61822823-61822836 chr8:61822859-61822872
7	SIN3A	chr8:61822136-61823163	H1-hESC	embryonic stem cell:	n/a	chr8:61823138-61823151
8	CTCF	chr8:61822800-61822950	Caco-2	colon:	n/a	chr8:61822823-61822836 chr8:61822859-61822872
9	POLR2A	chr8:61821229-61823401	GM19099	blood:	n/a	n/a
10	TCF3	chr8:61822139-61823086	GM12878	blood:	n/a	n/a
11	MTA3	chr8:61821108-61823501	GM12878	blood:	n/a	n/a
12	MAX	chr8:61822868-61823255	MCF-7	breast:	n/a	n/a
13	CTCF	chr8:61822778-61822964	GM19239	blood:	n/a	chr8:61822823-61822836 chr8:61822859-61822872
14	CTCF	chr8:61822840-61822990	HRPEpiC	eye:	n/a	chr8:61822859-61822872
15	MAX	chr8:61821969-61823362	GM12878	blood:	n/a	n/a
16	EBF1	chr8:61821924-61823004	GM12878	blood:	n/a	n/a
17	MAX	chr8:61821362-61823159	NB4	blood:	n/a	n/a
18	CTCF	chr8:61822880-61823030	GM12873	blood:	n/a	n/a
19	POLR2A	chr8:61821252-61823354	GM18526	blood:	n/a	n/a
20	CTCF	chr8:61822820-61822970	GM12865	blood:	n/a	chr8:61822823-61822836 chr8:61822859-61822872
21	FOS	chr8:61822810-61823324	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr8:61821355-61823142	GM12892	blood:	n/a	n/a
23	POLR2A	chr8:61820812-61826736	GM12878	blood:	n/a	n/a
24	CTCF	chr8:61822866-61822988	GM20000	blood:	n/a	n/a
25	CTCF	chr8:61822880-61823030	HUVEC	blood vessel:	n/a	n/a
26	BCLAF1	chr8:61821990-61823104	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822860-61822873 chr8:61822627-61822640
27	BCLAF1	chr8:61821250-61823386	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822860-61822873 chr8:61822627-61822640
28	FOXM1	chr8:61821814-61823271	GM12878	blood:	n/a	n/a
29	CTCF	chr8:61822775-61822965	GM19238	blood:	n/a	chr8:61822823-61822836 chr8:61822859-61822872
30	POLR2A	chr8:61821153-61823143	GM19193	blood:	n/a	n/a
31	CTCF	chr8:61822920-61823070	SAEC	small airway:	n/a	n/a
32	POLR2A	chr8:61822730-61823012	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr8:61821190-61823452	GM12891	blood:	n/a	n/a
34	TBL1XR1	chr8:61821231-61823323	GM12878	blood:	n/a	n/a
35	NFIC	chr8:61821149-61823508	GM12878	blood:	n/a	chr8:61821884-61821912
36	PML	chr8:61820983-61823483	GM12878	blood:	n/a	n/a
37	CTCF	chr8:61822740-61823030	GM12869	blood:	n/a	chr8:61822823-61822836 chr8:61822859-61822872
38	CHD2	chr8:61821267-61823036	GM12878	blood:	n/a	chr8:61821527-61821537
39	CEBPB	chr8:61822814-61823320	MCF-7	breast:	n/a	n/a
40	CTCF	chr8:61822800-61822950	HA-sp	spinal cord:	n/a	chr8:61822823-61822836 chr8:61822859-61822872
41	RUNX3	chr8:61821155-61823486	GM12878	blood:	n/a	n/a
42	STAT5A	chr8:61822379-61823422	GM12878	blood:	n/a	chr8:61822558-61822570
43	CTCF	chr8:61822800-61822950	GM12874	blood:	n/a	chr8:61822823-61822836 chr8:61822859-61822872
44	POLR2A	chr8:61822335-61823199	HL-60	blood:	n/a	n/a
45	CTCF	chr8:61822718-61823009	GM12878	blood:	n/a	chr8:61822823-61822836 chr8:61822859-61822872
46	POLR2A	chr8:61821020-61826441	GM12878	blood:	n/a	n/a
47	POLR2A	chr8:61822150-61823099	GM12878	blood:	n/a	n/a
48	RUNX3	chr8:61821252-61823470	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:61821297-61823148	HUVEC	blood vessel:	n/a	n/a
50	ZBTB7A	chr8:61822078-61823130	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000254777	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10095158	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv3327831	chr8:61821423-61824171	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61820800-61825400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr8:61821000-61823000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr8:61821000-61823000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:61821000-61823000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr8:61821000-61823000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr8:61821000-61823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:61821000-61823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:61821000-61823400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr8:61821000-61823400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:61821000-61826400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr8:61821200-61823200	Enhancers	Spleen	Spleen
12	chr8:61821200-61823400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:61821200-61823400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr8:61821200-61823800	Active TSS	Rectal Smooth Muscle	rectum
15	chr8:61821400-61823200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr8:61821400-61823200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr8:61821400-61823200	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr8:61821400-61823400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:61821400-61823400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr8:61821400-61823400	Active TSS	Fetal Brain Female	brain
21	chr8:61821400-61823400	Flanking Active TSS	HUVEC	blood vessel
22	chr8:61821400-61826400	Enhancers	Placenta	Placenta
23	chr8:61821600-61823000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:61821600-61823000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:61821600-61823200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:61821600-61823200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr8:61821600-61823400	Flanking Active TSS	HSMM	muscle
28	chr8:61821800-61823000	Bivalent/Poised TSS	Fetal Stomach	stomach
29	chr8:61821800-61823200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr8:61821800-61823200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
31	chr8:61821800-61823400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:61822000-61823000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr8:61822000-61823000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:61822000-61823000	Active TSS	Fetal Kidney	kidney
35	chr8:61822000-61823000	Active TSS	Left Ventricle	heart
36	chr8:61822000-61823200	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr8:61822000-61823200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:61822000-61823200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
39	chr8:61822000-61823200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:61822000-61823200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:61822000-61823200	Active TSS	Brain Angular Gyrus	brain
42	chr8:61822000-61823200	Active TSS	Small Intestine	intestine
43	chr8:61822200-61823000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr8:61822200-61823000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:61822200-61823000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:61822200-61823000	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr8:61822200-61823000	Active TSS	Brain Anterior Caudate	brain
48	chr8:61822200-61823000	Active TSS	Brain Substantia Nigra	brain
49	chr8:61822200-61823000	Active TSS	Fetal Intestine Large	intestine
50	chr8:61822200-61823000	Flanking Active TSS	Pancreas	Pancrea

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