Variant report

Variant	rs10099623
Chromosome Location	chr8:58943912-58943913
allele	A/C
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	GATA3	chr8:58942833-58944283	SK-N-SH	brain:	n/a	chr8:58944249-58944259
2	TCF12	chr8:58942861-58943916	SK-N-SH	brain:	n/a	chr8:58943388-58943398 chr8:58943283-58943292 chr8:58943387-58943394
3	EP300	chr8:58942676-58944409	SK-N-SH	brain:	n/a	chr8:58944248-58944257 chr8:58944247-58944261
4	TCF12	chr8:58942839-58944225	SK-N-SH	brain:	n/a	chr8:58943388-58943398 chr8:58943283-58943292 chr8:58943387-58943394
5	GATA3	chr8:58942774-58943944	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58943502..58945075-chr8:58945226..58947971,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP7A1-3	chr8:58943893-58944244	ENSG00000253523

Variant related genes	Relation type
FAM110B	TF binding region
ENSG00000253523	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10086632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs10089240	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10091875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504246	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1105302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1108188	0.81[CHB][hapmap]
rs11783171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998684	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs12114333	0.84[EUR][1000 genomes]
rs13249102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13252750	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13279262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34915140	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35124619	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35856042	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4407868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4452790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4524775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4524776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55930039	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56128341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57650783	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58124183	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60265023	0.90[EUR][1000 genomes]
rs6994434	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999606	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009526	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017824	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7826402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841308	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841370	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7842565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297984	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58924400-58946400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:58927000-58948000	Weak transcription	Fetal Brain Male	brain
3	chr8:58929400-58944000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:58929400-58944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:58935000-58948600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:58935000-58950200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
8	chr8:58936200-58944600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:58936400-58945200	Weak transcription	Fetal Kidney	kidney
10	chr8:58941400-58944600	Enhancers	Colon Smooth Muscle	Colon
11	chr8:58941600-58944400	Weak transcription	Lung	lung
12	chr8:58941600-58944400	Weak transcription	Spleen	Spleen
13	chr8:58941800-58946200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:58941800-58946400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:58942200-58944200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:58942200-58944200	Enhancers	Fetal Heart	heart
17	chr8:58942400-58945800	Weak transcription	Fetal Intestine Large	intestine
18	chr8:58942600-58945000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:58942800-58944000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:58942800-58944400	Weak transcription	Fetal Brain Female	brain
21	chr8:58943000-58944200	Enhancers	Fetal Lung	lung
22	chr8:58943000-58944600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:58943200-58944000	Active TSS	Brain Hippocampus Middle	brain
24	chr8:58943200-58944000	Enhancers	Left Ventricle	heart
25	chr8:58943200-58944000	Enhancers	Psoas Muscle	Psoas
26	chr8:58943200-58944000	Enhancers	Right Ventricle	heart
27	chr8:58943200-58944000	Bivalent Enhancer	HUVEC	blood vessel
28	chr8:58943200-58944200	Enhancers	Fetal Stomach	stomach
29	chr8:58943200-58945400	Enhancers	HepG2	liver
30	chr8:58943200-58948200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:58943200-58950400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:58943400-58944000	Active TSS	Brain Anterior Caudate	brain
33	chr8:58943400-58944000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:58943400-58944400	Weak transcription	Fetal Intestine Small	intestine
35	chr8:58943400-58945400	Enhancers	Pancreas	Pancrea
36	chr8:58943600-58944000	Enhancers	Brain Germinal Matrix	brain
37	chr8:58943600-58944000	Flanking Active TSS	Right Atrium	heart
38	chr8:58943600-58944600	Enhancers	Stomach Mucosa	stomach
39	chr8:58943600-58944800	Enhancers	Gastric	stomach
40	chr8:58943600-58945400	Enhancers	Liver	Liver
41	chr8:58943800-58944000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:58943800-58944000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr8:58943800-58944000	Enhancers	Brain Angular Gyrus	brain
44	chr8:58943800-58944000	Enhancers	Brain Cingulate Gyrus	brain
45	chr8:58943800-58944000	Enhancers	Brain Substantia Nigra	brain
46	chr8:58943800-58944000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr8:58943800-58944000	Enhancers	HSMM	muscle
48	chr8:58943800-58944000	Enhancers	HSMMtube	muscle
49	chr8:58943800-58944000	Enhancers	NHLF	lung
50	chr8:58943800-58944200	Enhancers	NHDF-Ad	bronchial

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