Variant report

Variant	rs10086895
Chromosome Location	chr8:125153825-125153826
allele	G/T
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	SPI1	chr8:125153653-125153874	K562	blood:	n/a	chr8:125153789-125153796 chr8:125153787-125153800
2	REST	chr8:125153712-125153927	Hela-S3	cervix:	n/a	n/a
3	MEF2A	chr8:125153455-125153921	GM12878	blood:	n/a	chr8:125153747-125153761
4	EP300	chr8:125153558-125153877	GM12878	blood:	n/a	n/a
5	RUNX3	chr8:125153534-125154108	GM12878	blood:	n/a	n/a
6	EP300	chr8:125153674-125153965	GM12878	blood:	n/a	n/a
7	RAD21	chr8:125153759-125153960	IMR90	lung:	n/a	n/a
8	ATF1	chr8:125153711-125153973	K562	blood:	n/a	n/a
9	SPI1	chr8:125153654-125153861	GM12878	blood:	n/a	chr8:125153789-125153796 chr8:125153787-125153800
10	SPI1	chr8:125153606-125153955	GM12878	blood:	n/a	chr8:125153789-125153796 chr8:125153787-125153800
11	USF1	chr8:125153737-125153976	A549	lung:	n/a	n/a
12	SP1	chr8:125153623-125154004	GM12878	blood:	n/a	chr8:125153956-125153970
13	ATF2	chr8:125153628-125154017	GM12878	blood:	n/a	n/a
14	BCL11A	chr8:125153624-125154025	GM12878	blood:	n/a	n/a
15	JUND	chr8:125153770-125153961	K562	blood:	n/a	n/a
16	NFATC1	chr8:125153510-125153963	GM12878	blood:	n/a	n/a
17	RUNX3	chr8:125153565-125154047	GM12878	blood:	n/a	n/a
18	BATF	chr8:125153614-125154008	GM12878	blood:	n/a	n/a
19	PAX5	chr8:125153731-125154017	GM12878	blood:	n/a	n/a
20	SPI1	chr8:125153558-125153962	HL-60	blood:	n/a	chr8:125153789-125153796 chr8:125153787-125153800
21	IRF4	chr8:125153659-125153909	GM12878	blood:	n/a	n/a
22	PAX5	chr8:125153812-125154045	GM12878	blood:	n/a	n/a
23	BATF	chr8:125153677-125153936	GM12878	blood:	n/a	n/a
24	SPI1	chr8:125153505-125153975	GM12891	blood:	n/a	chr8:125153789-125153796 chr8:125153787-125153800
25	SPI1	chr8:125153615-125153968	HL-60	blood:	n/a	chr8:125153789-125153796 chr8:125153787-125153800
26	CEBPB	chr8:125153678-125153964	IMR90	lung:	n/a	n/a
27	NFIC	chr8:125153575-125154135	GM12878	blood:	n/a	n/a
28	TCF3	chr8:125153765-125154154	GM12878	blood:	n/a	n/a
29	USF2	chr8:125153633-125154011	GM12878	blood:	n/a	n/a
30	FOSL2	chr8:125153595-125154142	MCF-7	breast:	n/a	n/a
31	SPI1	chr8:125153625-125153981	GM12891	blood:	n/a	chr8:125153789-125153796 chr8:125153787-125153800
32	MAX	chr8:125153751-125153951	NB4	blood:	n/a	n/a
33	SPI1	chr8:125153365-125154206	GM12878	blood:	n/a	chr8:125153789-125153796 chr8:125153787-125153800 chr8:125154023-125154036

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125151766..125155460-chr8:125383526..125385815,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250727	TF binding region
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10097532	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10102628	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10103694	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10112410	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956166	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777798	0.81[ASN][1000 genomes]
rs11778782	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11784216	0.81[ASN][1000 genomes]
rs12550345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12550369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13251319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251598	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13252427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13257056	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13258556	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13278430	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13282986	0.81[ASN][1000 genomes]
rs4242354	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4242355	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4242356	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4242357	0.81[ASN][1000 genomes]
rs4242358	0.81[ASN][1000 genomes]
rs4242359	0.81[ASN][1000 genomes]
rs4265167	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4338088	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4363179	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4380915	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4389915	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4413755	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4413756	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4415293	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4431575	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4431576	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4434603	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4437631	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4454257	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455808	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4574828	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4574829	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4581038	0.80[ASN][1000 genomes]
rs4613979	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871463	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871464	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871465	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470223	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470224	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470225	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983946	0.81[ASN][1000 genomes]
rs6986145	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6991000	0.81[ASN][1000 genomes]
rs6998116	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6998145	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6999726	0.81[ASN][1000 genomes]
rs7006141	0.81[ASN][1000 genomes]
rs7010103	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010277	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011521	0.81[ASN][1000 genomes]
rs7014933	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015097	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015444	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017959	0.81[ASN][1000 genomes]
rs7818609	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826680	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7833371	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7840464	0.81[ASN][1000 genomes]
rs9297686	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv948556	chr8:125067187-125204721	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125150400-125165600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:125151200-125154600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125151200-125154800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:125151200-125157800	Weak transcription	Stomach Mucosa	stomach
5	chr8:125151200-125160000	Weak transcription	Fetal Intestine Small	intestine
6	chr8:125151400-125154000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:125151400-125158000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:125151400-125159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:125151600-125154000	Weak transcription	Placenta	Placenta
10	chr8:125151800-125154000	Enhancers	A549	lung
11	chr8:125151800-125157000	Weak transcription	Pancreas	Pancrea
12	chr8:125152400-125154200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:125152400-125154200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:125152600-125154400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:125152600-125154400	Enhancers	NHDF-Ad	bronchial
16	chr8:125152800-125154000	Enhancers	GM12878-XiMat	blood
17	chr8:125152800-125154200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:125152800-125154200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:125152800-125154200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:125152800-125154200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr8:125153000-125154200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:125153200-125154200	Enhancers	NH-A	brain
23	chr8:125153400-125154000	Enhancers	Osteobl	bone
24	chr8:125153400-125154200	Enhancers	HUVEC	blood vessel
25	chr8:125153600-125154000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:125153600-125154000	Enhancers	HSMMtube	muscle
27	chr8:125153800-125154200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:125153800-125154200	Enhancers	Right Atrium	heart
29	chr8:125153800-125154400	Enhancers	Fetal Heart	heart
30	chr8:125153800-125158800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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